A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation-Reference-Cited by-同舟云学术

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Published:2003-12 Issue:10 Volume:13 Page:830-834
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Krause Sabine,Schlotter-Weigel Beate,Walter Maggie C.,Najmabadi Hossein,Wiendl Heinz,Müller-Höcker Josef,Müller-Felber Wolfgang,Pongratz Dieter,Lochmüller Hanns

Publisher

Elsevier BV

Subject

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

Reference17 articles.

1. Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy;Carpenter;Neurology,1978

2. New advances in inclusion-body myositis;Askanas;Curr Opin Rheumatol,1993

3. Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms;Askanas;Curr Opin Neurol,2002

4. Muscle biopsy findings in inflammatory myopathies;Dalakas;Rheum Dis Clin North Am,2002

5. ‘Rimmed vacuole myopathy’ sparing the quadriceps: a unique disorder in Iranian Jews;Argov;J Neurol Sci,1984

Cited by 60 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Understanding pathophysiology of GNE myopathy and current progress towards drug development;Journal of Biosciences;2024-02-19

2. GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation;Glycobiology;2024-01-15

3. Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE);Biomolecules;2023-02-23

4. GNE Myopathy;Current Clinical Neurology;2023

5. Targeting Immune-Mediated Responses to Tackle GNE Myopathy;BiTaP 2022;2022-07-07