Publications Citing NINDS Repository Samples
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Cites Catalog ID |
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Gandelman M, Paul S, Figueroa KP, Sundrud J, Dansithong W, Scoles DR, Pulst SM, Targeting STAU1 prevents p53 apoptotic signaling in neurodegeneration.
Cell death & disease 16:761 2024
PubMed ID: 41145462 |
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Waldo JJ, Halmai JANM, Singh A, Gonzalez CE, Chen YA, Carthen SA, Nolta JA, Fink KD, Durable.
Molecular therapy Nucleic acids 36:102561 2024
PubMed ID: 40520366 |
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Salomon-Zimri S, Kerem N, Linares GR, Russek-Blum N, Ichida JK, Tracik F, Elucidating the Synergistic Effect of the PrimeC Combination for Amyotrophic Lateral Sclerosis in Human Induced Pluripotent Stem Cell-Derived Motor Neurons and Mouse Models.
Pharmaceuticals (Basel, Switzerland) 18: 2025
PubMed ID: 40283960 View Samples |
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Krzystek TJ, Rathnayake R, Zeng J, Huang J, Iacobucci G, Yu MC, Gunawardena S, Opposing roles for GSK3ß and ERK1-dependent phosphorylation of huntingtin during neuronal dysfunction and cell death in Huntington's disease.
Cell death & disease 16:328 2024
PubMed ID: 40263294 |
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Luteijn MJ, Bhaskar V, Trojer D, Schürz M, Mahboubi H, Handl C, Pizzato N, Pfeifer M, Dafinca R, Voshol H, Giorgetti E, Manneville C, Garnier IPM, Müller M, Zeng F, Buntin K, Markwalder R, Schröder H, Weiler J, Khar D, Schuhmann T, Groot-Kormelink PJ, Keller CG, Farmer P, MacKay A, Beibel M, Roma G, D'Ario G, Merkl C, Schebesta M, Hild M, Elwood F, Vahsen BF, Ripin N, Clery A, Allain F, Labow M, Gabriel D, Chao JA, Talbot K, Nash M, Hunziker J, Meisner-Kober NC, High-throughput screen of 100 000 small molecules in C9ORF72 ALS neurons identifies spliceosome modulators that mobilize G4C2 repeat RNA into nuclear export and repeat associated non-canonical translation.
Nucleic acids research 53: 2025
PubMed ID: 40207633 View Samples |
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Yan S, Zhang W, Li X, Dutta S, Castle AR, Liu Y, Sahoo A, Lam CL, Gatford NJF, Hu MT, Li CZ, Jiang C, Shu B, Tofaris GK, Single extracellular vesicle detection assay identifies membrane-associated a-synuclein as an early-stage biomarker in Parkinson's disease.
Cell reports Medicine 6:101999 2024
PubMed ID: 40056910 |
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Santoso JW, Do SK, Verma R, Do AV, Hendricks E, Ichida JK, McCain ML, Human iPSC-Derived Motor Neuron Innervation Enhances the Differentiation of Muscle Bundles Engineered with Benchtop Fabrication Techniques.
ACS biomaterials science & engineering 11:1731-1740 2025
PubMed ID: 39973396 View Samples |
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Paul S, Dansithong W, Figueroa KP, Gandelman M, Hivare P, Scoles DR, Pulst SM, Staufen2 dysregulation in neurodegenerative disease.
The Journal of biological chemistry 301:108316 2024
PubMed ID: 39955058 |
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Jeon J, Cha Y, Hong YJ, Lee IH, Jang H, Ko S, Naumenko S, Kim M, Ryu HL, Shrestha Z, Lee N, Park TY, Park H, Kim SH, Yoon KJ, Song B, Schweitzer J, Herrington TM, Kong SW, Carter B, Leblanc P, Kim KS, Pre-clinical safety and efficacy of human induced pluripotent stem cell-derived products for autologous cell therapy in Parkinson's disease.
Cell stem cell 32:343-360.e7 2024
PubMed ID: 39952239 |
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Jeon P, Ham HJ, Choi H, Park S, Jang JW, Park SW, Cho DH, Lee HJ, Song HK, Komatsu M, Han D, Jang DJ, Lee JA, NS1 binding protein regulates stress granule dynamics and clearance by inhibiting p62 ubiquitination.
Nature communications 15:10925 2024
PubMed ID: 39738171 |
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Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL, Global Parkinson’s Genetics Program (GP2) DL, Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C, African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Nature structural & molecular biology 31:1955-1963 2024
PubMed ID: 39668204 View Samples |
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Ceron-Codorniu M, Torres P, Fernàndez-Bernal A, Rico-Rios S, Serrano JC, Miralles MP, Beltran M, Garcera A, Soler RM, Pamplona R, Portero-Otín M, TDP-43 dysfunction leads to bioenergetic failure and lipid metabolic rewiring in human cells.
Redox biology 75:103301 2024
PubMed ID: 39116527 |
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Khalil NN, Rexius-Hall ML, Gupta D, McCarthy L, Verma R, Kellogg AC, Takamoto K, Xu M, Nejatpoor T, Parker SJ, McCain ML, Hypoxic-Normoxic Crosstalk Activates Pro-Inflammatory Signaling in Human Cardiac Fibroblasts and Myocytes in a Post-Infarct Myocardium on a Chip.
Advanced healthcare materials :e2401478 2024
PubMed ID: 39001626 View Samples |
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Dao L, You Z, Lu L, Xu T, Sarkar AK, Zhu H, Liu M, Calandrelli R, Yoshida G, Lin P, Miao Y, Mierke S, Kalva S, Zhu H, Gu M, Vadivelu S, Zhong S, Huang LF, Guo Z, Modeling blood-brain barrier formation and cerebral cavernous malformations in human PSC-derived organoids.
Cell stem cell 31:818-833.e11 2023
PubMed ID: 38754427 View Samples |
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Lai JD, Berlind JE, Fricklas G, Lie C, Urenda JP, Lam K, Sta Maria N, Jacobs R, Yu V, Zhao Z, Ichida JK, KCNJ2 inhibition mitigates mechanical injury in a human brain organoid model of traumatic brain injury.
Cell stem cell 31:519-536.e8 2023
PubMed ID: 38579683 View Samples |
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Hegde M, Vasquez V, Kodavati M, Mitra J, Vendula I, Hamilton D, Garruto R, Rao KS, Mitochondria-Targeted Oligomeric a-Synuclein Induces TOM40 Degradation and Mitochondrial Dysfunction in Parkinson's Disease and Parkinsonism-Dementia of Guam.
Research square : 2024
PubMed ID: 38464024 |
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Pena N, Richbourg T, Gonzalez-Hunt CP, Qi R, Wren P, Barlow C, Shanks NF, Carlisle HJ, Sanders LH, G2019S selective LRRK2 kinase inhibitor abrogates mitochondrial DNA damage.
NPJ Parkinson's disease 10:49 2023
PubMed ID: 38429321 View Samples |
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Kim MJ, Kim S, Reinheckel T, Krainc D, Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase.
JCI insight 9: 2023
PubMed ID: 38329128 |
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Park DS, Kozaki T, Tiwari SK, Moreira M, Khalilnezhad A, Torta F, Olivié N, Thiam CH, Liani O, Silvin A, Phoo WW, Gao L, Triebl A, Tham WK, Gonçalves L, Kong WT, Raman S, Zhang XM, Dunsmore G, Dutertre CA, Lee S, Ong JM, Balachander A, Khalilnezhad S, Lum J, Duan K, Lim ZM, Tan L, Low I, Utami KH, Yeo XY, Di Tommaso S, Dupuy JW, Varga B, Karadottir RT, Madathummal MC, Bonne I, Malleret B, Binte ZY, Wei Da N, Tan Y, Wong WJ, Zhang J, Chen J, Sobota RM, Howland SW, Ng LG, Saltel F, Castel D, Grill J, Minard V, Albani S, Chan JKY, Thion MS, Jung SY, Wenk MR, Pouladi MA, Pasqualini C, Angeli V, Cexus ONF, Ginhoux F, iPS-cell-derived microglia promote brain organoid maturation via cholesterol transfer.
Nature 623:397-405 2021
PubMed ID: 37914940 |
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Labrador-Garrido A, Zhong S, Hughes L, Keshiya S, Kim WS, Halliday GM, Dzamko N, Live cell.
Frontiers in cellular neuroscience 17:1229213 2023
PubMed ID: 37908374 |
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Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA, Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Nature genetics 55:1920-1928 2023
PubMed ID: 37872450 View Samples |
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Carido M, Völkner M, Steinheuer LM, Wagner F, Kurth T, Dumler N, Ulusoy S, Wieneke S, Norniella AV, Golfieri C, Khattak S, Schönfelder B, Scamozzi M, Zoschke K, Canzler S, Hackermüller J, Ader M, Karl MO, Reliability of human retina organoid generation from hiPSC-derived neuroepithelial cysts.
Frontiers in cellular neuroscience 17:1166641 2023
PubMed ID: 37868194 |
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Horvath JD, Casas M, Kutchukian C, Sánchez SC, Pergande MR, Cologna SM, Simó S, Dixon RE, Dickson EJ, a-Synuclein-dependent increases in PIP5K1? drive inositol signaling to promote neurotoxicity.
Cell reports 42:113244 2023
PubMed ID: 37838947 |
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Dong X, Bai Y, Liao Z, Gritsch D, Liu X, Wang T, Borges-Monroy R, Ehrlich A, Serrano GE, Feany MB, Beach TG, Scherzer CR, Circular RNAs in the human brain are tailored to neuron identity and neuropsychiatric disease.
Nature communications 14:5327 2022
PubMed ID: 37723137 |
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Badu-Mensah A, Guo X, Mendez R, Parsaud H, Hickman JJ, The Effect of Skeletal Muscle-Specific Creatine Treatment on ALS NMJ Integrity and Function.
International journal of molecular sciences 24: 2023
PubMed ID: 37686322 |
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Guo X, Akanda N, Fiorino G, Nimbalkar S, Long CJ, Colón A, Patel A, Tighe PJ, Hickman JJ, Human IPSC-Derived PreBötC-Like Neurons and Development of an Opiate Overdose and Recovery Model.
Advanced biology :e2300276 2023
PubMed ID: 37675827 |
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Voelkl K, Gutiérrez-Ángel S, Keeling S, Koyuncu S, da Silva Padilha M, Feigenbutz D, Arzberger T, Vilchez D, Klein R, Dudanova I, Neuroprotective effects of hepatoma-derived growth factor in models of Huntington's disease.
Life science alliance 6: 2023
PubMed ID: 37580082 |
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Liaudanskaya V, Fiore NJ, Zhang Y, Milton Y, Kelly MF, Coe M, Barreiro A, Rose VK, Shapiro MR, Mullis AS, Shevzov-Zebrun A, Blurton-Jones M, Whalen MJ, Symes AJ, Georgakoudi I, Nieland TJF, Kaplan DL, Mitochondria dysregulation contributes to secondary neurodegeneration progression post-contusion injury in human 3D in vitro triculture brain tissue model.
Cell death & disease 14:496 2022
PubMed ID: 37537168 |
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Ziff OJ, Harley J, Wang Y, Neeves J, Tyzack G, Ibrahim F, Skehel M, Chakrabarti AM, Kelly G, Patani R, Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition.
Neuron 111:3011-3027.e7 2022
PubMed ID: 37480846 |
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Woo E, Bredvik K, Liu B, Fuchs TJ, Manfredi G, Konrad C, Machine learning approaches based on fibroblast morphometry do not predict ALS.
Neurobiology of aging 130:80-83 2023
PubMed ID: 37473581 |
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Jangir H, Hickman JJ, Mimicking the Tendon Microenvironment to Enhance Skeletal Muscle Adhesion and Longevity in a Functional Microcantilever Platform.
ACS biomaterials science & engineering 9:4698-4708 2024
PubMed ID: 37462389 |
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Fukushi M, Ohsawa R, Okinaka Y, Oikawa D, Kiyono T, Moriwaki M, Irie T, Oda K, Kamei Y, Tokunaga F, Sotomaru Y, Maruyama H, Kawakami H, Sakaguchi T, Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection.
PloS one 18:e0287545 2023
PubMed ID: 37352136 |
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de Rus Jacquet A, Alpaugh M, Denis HL, Tancredi JL, Boutin M, Decaestecker J, Beauparlant C, Herrmann L, Saint-Pierre M, Parent M, Droit A, Breton S, Cicchetti F, The contribution of inflammatory astrocytes to BBB impairments in a brain-chip model of Parkinson's disease.
Nature communications 14:3651 2021
PubMed ID: 37339976 |
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San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC, The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
bioRxiv : the preprint server for biology : 2023
PubMed ID: 37333288 View Samples |
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Sharma SD, Reddy BK, Pal R, Ritakari TE, Cooper JD, Selvaraj BT, Kind PC, Chandran S, Wyllie DJA, Chattarji S, Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons.
Cell reports 42:112344 2023
PubMed ID: 37018073 View Samples |
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Nimbalkar S, Guo X, Colón A, Jackson M, Akanda N, Patel A, Grillo M, Hickman JJ, Development of a functional human induced pluripotent stem cell-derived nociceptor MEA system as a pain model for analgesic drug testing.
Frontiers in cell and developmental biology 11:1011145 2022
PubMed ID: 36936691 |
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Lee S, Jun YW, Linares GR, Butler B, Yuva-Adyemir Y, Moore J, Krishnan G, Ruiz-Juarez B, Santana M, Pons M, Silverman N, Weng Z, Ichida JK, Gao FB, Downregulation of Hsp90 and the antimicrobial peptide Mtk suppresses poly(GR)-induced neurotoxicity in C9ORF72-ALS/FTD.
Neuron 111:1381-1390.e6 2022
PubMed ID: 36931278 View Samples |
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Liu Y, Huang Z, Liu H, Ji Z, Arora A, Cai D, Wang H, Liu M, Simko EAJ, Zhang Y, Periz G, Liu Z, Wang J, DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repeat.
Neuron 111:1205-1221.e9 2022
PubMed ID: 36822200 View Samples |
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San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC, The human inactive X chromosome modulates expression of the active X chromosome.
Cell genomics 3:100259 2022
PubMed ID: 36819663 View Samples |
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Pitcairn C, Murata N, Zalon AJ, Stojkovska I, Mazzulli JR, Impaired Autophagic-Lysosomal Fusion in Parkinson's Patient Midbrain Neurons Occurs through Loss of ykt6 and Is Rescued by Farnesyltransferase Inhibition.
The Journal of neuroscience : the official journal of the Society for Neuroscience 43:2615-2629 2022
PubMed ID: 36788031 View Samples |
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Linares GR, Li Y, Chang WH, Rubin-Sigler J, Mendonca S, Hong S, Eoh Y, Guo W, Huang YH, Chang J, Tu S, Dorjsuren N, Santana M, Hung ST, Yu J, Perez J, Chickering M, Cheng TY, Huang CC, Lee SJ, Deng HJ, Bach KT, Gray K, Subramanyam V, Rosenfeld J, Alworth SV, Goodarzi H, Ichida JK, SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS.
Cell stem cell 30:171-187.e14 2021
PubMed ID: 36736291 View Samples |
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Oh M, Nam J, Baek A, Seo JH, Chae JI, Lee SY, Chung SK, Park BC, Park SG, Kim J, Jeon YJ, Neuroprotective Effects of Licochalcone D in Oxidative-Stress-Induced Primitive Neural Stem Cells from Parkinson's Disease Patient-Derived iPSCs.
Biomedicines 11: 2022
PubMed ID: 36672736 View Samples |
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Gutiérrez-Garcia R, Koyuncu S, Hommen F, Bilican S, Lee HJ, Fatima A, Vilchez D, G3BP1-dependent mechanism suppressing protein aggregation in Huntington's models and its demise upon stress granule assembly.
Human molecular genetics 32:1607-1621 2022
PubMed ID: 36611004 |
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Tufi R, Clark EH, Hoshikawa T, Tsagkaraki C, Stanley J, Takeda K, Staddon JM, Briston T, High-content phenotypic screen to identify small molecule enhancers of Parkin-dependent ubiquitination and mitophagy.
SLAS discovery : advancing life sciences R & D 28:73-87 2022
PubMed ID: 36608804 |
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Leon KE, Khalid MM, Flynn RA, Fontaine KA, Nguyen TT, Kumar GR, Simoneau CR, Tomar S, Jimenez-Morales D, Dunlap M, Kaye J, Shah PS, Finkbeiner S, Krogan NJ, Bertozzi C, Carette JE, Ott M, Nuclear accumulation of host transcripts during Zika Virus Infection.
PLoS pathogens 19:e1011070 2022
PubMed ID: 36603024 |
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Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS, Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.
Nature neuroscience 25:1420-1433 2022
PubMed ID: 36303071 View Samples |
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Sheta R, Teixeira M, Idi W, Pierre M, de Rus Jacquet A, Emond V, Zorca CE, Vanderperre B, Durcan TM, Fon EA, Calon F, Chahine M, Oueslati A, Combining NGN2 programming and dopaminergic patterning for a rapid and efficient generation of hiPSC-derived midbrain neurons.
Scientific reports 12:17176 2022
PubMed ID: 36229560 |
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Paul S, Dansithong W, Gandelman M, Figueroa KP, Zu T, Ranum LPW, Scoles DR, Pulst SM, Staufen Impairs Autophagy in Neurodegeneration.
Annals of neurology 93:398-416 2022
PubMed ID: 36151701 |
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Krzystek TJ, White JA, Rathnayake R, Thurston L, Hoffmar-Glennon H, Li Y, Gunawardena S, HTT (huntingtin) and RAB7 co-migrate retrogradely on a signaling LAMP1-containing late endosome during axonal injury.
Autophagy 19:1199-1220 2022
PubMed ID: 36048753 |
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Chedid J, Labrador-Garrido A, Zhong S, Gao J, Zhao Y, Perera G, Kim WS, Halliday GM, Dzamko N, A small molecule toll-like receptor antagonist rescues a-synuclein fibril pathology.
The Journal of biological chemistry 298:102260 2022
PubMed ID: 35841928 |
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Han SS, Wen KK, García-Rubio ML, Wold MS, Aguilera A, Niedzwiedz W, Vyas YM, WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage.
Nature communications 13:3743 2021
PubMed ID: 35768435 View Samples |
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Czuppa M, Dhingra A, Zhou Q, Schludi C, König L, Scharf E, Farny D, Dalmia A, Täger J, Castillo-Lizardo M, Katona E, Mori K, Aumer T, Schelter F, Müller M, Carell T, Kalliokoski T, Messinger J, Rizzu P, Heutink P, Edbauer D, Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G.
Cell reports 39:110913 2022
PubMed ID: 35675776 |
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Cunha-Oliveira T, Silva DF, Segura L, Baldeiras I, Marques R, Rosenstock T, Oliveira PJ, Silva FSG, Redox profiles of amyotrophic lateral sclerosis lymphoblasts with or without known SOD1 mutations.
European journal of clinical investigation 52:e13798 2022
PubMed ID: 35467758 View Samples |
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Nath S, Caron NS, May L, Gluscencova OB, Kolesar J, Brady L, Kaufman BA, Boulianne GL, Rodriguez AR, Tarnopolsky MA, Truant R, Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.
Human genome variation 9:10 2022
PubMed ID: 35422034 View Samples |
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Eitan C, Siany A, Barkan E, Olender T, van Eijk KR, Moisse M, Farhan SMK, Danino YM, Yanowski E, Marmor-Kollet H, Rivkin N, Yacovzada NS, Hung ST, Cooper-Knock J, Yu CH, Louis C, Masters SL, Kenna KP, van der Spek RAA, Sproviero W, Al Khleifat A, Iacoangeli A, Shatunov A, Jones AR, Elbaz-Alon Y, Cohen Y, Chapnik E, Rothschild D, Weissbrod O, Beck G, Ainbinder E, Ben-Dor S, Werneburg S, Schafer DP, Brown RH, Shaw PJ, Van Damme P, van den Berg LH, Phatnani H, Segal E, Ichida JK, Al-Chalabi A, Veldink JH, Project MinE ALS Sequencing Consortium JH, NYGC ALS Consortium JH, Hornstein E, Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
Nature neuroscience 25:433-445 2020
PubMed ID: 35361972 View Samples |
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van Bree EJ, Guimarães RLFP, Lundberg M, Blujdea ER, Rosenkrantz JL, White FTG, Poppinga J, Ferrer-Raventós P, Schneider AE, Clayton I, Haussler D, Reinders MJT, Holstege H, Ewing AD, Moses C, Jacobs FMJ, A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci.
Genome research 32:656-670 2021
PubMed ID: 35332097 View Samples |
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Dang X, Walton EK, Zablocka B, Baloh RH, Shy ME, Dorn GW, Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.
Cells 11: 2022
PubMed ID: 35326504 View Samples |
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Keller CG, Shin Y, Monteys AM, Renaud N, Beibel M, Teider N, Peters T, Faller T, St-Cyr S, Knehr J, Roma G, Reyes A, Hild M, Lukashev D, Theil D, Dales N, Cha JH, Borowsky B, Dolmetsch R, Davidson BL, Sivasankaran R, An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion.
Nature communications 13:1150 2022
PubMed ID: 35241644 View Samples |
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Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, Briner A, Rodriguez CM, Guo C, Akiyama T, Schmidt HB, Cummings BB, Wyatt DW, Kurylo K, Miller G, Mekhoubad S, Sallee N, Mekonnen G, Ganser L, Rubien JD, Jansen-West K, Cook CN, Pickles S, Oskarsson B, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Shorter J, Myong S, Green EM, Seeley WW, Petrucelli L, Gitler AD, TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
Nature 603:124-130 2021
PubMed ID: 35197626 View Samples |
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Alpaugh M, Masnata M, de Rus Jacquet A, Lepinay E, Denis HL, Saint-Pierre M, Davies P, Planel E, Cicchetti F, Passive immunization against phosphorylated tau improves features of Huntington's disease pathology.
Molecular therapy : the journal of the American Society of Gene Therapy 30:1500-1522 2021
PubMed ID: 35051614 |
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Novak G, Kyriakis D, Grzyb K, Bernini M, Rodius S, Dittmar G, Finkbeiner S, Skupin A, Single-cell transcriptomics of human iPSC differentiation dynamics reveal a core molecular network of Parkinson's disease.
Communications biology 5:49 2020
PubMed ID: 35027645 |
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Hörner SJ, Couturier N, Bruch R, Koch P, Hafner M, Rudolf R, hiPSC-Derived Schwann Cells Influence Myogenic Differentiation in Neuromuscular Cocultures.
Cells 10: 2021
PubMed ID: 34943800 |
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Stojkovska I, Wani WY, Zunke F, Belur NR, Pavlenko EA, Mwenda N, Sharma K, Francelle L, Mazzulli JR, Rescue of a-synuclein aggregation in Parkinson's patient neurons by synergistic enhancement of ER proteostasis and protein trafficking.
Neuron 110:436-451.e11 2022
PubMed ID: 34793693 View Samples |
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Novak G, Finkbeiner S, Skibinski G, Skupin A, Generation of two human induced pluripotent stem cell lines from fibroblasts of unrelated Parkinson's patients carrying the G2019S mutation in the LRRK2 gene (LCSBi005, LCSBi006).
Stem cell research 57:102569 2021
PubMed ID: 34736041 |
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Sonobe Y, Aburas J, Krishnan G, Fleming AC, Ghadge G, Islam P, Warren EC, Gu Y, Kankel MW, Brown AEX, Kiskinis E, Gendron TF, Gao FB, Roos RP, Kratsios P, A C elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation.
Nature communications 12:6025 2020
PubMed ID: 34654821 View Samples |
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Mohamed NV, Sirois J, Ramamurthy J, Mathur M, Lépine P, Deneault E, Maussion G, Nicouleau M, Chen CX, Abdian N, Soubannier V, Cai E, Nami H, Thomas RA, Wen D, Tabatabaei M, Beitel LK, Singh Dolt K, Karamchandani J, Stratton JA, Kunath T, Fon EA, Durcan TM, Midbrain organoids with an.
Brain communications 3:fcab223 2021
PubMed ID: 34632384 |
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Gandelman M, Dansithong W, Kales SC, Paul S, Maag G, Aoyama E, Zakharov A, Rai G, Dexheimer T, Whitehill BM, Sun H, Jadhav A, Simeonov A, Henderson MJ, Huynh DP, Pulst SM, Scoles DR, The AKT modulator A-443654 reduces a-synuclein expression and normalizes ER stress and autophagy.
The Journal of biological chemistry 297:101191 2021
PubMed ID: 34520759 |
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Umek T, Olsson T, Gissberg O, Saher O, Zaghloul EM, Lundin KE, Wengel J, Hanse E, Zetterberg H, Vizlin-Hodzic D, Smith CIE, Zain R, Oligonucleotides Targeting DNA Repeats Downregulate.
Nucleic acid therapeutics 31:443-456 2021
PubMed ID: 34520257 |
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Mazurek S, Oleksiewicz U, Czerwinska P, Wróblewska J, Klimczak M, Wiznerowicz M, Disruption of RING and PHD Domains of TRIM28 Evokes Differentiation in Human iPSCs.
Cells 10: 2021
PubMed ID: 34440702 |
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APL bioengineering 5:036101 2021
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Alzheimer's & dementia : the journal of the Alzheimer's Association 18:318-338 2021
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Molecular brain 14:16 2020
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Cellular and molecular life sciences : CMLS : 2019
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International journal of pharmacy and pharmaceutical research 11:348-374 2019
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Amyotrophic lateral sclerosis & frontotemporal degeneration 20:107-114 2020
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Lidia Tagliafierro Madison Elena Zamora Ornit Chiba-Falek, Multiplication of the SNCA locus exacerbates neuronal nuclear aging.
Human Molecular Genetics : 2018
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Nature communications 9:3648 2017
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Journal of molecular biology 430:3942-3953 2018
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Autophagy 15:113-130 2018
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The Journal of molecular diagnostics : JMD 20:871-882 2018
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Scientific reports 8:11355 2018
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Nature Communications 9:2886 2018
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Nature communications 9:1929 2018
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Nature neuroscience 21:341-352 2017
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Nature medicine : 2017
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Schwab AJ, Sison SL, Meade MR, Broniowska KA, Corbett JA, Ebert AD, Decreased Sirtuin Deacetylase Activity in LRRK2 G2019S iPSC-Derived Dopaminergic Neurons.
Stem cell reports : 2017
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Molecular neurodegeneration 12:76 2017
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Verma M, Callio J, Otero PA, Sekler I, Wills ZP, Chu CT, Mitochondrial Calcium Dysregulation Contributes to Dendrite Degeneration Mediated by PD/LBD-Associated LRRK2 Mutants.
The Journal of neuroscience : the official journal of the Society for Neuroscience 37:11151-11165 2016
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Heman-Ackah SM, Manzano R, Hoozemans JJM, Scheper W, Flynn R, Haerty W, Cowley SA, Bassett AR, Wood MJA, Alpha-synuclein induces the unfolded protein response in Parkinson's disease SNCA triplication iPSC-derived neurons.
Human molecular genetics 26:4441-4450 2017
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Abernathy DG, Kim WK, McCoy MJ, Lake AM, Ouwenga R, Lee SW, Xing X, Li D, Lee HJ, Heuckeroth RO, Dougherty JD, Wang T, Yoo AS, MicroRNAs Induce a Permissive Chromatin Environment that Enables Neuronal Subtype-Specific Reprogramming of Adult Human Fibroblasts.
Cell stem cell 21:332-348.e9 2017
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Szlachcic WJ, Wiatr K, Trzeciak M, Figlerowicz M, Figiel M, The Generation of Mouse and Human Huntington Disease iPS Cells Suitable for In vitro Studies on Huntingtin Function.
Frontiers in molecular neuroscience 10:253 2017
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Ruiz-Martínez J, Azcona LJ, Bergareche A, Martí-Massó JF, Paisán-Ruiz C, Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease.
Neurology Genetics 3:e177 2017
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Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R, Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Genetics in medicine : official journal of the American College of Medical Genetics : 2017
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Takata K, Kozaki T, Lee CZW, Thion MS, Otsuka M, Lim S, Utami KH, Fidan K, Park DS, Malleret B, Chakarov S, See P, Low D, Low G, Garcia-Miralles M, Zeng R, Zhang J, Goh CC, Gul A, Hubert S, Lee B, Chen J, Low I, Shadan NB, Lum J, Wei TS, Mok E, Kawanishi S, Kitamura Y, Larbi A, Poidinger M, Renia L, Ng LG, Wolf Y, Jung S, Önder T, Newell E, Huber T, Ashihara E, Garel S, Pouladi MA, Ginhoux F, Induced-Pluripotent-Stem-Cell-Derived Primitive Macrophages Provide a Platform for Modeling Tissue-Resident Macrophage Differentiation and Function.
Immunity 47:183-198.e6 2017
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Quinti L, Dayalan Naidu S, Träger U, Chen X, Kegel-Gleason K, Llères D, Connolly C, Chopra V, Low C, Moniot S, Sapp E, Tousley AR, Vodicka P, Van Kanegan MJ, Kaltenbach LS, Crawford LA, Fuszard M, Higgins M, Miller JRC, Farmer RE, Potluri V, Samajdar S, Meisel L, Zhang N, Snyder A, Stein R, Hersch SM, Ellerby LM, Weerapana E, Schwarzschild MA, Steegborn C, Leavitt BR, Degterev A, Tabrizi SJ, Lo DC, DiFiglia M, Thompson LM, Dinkova-Kostova AT, Kazantsev AG, KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients.
Proceedings of the National Academy of Sciences of the United States of America 114:E4676-E4685 2017
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Malloy KE, Li J, Choudhury GR, Torres A, Gupta S, Kantorak C, Goble T, Fox PT, Clarke GD, Daadi MM, Magnetic Resonance Imaging-Guided Delivery of Neural Stem Cells into the Basal Ganglia of Nonhuman Primates Reveals a Pulsatile Mode of Cell Dispersion.
Stem cells translational medicine 6:877-885 2016
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Xu X, Tay Y, Sim B, Yoon SI, Huang Y, Ooi J, Utami KH, Ziaei A, Ng B, Radulescu C, Low D, Ng AY, Loh M, Venkatesh B, Ginhoux F, Augustine GJ, Pouladi MA, Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells.
Stem cell reports 8:619-633 2016
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Donlin-Asp PG, Fallini C, Campos J, Chou CC, Merritt ME, Phan HC, Bassell GJ, Rossoll W, The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly.
Cell reports 18:1660-1673 2016
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Noormohammadi A, Khodakarami A, Gutierrez-Garcia R, Lee HJ, Koyuncu S, König T, Schindler C, Saez I, Fatima A, Dieterich C, Vilchez D, Somatic increase of CCT8 mimics proteostasis of human pluripotent stem cells and extends C elegans lifespan.
Nature communications 7:13649 2016
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Dzamko N, Gysbers A, Perera G, Bahar A, Shankar A, Gao J, Fu Y, Halliday GM, Toll-like receptor 2 is increased in neurons in Parkinson's disease brain and may contribute to alpha-synuclein pathology.
Acta neuropathologica 133:303-319 2016
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Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ, Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nature genetics 48:1185-92 2015
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Heman-Ackah SM, Bassett AR, Wood MJ, Precision Modulation of Neurodegenerative Disease-Related Gene Expression in Human iPSC-Derived Neurons.
Scientific reports 6:28420 2016
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Liu ML, Zang T, Zhang CL, Direct Lineage Reprogramming Reveals Disease-Specific Phenotypes of Motor Neurons from Human ALS Patients.
Cell reports 14:115-28 2015
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Schwab AJ, Ebert AD, Neurite Aggregation and Calcium Dysfunction in iPSC-Derived Sensory Neurons with Parkinson's Disease-Related LRRK2 G2019S Mutation.
Stem cell reports 5:1039-52 2015
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Urbanek MO, Krzyzosiak WJ, RNA FISH for detecting expanded repeats in human diseases.
Methods (San Diego, Calif) 98:115-23 2015
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Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, Paris E, Root J, Solomon B, Brewer C, Basra MA, Khan S, Riazuddin S, Braun A, Bonifacino JS, Drayna D, Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
American journal of human genetics 97:715-25 2015
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Raza MH, Domingues CE, Webster R, Sainz E, Paris E, Rahn R, Gutierrez J, Chow HM, Mundorff J, Kang CS, Riaz N, Basra MA, Khan S, Riazuddin S, Moretti-Ferreira D, Braun A, Drayna D, Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.
European journal of human genetics : EJHG 24:529-34 2015
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Szlachcic WJ, Switonski PM, Krzyzosiak WJ, Figlerowicz M, Figiel M, Huntington disease iPSCs show early molecular changes in intracellular signaling, the expression of oxidative stress proteins and the p53 pathway.
Disease models & mechanisms : 2015
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Ooi J, Hayden MR, Pouladi MA, Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease.
Molecular neurobiology 52:1850-1861 2014
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Johnson JO, Glynn SM, Gibbs JR, Nalls MA, Sabatelli M, Restagno G, Drory VE, Chiò A, Rogaeva E, Traynor BJ, Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
Brain : a journal of neurology 137:e311 2014
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Torkamani A, Bersell K, Jorge BS, Bjork RL Jr, Friedman JR, Bloss CS, Cohen J, Gupta S, Naidu S, Vanoye CG, George AL Jr, Kearney JA., De novo KCNB1 mutations in epileptic encephalopathy..
Ann Neurol 76(4):529-540 2014
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Han TU, Park J, Domingues CF, Moretti-Ferreira D, Paris E, Sainz E, Gutierrez J, Drayna D, A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.
Neurobiology of disease 69:23-31 2013
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Chen H, Qian K, Du Z, Cao J, Petersen A, Liu H, Blackbourn LW, Huang CL, Errigo A, Yin Y, Lu J, Ayala M, Zhang SC, Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons.
Cell stem cell 14:796-809 2014
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Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbé C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Van Gerpen JA, Uitti RJ, Springer W, Cruchaga C, Wszolek ZK, Ross OA, Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.
Neurobiology of aging : 2014
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Skibinski G, Nakamura K, Cookson MR, Finkbeiner S, Mutant LRRK2 toxicity in neurons depends on LRRK2 levels and synuclein but not kinase activity or inclusion bodies.
The Journal of neuroscience : the official journal of the Society for Neuroscience 34:418-33 2014
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Kim EJ, Kwon JC, Park KH, Park KW, Lee JH, Choi SH, et al, Clinical and genetic analysis of MAPT,GRN, and C9orf72 genes in Korean patients with rontotemporal dementia.
Neurobiology of Aging 13:00617-9 2013
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Figley MD, Thomas A, Gitler AD, Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis.
Neurobiology of Aging 35(4):936 e1-4. 2014
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Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, et al, Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
Acta Neuropathologica Communications 1(1):68 2013
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Guo X, Disatnik MH, Monbureau M, Shamloo M, Mochly-Rosen D, Qi X, Inhibition of mitochondrial fragmentation iminishes Huntington's disease-associated neurodegeneration.
The Journal of Clinical Investigation 123(12):5371-88 2013
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Allen GF, Toth R, James J, Ganley IG, Loss of iron triggers PINK1/Parkin-independent mitophagy.
EMBO reports 14:1127-35 2013
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Vanoye CG, Gurnett CA, Holland KD, George AL, Jr., Kearney JA, Novel SCN3A variants associated with focal epilepsy in children.
Neurobiology of Disease 62:313-22 2014
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Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H., De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy..
Human Mutation : 2013
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Nuytemans K, Bademci G, Kohli MM, Beecham GW, Wang L, Young JI, Nahab F, Martin ER, Gilbert JR, Benatar M, Haines JL, Scott WK, Züchner S, Pericak-Vance MA, Vance JM., C9ORF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease..
Annals of Human Genetics 77 (5):351-363 2013
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Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisán-Ruiz C, The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures.
Hum Mutat : 2013
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Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A, Goate A, Ravits J, Baloh RH, Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.
Neurobiol Aging 34:2234.e13-9 2013
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Dombroski BA, Galasko DR, Mata IF, Zabetian CP, Craig UK, Garruto RM, Oyanagi K, Schellenberg GD, C9orf72 hexanucleotide repeat expansion and guam amyotrophic lateral sclerosis-parkinsonism-dementia complex.
JAMA Neurol 70:742-5 2013
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Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH, Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis.
Neurobiology of aging 34:1311.e7-9 2013
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Vester A, Velez-Ruiz G, McLaughlin HM, NISC Comparative Sequencing Program HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A, A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Human mutation 34:191-9 2012
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Science translational medicine 4:141ra90 2012
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Abramzon Y, Johnson JO, Scholz SW, Taylor JP, Brunetti M, Calvo A, Mandrioli J, Benatar M, Mora G, Restagno G, Chiò A, Traynor BJ, Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
Neurobiology of aging 33:2231.e1-6 2012
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Lancet neurology 11:323-30 2012
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Ferrari R, Moreno JH, Minhajuddin AT, O'Bryant SE, Reisch JS, Barber RC, Momeni P, Implication of common and disease specific variants in CLU, CR1, and PICALM.
Neurobiology of aging 33:1846.e7-18 2011
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Joyce van de Leemput, PhD,1,2,3
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Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ, A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
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Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML, Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
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Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T, Parkinson Study Group-PROGENI Investigators T, Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
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Bras J, Simón-Sánchez J, Federoff M, Morgadinho A, Januario C, Ribeiro M, Cunha L, Oliveira C, Singleton AB, Lack of replication of association between GIGYF2 variants and Parkinson disease.
Human molecular genetics 18:341-6 2008
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Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R, Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PLoS genetics 4:e1000193 2008
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Human molecular genetics 17:1988-93 2008
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Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB, DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
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Paisán-Ruíz C, Nath P, Washecka N, Gibbs JR, Singleton AB, Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.
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Movement disorders : official journal of the Movement Disorder Society 23:299-302 2007
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Molecular genetics and metabolism 91:195-200 2007
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Human molecular genetics 16:1-14 2006
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Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 7:252-5 2006
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European journal of neurology : the official journal of the European Federation of Neurological Societies 13:1298-301 2006
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Archives of neurology 63:1346-7 2006
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Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J, Genetic variability in CHMP2B and frontotemporal dementia.
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Blood cells, molecules & diseases 37:100-6 2006
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Archives of neurology 63:826-32 2006
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Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M, Genomewide association, Parkinson disease, and PARK10.
American journal of human genetics 78:1084-8; author reply 1092-4 2006
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Clarimon J, Scholz S, Fung HC, Hardy J, Eerola J, Hellstrom O, Chen CM, Wu YR, Tienari PJ, Singleton A, Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease.
American journal of human genetics 78:1082-4; author reply 1092-4 2006
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Pawlikowska L, Poon KY, Achrol AS, McCulloch CE, Ha C, Lum K, Zaroff JG, Ko NU, Johnston SC, Sidney S, Marchuk DA, Lawton MT, Kwok PY, Young WL, Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations.
Neurosurgery 58:838-43; discussion 838-43 2006
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Archives of neurology 63:548-52 2006
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Meschia JF, Kissela BM, Brott TG, Brown RD, Worrall BB, Beck J, Skarp AN, The Siblings With Ischemic Stroke Study (SWISS): a progress report.
Clinical medicine & research 4:12-21 2006
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Woo D, Sekar P, Chakraborty R, Haverbusch MA, Flaherty ML, Kissela BM, Kleindorfer D, Schneider A, Khoury J, Sauerbeck LR, Deka R, Broderick JP, Genetic Epidemiology of Intracerebral Hemorrhage.
J Stroke Cerebrovasc Dis 14:239-243 2005
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Woo D, Kaushal R, Kissela B, Sekar P, Wolujewicz M, Pal P, Alwell K, Haverbusch M, Ewing I, Miller R, Kleindorfer D, Flaherty M, Chakraborty R, Deka R, Broderick J, Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study.
Stroke; a journal of cerebral circulation 37:371-6 2006
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Achrol AS, Pawlikowska L, McCulloch CE, Poon KY, Ha C, Zaroff JG, Johnston SC, Lee C, Lawton MT, Sidney S, Marchuk DA, Kwok PY, Young WL, UCSF BAVM Study Project WL, Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations.
Stroke; a journal of cerebral circulation 37:231-4 2005
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Chen Y, Pawlikowska L, Yao JS, Shen F, Zhai W, Achrol AS, Lawton MT, Kwok PY, Yang GY, Young WL, Interleukin-6 involvement in brain arteriovenous malformations.
Annals of neurology 59:72-80 2006
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Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR, Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.
Neuroscience letters 394:33-6 2006
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Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL, UCSF BAVM Study Project WL, Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.
Stroke; a journal of cerebral circulation 36:2278-80 2005
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Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ, Lrrk2 pathogenic substitutions in Parkinson's disease.
Neurogenetics 6:171-7 2005
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Foroud T, LRRK2: both a cause and a risk factor for Parkinson disease?.
Neurology 65:664-5 2005
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Meschia JF, Brott TG, Brown RD, Crook R, Worrall BB, Kissela B, Brown WM, Rich SS, Case LD, Evans EW, Hague S, Singleton A, Hardy J, SWISS Study Group J, ISGS Study Group J, MSGD Study Group J, Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke.
Annals of neurology 58:351-61 2005
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Movement disorders : official journal of the Movement Disorder Society 21:45-9 2005
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Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A, The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.
Neuroscience letters 389:137-9 2005
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Howard TD, Giles WH, Xu J, Wozniak MA, Malarcher AM, Lange LA, Macko RF, Basehore MJ, Meyers DA, Cole JW, Kittner SJ, Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women.
Stroke; a journal of cerebral circulation 36:1848-51 2005
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Woo D, Kaushal R, Chakraborty R, Woo J, Haverbusch M, Sekar P, Kissela B, Pancioli A, Jauch E, Kleindorfer D, Flaherty M, Schneider A, Khatri P, Sauerbeck L, Khoury J, Deka R, Broderick J, Association of apolipoprotein E4 and haplotypes of the apolipoprotein E gene with lobar intracerebral hemorrhage.
Stroke; a journal of cerebral circulation 36:1874-9 2005
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Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Cleveland DW, Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.
Neurobiology of disease 21:102-9 2006
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Adams JR, van Netten H, Schulzer M, Mak E, Mckenzie J, Strongosky A, Sossi V, Ruth TJ, Lee CS, Farrer M, Gasser T, Uitti RJ, Calne DB, Wszolek ZK, Stoessl AJ, PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation.
Brain : a journal of neurology 128:2777-85 2005
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Cronin S, Furie KL, Kelly PJ, Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis.
Stroke; a journal of cerebral circulation 36:1581-7 2005
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Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, Wood NW, Dürr A, Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 136:72-4 2005
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Broderick JP, Sauerbeck LR, Foroud T, Huston J, Pankratz N, Meissner I, Brown RD, The Familial Intracranial Aneurysm (FIA) study protocol.
BMC medical genetics 6:17 2005
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Dlugos DJ, Scattergood TM, Ferraro TN, Berrettinni WH, Buono RJ, Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy.
Epilepsy & behavior 6:444-6 2005
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Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M, Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
American journal of human genetics 76:672-80 2004
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Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T, Parkinson Study Group-PROGENI investigators T, Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.
Lancet 365:410-2 2005
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Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O, Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.
Neuroscience letters 374:189-91 2005
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Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, Hardy J, Singleton A, Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease.
American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 133:120-3 2005
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Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB, Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.
Archives of neurology 61:1898-904 2004
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Meschia JF, Worrall BB, New advances in identifying genetic anomalies in stroke-prone probands.
Current neurology and neuroscience reports 4:420-6 2004
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Walz R, Castro RM, Landemberger MC, Velasco TR, Terra-Bustamante VC, Bastos AC, Bianchin M, Wichert-Ana L, Araújo D, Alexandre V, Santos AC, Machado HR, Carlotti CG, Brentani RR, Martins VR, Sakamoto AC, Cortical malformations are associated with a rare polymorphism of cellular prion protein.
Neurology 63:557-60 2004
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Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB, SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.
Neurology 63:554-6 2004
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Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS, Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication.
Brain : a journal of neurology 127:768-72 2004
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El-Agnaf OM, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DM, Ikeda S, Cookson MR, Hardy J, Allsop D, Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 17:1945-7 2003
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Meschia JF, Brott TG, Brown RD, Crook RJ, Frankel M, Hardy J, Merino JG, Rich SS, Silliman S, Worrall BB, Ischemic Stroke Genetics Study BB, The Ischemic Stroke Genetics Study (ISGS) Protocol.
BMC neurology 3:4 2003
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Kang UJ, Goldman JG, Alcalay RN, Xie T, Tuite P, Henchcliffe C, Hogarth P, Amara AW, Frank S, Rudolph A, Casaceli C, Andrews H, Gwinn K, Sutherland M, Kopil C, Vincent L, Frasier M, The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort.
Movement disorders : official journal of the Movement Disorder Society 31:924-32 2015
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Mehta SH, Adler CH, Advances in Biomarker Research in Parkinson's Disease.
Current neurology and neuroscience reports 16:7 2015
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Rosenthal LS, Drake D, Alcalay RN, Babcock D, Bowman FD, Chen-Plotkin A, Dawson TM, Dewey RB, German DC, Huang X, Landin B, McAuliffe M, Petyuk VA, Scherzer CR, Hillaire-Clarke CS, Sieber BA, Sutherland M, Tarn C, West A, Vaillancourt D, Zhang J, Gwinn K, PDBP consortium K, The NINDS Parkinson's disease biomarkers program.
Movement disorders : official journal of the Movement Disorder Society 31:915-23 2015
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Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, Keller MF, Molony C, Gibbs JR, Chen-Plotkin A, Suh E, Letson C, Fiandaca MS, Mapstone M, Federoff HJ, Noyce AJ, Morris H, Van Deerlin VM, Weintraub D, Zabetian C, Hernandez DG, Lesage S, Mullins M, Conley ED, Northover CA, Frasier M, Marek K, Day-Williams AG, Stone DJ, Ioannidis JP, Singleton AB, Parkinson's Disease Biomarkers Program and Parkinson's Progression Marker Initiative investigators AB, Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study.
The Lancet Neurology 14:1002-9 2015
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Ofori E, Du G, Babcock D, Huang X, Vaillancourt DE, Parkinson's disease biomarkers program brain imaging repository.
NeuroImage 124:1120-4 2015
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American journal of human genetics 95:360-70 2014
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Yang KH, Won Y, Lim JR, Kang DH, Assessment of Bosworth-type fracture by external oblique radiographs.
The American journal of emergency medicine : 2014
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van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R, Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.
Molecular neurodegeneration 9:38 2014
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Kearney JA, Epi4K Phase I: Gene Discovery in Epileptic Encephalopathies by Exome Sequencing.
Epilepsy currents / American Epilepsy Society 14:208-10 2014
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Hottman DA, Chernick D, Cheng S, Wang Z, Li L, HDL and cognition in neurodegenerative disorders.
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Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R, International Parkinson's Disease Genomics Consortium (IPDGC) R, Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) R, 23andMe R, GenePD R, NeuroGenetics Research Consortium (NGRC) R, Hussman Institute of Human Genomics (HIHG) R, Ashkenazi Jewish Dataset Investigator R, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE) R, North American Brain Expression Consortium (NABEC) R, United Kingdom Brain Expression Consortium (UKBEC) R, Greek Parkinson's Disease Consortium R, Alzheimer Genetic Analysis Group R, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB, Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nature genetics 46:989-93 2013
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Gusareva ES, Carrasquillo MM, Bellenguez C, Cuyvers E, Colon S, Graff-Radford NR, Petersen RC, Dickson DW, Mahachie John JM, Bessonov K, Van Broeckhoven C, the GERAD1 Consortium C, Harold D, Williams J, Amouyel P, Sleegers K, Ertekin-Taner N, Lambert JC, Van Steen K, Genome-wide association interaction analysis for Alzheimer's disease.
Neurobiology of aging : 2013
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van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R, Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
Neurobiology of aging 35:2421.e13-7 2014
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Cotlarciuc I, Malik R, Holliday EG, Ahmadi KR, Paré G, Psaty BM, Fornage M, Hasan N, Rinne PE, Ikram MA, Markus HS, Rosand J, Mitchell BD, Kittner SJ, Meschia JF, van Meurs JB, Uitterlinden AG, Worrall BB, Dichgans M, Sharma P, METASTROKE and the International Stroke Genetics Consortium P, Effect of genetic variants associated with plasma homocysteine levels on stroke risk.
Stroke; a journal of cerebral circulation 45:1920-4 2014
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Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, ITALSGEN JD, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ, Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
Nature neuroscience 17:664-6 2013
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functional follow-up implicates endothelial STXBP5 and STX2..
Arteriosclerosis, Thrombosis, and Vascular Biology 34:1093-101 2014
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Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB, TREM2 Variant pR47H as a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis.
JAMA neurology 71:449-53 2014
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Yager JR, Gasparovic C, Magnotta VA, Adams W, Fiedorowicz J, Paulsen J, Jorge R, Beglinger LJ, Preliminary study of the association of white-matter metabolite concentrations with disease severity in patients with Huntington's disease.
The Journal of neuropsychiatry and clinical neurosciences 26:101-4 2014
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Hill-Burns EM, Wissemann WT, Hamza TH, Factor SA, Zabetian CP, Payami H, Identification of a novel Parkinson's disease locus via stratified genome-wide association study.
BMC genomics 15:118 2013
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Nature genetics 56:1371-1376 2023
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Neuron 112:2142-2156.e5 2023
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The Journal of cell biology 223: 2023
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Ortega JA, Sasselli IR, Boccitto M, Fleming AC, Fortuna TR, Li Y, Sato K, Clemons TD, Mckenna ED, Nguyen TP, Anderson EN, Asin J, Ichida JK, Pandey UB, Wolin SL, Stupp SI, Kiskinis E, CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against.
Science advances 9:eadf7997 2023
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Zhang Q, Bhatia M, Park T, Ott J, A multi-threaded approach to genotype pattern mining for detecting digenic disease genes.
Frontiers in genetics 14:1222517 2023
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Science translational medicine 15:eabo1557 2023
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The Lancet Neurology 22:1015-1025 2023
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Biochimica et biophysica acta Molecular basis of disease 1869:166787 2023
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Nature communications 14:2150 2021
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Whitham D, Belenkiy E, Darie CC, Radu A, Proteomics Analysis of Lymphoblastoid Cell Lines from Patients with Amyotrophic Lateral Sclerosis.
Molecules (Basel, Switzerland) 28: 2022
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Becerra-Calixto A, Mukherjee A, Ramirez S, Sepulveda S, Sinha T, Al-Lahham R, De Gregorio N, Gherardelli C, Soto C, Lewy Body-like Pathology and Loss of Dopaminergic Neurons in Midbrain Organoids Derived from Familial Parkinson's Disease Patient.
Cells 12: 2022
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Frontiers in cellular neuroscience 17:1003188 2022
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Cell 186:786-802.e28 2021
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NPJ Parkinson's disease 9:20 2022
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Jeyakumar JM, Kia A, Tam LCS, McIntosh J, Spiewak J, Mills K, Heywood W, Chisari E, Castaldo N, Verhoef D, Hosseini P, Kalcheva P, Cocita C, Miranda CJ, Canavese M, Khinder J, Rosales C, Hughes D, Sheridan R, Corbau R, Nathwani A, Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease.
Gene therapy 30:487-502 2022
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Warden AS, Han C, Hansen E, Trescott S, Nguyen C, Kim R, Schafer D, Johnson A, Wright M, Ramirez G, Lopez-Sanchez M, Coufal NG, Tools for studying human microglia: In vitro and in vivo strategies.
Brain, behavior, and immunity 107:369-382 2022
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Fang L, Monteys AM, Dürr A, Keiser M, Cheng C, Harapanahalli A, Gonzalez-Alegre P, Davidson BL, Wang K, Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing.
HGG advances 4:100146 2022
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Li QS, Shabalin AA, DiBlasi E, Gopal S, Canuso CM, FinnGen, International Suicide Genetics Consortium CM, Palotie A, Drevets WC, Docherty AR, Coon H, Genome-wide association study meta-analysis of suicide death and suicidal behavior.
Molecular psychiatry 28:891-900 2022
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Cho IK, Easley CA, Chan AWS, Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease.
Journal of assisted reproduction and genetics 39:2413-2430 2022
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Uhrig M, Ezquer F, Ezquer M, Improving Cell Recovery: Freezing and Thawing Optimization of Induced Pluripotent Stem Cells.
Cells 11: 2021
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Knock E, Julian LM, Building on a Solid Foundation: Adding Relevance and Reproducibility to Neurological Modeling Using Human Pluripotent Stem Cells.
Frontiers in cellular neuroscience 15:767457 2021
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Jarazo J, Barmpa K, Modamio J, Saraiva C, Sabaté-Soler S, Rosety I, Griesbeck A, Skwirblies F, Zaffaroni G, Smits LM, Su J, Arias-Fuenzalida J, Walter J, Gomez-Giro G, Monzel AS, Qing X, Vitali A, Cruciani G, Boussaad I, Brunelli F, Jäger C, Rakovic A, Li W, Yuan L, Berger E, Arena G, Bolognin S, Schmidt R, Schröder C, Antony PMA, Klein C, Krüger R, Seibler P, Schwamborn JC, Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-ß-Cyclodextrin Treatment.
Movement disorders : official journal of the Movement Disorder Society 37:80-94 2021
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Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, Mole SE, De Matteis MA, Ballabio A, Sampaio JL, McKay T, Johannes L, Bolaños JP, Medina DL, Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
EMBO molecular medicine 13:e13742 2021
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Cells 10: 2021
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Kilic-Berkmen G, Wright LJ, Perlmutter JS, Comella C, Hallett M, Teller J, Pirio Richardson S, Peterson DA, Cruchaga C, Lungu C, Jinnah HA, The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies.
Frontiers in neurology 12:660909 2021
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Frontiers in aging neuroscience 13:658226 2021
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Genes 12: 2021
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Bakeberg MC, Hoes ME, Gorecki AM, Theunissen F, Pfaff AL, Kenna JE, Plunkett K, Kõks S, Akkari PA, Mastaglia FL, Anderton RS, The TOMM40 '523' polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease.
Scientific reports 11:6363 2020
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Assali A, Cho JY, Tsvetkov E, Gupta AR, Cowan CW, Sex-dependent role for EPHB2 in brain development and autism-associated behavior.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 46:2021-2029 2020
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Cell metabolism 33:531-546.e9 2019
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Science advances 7: 2020
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Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E, Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Molecular genetics and metabolism 132:27-37 2020
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American journal of human genetics 107:445-460 2020
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Lansdell TA, Fisher C, Simmonds K, Reeves MJ, Woo D, Dorrance AM, Demel SL, Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm.
Neurogenetics 20:83-89 2018
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Sabir MS, Blauwendraat C, Ahmed S, Serrano GE, Beach TG, Perkins M, Rice AC, Masliah E, Morris CM, Pihlstrom L, Pantelyat A, Resnick SM, Cookson MR, Hernandez DG, Albert M, Dawson TM, Rosenthal LS, Houlden H, Pletnikova O, Troncoso J, Scholz SW, Assessment of APOE in atypical parkinsonism syndromes.
Neurobiology of disease 127:142-146 2018
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Linville RM, DeStefano JG, Sklar MB, Xu Z, Farrell AM, Bogorad MI, Chu C, Walczak P, Cheng L, Mahairaki V, Whartenby KA, Calabresi PA, Searson PC, Human iPSC-derived blood-brain barrier microvessels: validation of barrier function and endothelial cell behavior.
Biomaterials 190-191:24-37 2018
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Neuron 97:1268-1283.e6 2017
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Mandel M, de Uña-Álvarez J, Simon DK, Betensky RA, Inverse probability weighted Cox regression for doubly truncated data.
Biometrics : 2016
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Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R, TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
Neuron 95:808-816.e9 2017
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García-Sanz P, Orgaz L, Bueno-Gil G, Espadas I, Rodríguez-Traver E, Kulisevsky J, Gutierrez A, Dávila JC, González-Polo RA, Fuentes JM, Mir P, Vicario C, Moratalla R, N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society : 2017
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Larsson SC, Scott RA, Traylor M, Langenberg CC, Hindy G, Melander O, Orho-Melander M, Seshadri S, Wareham NJ, Markus HS, METASTROKE Collaboration and NINDS Stroke Genetics Network (SiGN) HS, Type 2 diabetes, glucose, insulin, BMI, and ischemic stroke subtypes: Mendelian randomization study.
Neurology 89:454-460 2016
PubMed ID: 28667182 |
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Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, Stessman HAF, Nuttle X, Hoekzema K, Lindsay-Graves TA, Wilson RK, Eichler EE, The evolution and population diversity of human-specific segmental duplications.
Nature ecology & evolution 1:69 2017
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Epi4K Consortium , EuroEPINOMICS-RES Consortium , Epilepsy Phenome Genome Project, Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.
European journal of human genetics : EJHG 25:894-899 2016
PubMed ID: 28513609 |
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Ash PEA, Stanford EA, Al Abdulatif A, Ramirez-Cardenas A, Ballance HI, Boudeau S, Jeh A, Murithi JM, Tripodis Y, Murphy GJ, Sherr DH, Wolozin B, Dioxins and related environmental contaminants increase TDP-43 levels.
Molecular neurodegeneration 12:35 2016
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Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH, Silani V, Landers JE, Shaw CE, Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Science translational medicine 9: 2015
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Celestino-Soper PB, Gao H, Lynnes TC, Lin H, Liu Y, Spoonamore KG, Chen PS, Vatta M, Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.
Frontiers in cardiovascular medicine 4:11 2016
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Ludtmann MHR, Arber C, Bartolome F, de Vicente M, Preza E, Carro E, Houlden H, Gandhi S, Wray S, Abramov AY, Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons.
The Journal of biological chemistry 292:8907-8917 2016
PubMed ID: 28360103 |
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Lacaze P, Ryan J, Woods R, Winship I, McNeil J, Pathogenic variants in the healthy elderly: unique ethical and practical challenges.
Journal of medical ethics 43:714-722 2016
PubMed ID: 28341755 |
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Epi4K consortium , Epilepsy Phenome/Genome Project, Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
The Lancet Neurology 16:135-143 2016
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Morgan AR, Touchard S, O'Hagan C, Sims R, Majounie E, Escott-Price V, Jones L, Williams J, Morgan BP, The Correlation between Inflammatory Biomarkers and Polygenic Risk Score in Alzheimer's Disease.
Journal of Alzheimer's disease : JAD 56:25-36 2016
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Zhang M, Mu H, Shang Z, Kang K, Lv H, Duan L, Li J, Chen X, Teng Y, Jiang Y, Zhang R, Genome-wide pathway-based association analysis identifies risk pathways associated with Parkinson's disease.
Neuroscience 340:398-410 2016
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Rué L, Bañez-Coronel M, Creus-Muncunill J, Giralt A, Alcalá-Vida R, Mentxaka G, Kagerbauer B, Zomeño-Abellán MT, Aranda Z, Venturi V, Pérez-Navarro E, Estivill X, Martí E, Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels.
The Journal of clinical investigation 126:4319-4330 2015
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Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, Jiang S, Ma X, Jiang Z, da Rocha EL, Sheng M, Choi H, Lerou PH, Li H, Wang X, The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity.
Nature medicine 22:869-78 2015
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Kay C, Collins JA, Miedzybrodzka Z, Madore SJ, Gordon ES, Gerry N, Davidson M, Slama RA, Hayden MR, Huntington disease reduced penetrance alleles occur at high frequency in the general population.
Neurology 87:282-8 2015
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Momcilovic O, Sivapatham R, Oron TR, Meyer M, Mooney S, Rao MS, Zeng X, Derivation, Characterization, and Neural Differentiation of Integration-Free Induced Pluripotent Stem Cell Lines from Parkinson's Disease Patients Carrying SNCA, LRRK2, PARK2, and GBA Mutations.
PloS one 11:e0154890 2015
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Paquet D, Kwart D, Chen A, Sproul A, Jacob S, Teo S, Olsen KM, Gregg A, Noggle S, Tessier-Lavigne M, Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9.
Nature 533:125-9 2015
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Zhou Q, Yen A, Rymarczyk G, Asai H, Trengrove C, Aziz N, Kirber MT, Mostoslavsky G, Ikezu T, Wolozin B, Bolotina VM, Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's disease.
Nature communications 7:10332 2015
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Traylor M, Zhang CR, Adib-Samii P, Devan WJ, Parsons OE, Lanfranconi S, Gregory S, Cloonan L, Falcone GJ, Radmanesh F, Fitzpatrick K, Kanakis A, Barrick TR, Moynihan B, Lewis CM, Boncoraglio GB, Lemmens R, Thijs V, Sudlow C, Wardlaw J, Rothwell PM, Meschia JF, Worrall BB, Levi C, Bevan S, Furie KL, Dichgans M, Rosand J, Markus HS, Rost N, International Stroke Genetics Consortium N, Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.
Neurology 86:146-53 2015
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Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K, van der Flier W, Holstege H, Louwersheimer E, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns NJ, Halliday GM, Mann D, Pickering-Brown S, Powell J, Lunnon K, Lupton MK, International Parkinson's Disease Genomics Consortium MK, Dickson D, Hardy J, Singleton A, Bras J, Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.
Neurobiology of aging 38:214.e7-10 2015
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Celestino-Soper PB, Doytchinova A, Steiner HA, Uradu A, Lynnes TC, Groh WJ, Miller JM, Lin H, Gao H, Wang Z, Liu Y, Chen PS, Vatta M, Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
PloS one 10:e0143588 2015
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Federoff M, Price TR, Sailer A, Scholz S, Hernandez D, Nicolas A, Singleton AB, Nalls M, Houlden H., Genome-wide estimate of the heritability of Multiple System Atrophy.
Parkinsonism Related Disorders Jan 22:35-41 2015
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Smith GA, Jansson J, Rocha EM, Osborn T, Hallett PJ, Isacson O, Fibroblast Biomarkers of Sporadic Parkinson's Disease and LRRK2 Kinase Inhibition.
Molecular neurobiology 53:5161-77 2015
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Richner M, Victor MB, Liu Y, Abernathy D, Yoo AS, MicroRNA-based conversion of human fibroblasts into striatal medium spiny neurons.
Nature protocols 10:1543-55 2015
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Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR, The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Genetics in medicine : official journal of the American College of Medical Genetics 18:443-51 2015
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Kun-Rodrigues C, Ganos C, Guerreiro R, Schneider SA, Schulte C, Lesage S, Darwent L, Holmans P, Singleton A, International Parkinson's Disease Genomics Consortium (IPDGC) A, Bhatia K, Bras J, A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Human molecular genetics 24:6711-20 2015
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Iovino M, Agathou S, González-Rueda A, Del Castillo Velasco-Herrera M, Borroni B, Alberici A, Lynch T, O'Dowd S, Geti I, Gaffney D, Vallier L, Paulsen O, Káradóttir RT, Spillantini MG, Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
Brain : a journal of neurology 138:3345-59 2015
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McGovern K, Karn CF, Fox K, EPGP Investigators K, Surpassing the Target: How a Recruitment Campaign Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project.
Clinical and translational science 8:518-25 2015
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Gray NE, Quinn JF, Alterations in mitochondrial number and function in Alzheimer's disease fibroblasts.
Metabolic brain disease : 2015
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Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK, Harold D, Williams J, Owen MJ, O'Donovan MC, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Schellenberg GD, Heutink P, Singleton AB, Brice A, Wood NW, Hardy J, Martinez M, Choi SH, DeStefano A, Ikram MA, Bis JC, Smith A, Fitzpatrick AL, Launer L, van Duijn C, Seshadri S, Ulstein ID, Aarsland D, Fladby T, Djurovic S, Hyman BT, Snaedal J, Stefansson H, Stefansson K, Gasser T, Andreassen OA, Dale AM, ADNI, ADGC, GERAD, CHARGE and IPDGC Investigators AM, Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus.
Molecular psychiatry 20:1588-95 2014
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Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR, Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.
Molecular psychiatry 20:1350-65 2014
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Brandstaetter H, Kruppa AJ, Buss F, Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane.
Disease models & mechanisms 7:1335-40 2014
PubMed ID: 25368120 View Samples |
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Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH, van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chiò A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH, C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis.
Annals of neurology 76:120-33 2013
PubMed ID: 24931836 |
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Williams SR, Yang Q, Chen F, Liu X, Keene KL, Jacques P, Chen WM, Weinstein G, Hsu FC, Beiser A, Wang L, Bookman E, Doheny KF, Wolf PA, Zilka M, Selhub J, Nelson S, Gogarten SM, Worrall BB, Seshadri S, Sale MM, Genomics and Randomized Trials Network MM, Framingham Heart Study MM, Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
PLoS genetics 10:e1004214 2014
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Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL 3rd, Caselli R, Mackenzie IR, Miller BL, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Younkin SG, Petersen RC, Ertekin-Taner N, Uitti RJ, Meschia JF, Boylan KB, Boeve BF, Graff-Radford NR, Wszolek ZK, Dickson DW, Rademakers R, Ross OA, TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's
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Mol Neurodegener 8:19 2013
PubMed ID: 23800361 |
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Foroud T; FIA Study Investigators, Whole exome sequencing of intracranial aneurysm.
Stroke 44(6 Suppl 1):S26-8 2013
PubMed ID: 23709719 |
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Turner MR, Bowser R, Bruijn L, Dupuis L, Ludolph A, McGrath M, Manfredi G, Maragakis N, Miller RG, Pullman SL, Rutkove SB, Shaw PJ, Shefner J, Fischbeck KH, Mechanisms, models and biomarkers in amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener 14 Suppl 1:19-32 2013
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Adib-Samii P, Rost N, Traylor M, Devan W, Biffi A, Lanfranconi S, Fitzpatrick K, Bevan S, Kanakis A, Valant V, Gschwendtner A, Malik R, Richie A, Gamble D, Segal H, Parati EA, Ciusani E, Holliday EG, Maguire J, Wardlaw J, Worrall B, Bis J, Wiggins KL, Longstreth W, Kittner SJ, Cheng YC, Mosley T, Falcone GJ, Furie KL, Leiva-Salinas C, Lau BC, Saleem Khan M; Australian Stroke Genetics Collaborative; Wellcome Trust Case-Control Consortium-2 (WTCCC2); METASTROKE, Sharma P, Fornage M, Mitchell BD, Psaty BM, Sudlow C, Levi C, Boncoraglio GB, Rothwell PM, Meschia J, Dichgans M, Rosand J, Markus HS; International Stroke Genetics Consortium, 17q25 locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status.
Stroke 44:1609-15 2013
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Khan TA, Shah T, Prieto D, Zhang W, Price J, Fowkes GR, Cooper J, Talmud PJ, Humphries SE, Sundstrom J, Hubacek JA, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Abdollahi MR, Slooter AJ, Szolnoki Z, Sandhu M, Wareham N, Frikke-Schmidt R, Tybjærg-Hansen A, Fillenbaum G, Heijmans BT, Katsuya T, Gromadzka G, Singleton A, Ferrucci L, Hardy J, Worrall B, Rich SS, Matarin M, Whittaker J, Gaunt TR, Whincup P, Morris R, Deanfield J, Donald A,
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Int J Epidemiol 42:475-92 2013
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Siitonen A, Majounie E, Federoff M, Ding J, Majamaa K, Singleton AB, Mutations in EIF4G1 are not a common cause of Parkinson's disease.
Eur J Neurol 20:e59 2013
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