CHMP2B mutations are rare in French families with frontotemporal lobar degeneration-Reference-Cited by-同舟云学术

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CHMP2B mutations are rare in French families with frontotemporal lobar degeneration

Published:2010-07-14 Issue:12 Volume:257 Page:2032-2036
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Ghanim Mustapha, ,Guillot-Noel Léna,Pasquier Florence,Jornea Ludmila,Deramecourt Vincent,Dubois Bruno,Ber Isabelle,Brice Alexis

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-010-5655-8.pdf

Reference20 articles.

1. Neary D, Snowden J, Mann D (2005) Frontotemporal dementia. Lancet Neurol 4:771–780

2. Chow TW, Miller BL, Hayashi VN, Geschwind DH (1999) Inheritance of frontotemporal dementia. Arch Neurol 56(7):817–822

3. Rosso SM, Donker Kaat L, Baks T, Joosse M, de Koning I, Pijnenburg Y, de Jong D, Dooijes D, Kamphorst W, Ravid R, Niermeijer MF, Verheij F, Kremer HP, Scheltens P, van Duijn CM, Heutink P, van Swieten JC (2003) Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 126(Pt 9):2016–2022

4. Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sørensen SA, Gydesen S, Fisher EM, Collinge J (2005) Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 37(8):806–808

5. Shim S, Kimpler LA, Hanson PI (2007) Structure/function analysis of four core ESCRT-III proteins reveals common regulatory role for extreme C-terminal domain. Traffic 8(8):1068–1079

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1. A novel splice‐site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review;Molecular Genetics & Genomic Medicine;2023-06-05

2. Alteration of the Neuromuscular Junction and Modifications of Muscle Metabolism in Response to Neuron-Restricted Expression of the CHMP2Bintron5 Mutant in a Mouse Model of ALS-FTD Syndrome;Biomolecules;2022-03-24

3. Modelling amyotrophic lateral sclerosis in rodents;Nature Reviews Neuroscience;2022-03-08

4. Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis;Neurobiology of Disease;2021-01

5. Neuroprotective activity of ursodeoxycholic acid in CHMP2B models of frontotemporal dementia;Neurobiology of Disease;2020-10

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