Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion-Reference-Cited by-同舟云学术

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion

Published:2019-10-26 Issue:1 Volume:21 Page:29-37
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Echaniz-Laguna Andoni^ORCID,Cuisset Jean-Marie,Guyant-Marechal Lucie,Aubourg Patrick,Kremer Laurent,Baaloul Naziha,Verloes Alain,Beladgham Kouider,Perrot Jimmy,Francou Bruno,Latour Philippe

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-019-00596-z.pdf

Reference26 articles.

1. Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM (2014) Giant axonal neuropathy: an updated perspective on its pathology and pathogenesis. Muscle Nerve 50:467–476

2. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M (2000) The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 26:370–374

3. Tazir M, Vallat JM, Bomont P, Zemmouri R, Sindou P, Assami S, Nouioua S, Hammadouche T, Grid D, Koenig M (2002) Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. Neuromuscul Disord 12:849–852

4. Bomont P, Ioos C, Yalcinkaya C et al (2003) Identification of seven novel mutations in the GAN gene. Hum Mutat 21:446

5. Bruno C, Bertini E, Federico A et al (2004) Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Neurology 62:13–16

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