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Year Number of Results
2017 2
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2019 2
2020 2
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2023 7
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28 results

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Page 1
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.
van Vugt JJFA, Zwamborn RAJ, Dolzhenko E, Eberle MA, Weisburd B, Bekema E, Kooyman M, Wang BN; Project MinE ALS Sequencing Consortium; Kamsteeg EJ, Losekoot M, Baas F, Novy C, Høyer H, van Eijk RPA, van Es MA, van Rheenen W, Al-Chalabi A, van den Berg LH, Veldink JH. van Vugt JJFA, et al. Brain Commun. 2025 Dec 9;7(6):fcaf482. doi: 10.1093/braincomms/fcaf482. eCollection 2025. Brain Commun. 2025. PMID: 41426430 Free PMC article.
SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.
Wang Y, van Dijk C, Timpanaro I, Hop P, Kenna B, Kooyman M, Aronica E, Pasterkamp RJ, van den Berg LH, Cooper-Knock J; Project MinE ALS Sequencing Consortium; NYGC ALS Consortium; Veldink JH, Kenna K. Wang Y, et al. Cell Rep Methods. 2025 Oct 20;5(10):101176. doi: 10.1016/j.crmeth.2025.101176. Epub 2025 Sep 17. Cell Rep Methods. 2025. PMID: 40967210 Free PMC article.
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.
Iacoangeli A, Dilliott AA, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, deCarvalho M, Drory VE, Glass JD, Gotkine M, Lerner YM, Hardiman O, Landers JE, McLaughlin RL, Pardina JSM, Morrison K, Pinto S, Povedano M, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson R, Rouleau GA, Al-Chalabi A, Farhan SMK. Iacoangeli A, et al. J Neurol Neurosurg Psychiatry. 2025 Sep 12;96(10):928-936. doi: 10.1136/jnnp-2024-335364. J Neurol Neurosurg Psychiatry. 2025. PMID: 39947885 Free PMC article.
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD, Land… See abstract for full author list ➔ Saez-Atienzar S, et al. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free PMC article.
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313615 Free PMC article.
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease.
Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Shankaracharya, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI; Project MinE ALS Sequencing Consortium; Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE. Hop PJ, et al. Nat Genet. 2024 Jul;56(7):1371-1376. doi: 10.1038/s41588-024-01787-7. Epub 2024 Jun 10. Nat Genet. 2024. PMID: 38858457 Free PMC article.
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Marriott H, et al. Ann Clin Transl Neurol. 2024 Jul;11(7):1775-1786. doi: 10.1002/acn3.52083. Epub 2024 May 22. Ann Clin Transl Neurol. 2024. PMID: 38775181 Free PMC article.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Harvey C, Weinreich M, Lee JAK, Shaw AC, Ferraiuolo L, Mortiboys H, Zhang S, Hop PJ, Zwamborn RAJ, van Eijk K, Julian TH, Moll T, Iacoangeli A, Al Khleifat A, Quinn JP, Pfaff AL, Kõks S, Poulton J, Battle SL, Arking DE, Snyder MP; Project MinE ALS Sequencing Consortium; Veldink JH, Kenna KP, Shaw PJ, Cooper-Knock J. Harvey C, et al. Heliyon. 2024 Jan 24;10(3):e24975. doi: 10.1016/j.heliyon.2024.e24975. eCollection 2024 Feb 15. Heliyon. 2024. PMID: 38317984 Free PMC article.
Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data.
Marriott H, Kabiljo R, Hunt GP, Khleifat AA, Jones A, Troakes C; Project MinE ALS Sequencing Consortium; TargetALS Sequencing Consortium; Pfaff AL, Quinn JP, Koks S, Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Marriott H, et al. Acta Neuropathol Commun. 2023 Dec 21;11(1):208. doi: 10.1186/s40478-023-01686-8. Acta Neuropathol Commun. 2023. PMID: 38129934 Free PMC article.
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH; Project Mine Als Sequencing Consortium; Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, Dupuis L. Megat S, et al. Nat Commun. 2023 Dec 4;14(1):8026. doi: 10.1038/s41467-023-43710-4. Nat Commun. 2023. PMID: 38049418 Free PMC article. No abstract available.
28 results