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Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH, Moisse M, van Vugt JJFA, Zwamborn RAJ, van der Spek R, van Rheenen W, Van Eijk K, Kenna K, Corcia P, Vourc'h P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Ratti A, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, van Es MA, van den Berg LH, Al-Chalabi A, Veldink J, Van Damme P. Van Daele SH, et al. Brain. 2023 Sep 1;146(9):3760-3769. doi: 10.1093/brain/awad120. Brain. 2023. PMID: 37043475 Free PMC article.
In addition, we determined the length of repeat expansions in C9orf72, ATXN1, ATXN2 and NIPA1 using the ExpansionHunter tool. We found C9orf72 repeat expansions in 5.21% of sALS patients. ...Significantly more cases carried at least one pathogenic or likely pathogenic vari …
In addition, we determined the length of repeat expansions in C9orf72, ATXN1, ATXN2 and NIPA1 using the ExpansionHunter tool. We foun …
ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes.
Vieira de Sá R, Sudria-Lopez E, Cañizares Luna M, Harschnitz O, van den Heuvel DMA, Kling S, Vonk D, Westeneng HJ, Karst H, Bloemenkamp L, Varderidou-Minasian S, Schlegel DK, Mars M, Broekhoven MH, van Kronenburg NCH, Adolfs Y, Vangoor VR, de Jongh R, Ljubikj T, Peeters L, Seeler S, Mocholi E, Basak O, Gordon D, Giuliani F, Verhoeff T, Korsten G, Calafat Pla T, Venø MT, Kjems J, Talbot K, van Es MA, Veldink JH, van den Berg LH, Zelina P, Pasterkamp RJ. Vieira de Sá R, et al. Nat Commun. 2024 Aug 29;15(1):7484. doi: 10.1038/s41467-024-51676-0. Nat Commun. 2024. PMID: 39209824 Free PMC article.
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). ...Together, these results define pathogenic defects underlying ATXN2-ALS and provide a framework for future resear …
Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral …
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.
Manini A, Gagliardi D, Meneri M, Antognozzi S, Del Bo R, Comi GP, Corti S, Ronchi D. Manini A, et al. Sci Rep. 2023 Feb 23;13(1):3187. doi: 10.1038/s41598-023-30393-6. Sci Rep. 2023. PMID: 36823368 Free PMC article.
Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indeed, an abnormal number of GGC repeats in NOTCH2NLC has been recently reported in 0.7% of sporadic ALS patients from mainland China. ...
Repeat expansions in genes other than C9orf72 and ATXN2 have been recently associated with Amyotrophic Lateral Sclerosis (ALS). Indee …
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
METHODS: We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci associated with neurological outcomes (AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, C9orf72, CACNA1A, DMPK, FMR1, FXN, HTT, and TBP) using sampl …
METHODS: We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci asso …
Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.
Petrauskas A, Fortunati DL, Kandi AR, Pothapragada SS, Agrawal K, Singh A, Huelsmeier J, Hillebrand J, Brown G, Chaturvedi D, Lee J, Lim C, Auburger G, VijayRaghavan K, Ramaswami M, Bakthavachalu B. Petrauskas A, et al. PLoS Genet. 2024 May 20;20(5):e1011251. doi: 10.1371/journal.pgen.1011251. eCollection 2024 May. PLoS Genet. 2024. PMID: 38768217 Free PMC article.
Ataxin-2 (ATXN2) is a gene implicated in spinocerebellar ataxia type II (SCA2), amyotrophic lateral sclerosis (ALS) and Parkinsonism. ...Here we advance these findings through a series of experiments on Drosophila and human Ataxin-2 proteins. Re
Ataxin-2 (ATXN2) is a gene implicated in spinocerebellar ataxia type II (SCA2), amyotrophic lateral sclerosis (ALS) and
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.
Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
Chiò A, Moglia C, Canosa A, Manera U, Grassano M, Vasta R, Palumbo F, Gallone S, Brunetti M, Barberis M, De Marchi F, Dalgard C, Chia R, Mora G, Iazzolino B, Peotta L, Traynor BJ, Corrado L, D'Alfonso S, Mazzini L, Calvo A. Chiò A, et al. Neurology. 2023 Jul 4;101(1):e83-e93. doi: 10.1212/WNL.0000000000207367. Epub 2023 May 18. Neurology. 2023. PMID: 37202167 Free PMC article.
We considered Unc-13 homolog A (UNC13A) (rs12608932), calmodulin binding transcription activator 1 (CAMTA1) (rs2412208), solute carrier family 11 member 2 (SLC11A2) (rs407135), and zinc finger protein 512B (ZNF512B) (rs2275294) variants, as well as ataxin-2 (ATXN
We considered Unc-13 homolog A (UNC13A) (rs12608932), calmodulin binding transcription activator 1 (CAMTA1) (rs2412208), solute carrier fami …
Amyotrophic lateral sclerosis and cerebellum.
Kabiljo R, Iacoangeli A, Al-Chalabi A, Rosenzweig I. Kabiljo R, et al. Sci Rep. 2022 Jul 22;12(1):12586. doi: 10.1038/s41598-022-16772-5. Sci Rep. 2022. PMID: 35869263 Free PMC article.
Recently, repeat expansions in several genes in which variants appreciably contribute to cerebellar pathology, including C9orf72, NIPA1, ATXN2 and ATXN1, have been found to confer a significant risk for ALS. To better define this relationship, we performed MAGMA gene-based …
Recently, repeat expansions in several genes in which variants appreciably contribute to cerebellar pathology, including C9orf72, NIPA1, …
77 results