Oligogenicity, C9orf72 expansion, and variant severity in ALS-Reference-Cited by-同舟云学术

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Oligogenicity, C9orf72 expansion, and variant severity in ALS

Published:2020-05-08 Issue:3 Volume:21 Page:227-242
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Ross Jay P.,Leblond Claire S.,Laurent Sandra B.,Spiegelman Dan,Dionne-Laporte Alexandre,Camu William,Dupré Nicolas,Dion Patrick A.,Rouleau Guy A.

Funder

Canadian Institutes of Health Research

ALS Society of Canada

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-020-00612-7.pdf

Reference20 articles.

1. van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH (2012) Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 21(17):3776–3784. https://doi.org/10.1093/hmg/dds199

2. Chio A, Mazzini L, D'Alfonso S, Corrado L, Canosa A, Moglia C, Manera U, Bersano E, Brunetti M, Barberis M, Veldink JH, van den Berg LH, Pearce N, Sproviero W, McLaughlin R, Vajda A, Hardiman O, Rooney J, Mora G, Calvo A, Al-Chalabi A (2018) The multistep hypothesis of ALS revisited: the role of genetic mutations. Neurology 91(7):e635–e642. https://doi.org/10.1212/WNL.0000000000005996

3. Cady J, Allred P, Bali T, Pestronk A, Goate A, Miller TM, Mitra RD, Ravits J, Harms MB, Baloh RH (2015) Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. Ann Neurol 77(1):100–113. https://doi.org/10.1002/ana.24306

4. Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, Project Min EALSSC, Ince PG, Hautbergue GM, McDermott CJ, Kirby J, Shaw PJ (2017) Targeted genetic screen in amyotrophic lateral sclerosis reveals novel genetic variants with synergistic effect on clinical phenotype. Front Mol Neurosci 10:370. doi:https://doi.org/10.3389/fnmol.2017.00370

5. Pang SY, Hsu JS, Teo KC, Li Y, Kung MHW, Cheah KSE, Chan D, Cheung KMC, Li M, Sham PC, Ho SL (2017) Burden of rare variants in ALS genes influences survival in familial and sporadic ALS. Neurobiol Aging 58(238):e239–238 e215. https://doi.org/10.1016/j.neurobiolaging.2017.06.007

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1. Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients;Journal of Neuromuscular Diseases;2024-09-03

2. NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons;Human Molecular Genetics;2024-09-02

3. The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications;2024-03-26

4. NEK1haploinsufficiency worsens DNA damage but not defective ciliogenesis inC9ORF72patient-derived iPSC-motoneurons;2024-03-12

5. Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome;Genetics in Medicine;2024-01

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