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Page 1
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z. Nat Commun. 2024. PMID: 39174524 Free PMC article.
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Clin Genet. 2021 Jul;100(1):51-58. doi: 10.1111/cge.13955. Epub 2021 Mar 18. Clin Genet. 2021. PMID: 33713342
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J; International Parkinson’s Disease Genomics Consortium (IPDGC); Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M. Chen Z, et al. Nat Commun. 2021 Apr 6;12(1):2076. doi: 10.1038/s41467-021-22262-5. Nat Commun. 2021. PMID: 33824317 Free PMC article.
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G, Yu E, Lobo-Prada T, Ruíz-Martínez J, Gorostidi-Pagola A, Gan-Or Z, Carazo-Céspedes K, Trempe JF, Mata IF, Fornaguera-Trías J. Torrealba-Acosta G, et al. Front Neurol. 2021 Aug 4;12:656342. doi: 10.3389/fneur.2021.656342. eCollection 2021. Front Neurol. 2021. PMID: 34421783 Free PMC article.
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
MerTK is a mediator of alpha-synuclein fibril uptake by human microglia.
Dorion MF, Yaqubi M, Senkevich K, Kieran NW, MacDonald A, Chen CXQ, Luo W, Wallis A, Shlaifer I, Hall JA, Dudley RWR, Glass IA; Birth Defects Research Laboratory; Stratton JA, Fon EA, Bartels T, Antel JP, Gan-Or Z, Durcan TM, Healy LM. Dorion MF, et al. Brain. 2024 Feb 1;147(2):427-443. doi: 10.1093/brain/awad298. Brain. 2024. PMID: 37671615 Free PMC article.
260 results