Amyloidosis and exercise intolerance in ANO5 muscular dystrophy-Reference-Cited by-同舟云学术

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Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Published:2012-01 Issue:1 Volume:22 Page:13-15
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Milone Margherita,Liewluck Teerin,Winder Thomas L.,Pianosi Paolo T.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference10 articles.

1. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD);Tsutsumi;Am J Hum Genet,2004

2. Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1;Tsutsumi;Biochem Biophys Res Commun,2005

3. Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia;Mizuta;Biochem Biophys Res Commun,2007

4. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

5. A new distal myopathy with mutation in anoctamin 5;Mahjneh;Neuromuscul Disord,2010

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2. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect;The American Journal of Human Genetics;2024-06

3. ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies;Genes & Diseases;2022-11

4. Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review;Genes;2022-09-27

5. Miopatie distali;EMC - Neurologia;2022-08

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