(Q34134421)

31 July 2017

1 reference

title

Surplus protein myopathies (English)

1 reference

31 July 2017

Goebel HH

1

1 reference

PubMed ID

11166159

31 July 2017

Warlo IA

series ordinal

2

1 reference

31 July 2017

1 January 2001

1 reference

31 July 2017

Neuromuscular Disorders

1 reference

31 July 2017

11

1 reference

31 July 2017

3-6

1 reference

31 July 2017

1

1 reference

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Nebulin is normally expressed in nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop. December 12-14, 1997, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Storage of phosphorylated desmin in a familial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Familial desmin myopathies and cytoplasmic body myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Familial desmin-related myopathies and cardiomyopathies--from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20-22 October, 1995, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle: report of a case with immunoelectron microscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Inclusions in familial cytoplasmic body myopathy are stained by anti-dystrophin antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Ubiquitin, cellular inclusions and their role in neurodegeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Immunocytochemical co-localization of the proteasome in ubiquitinated structures in neurodegenerative diseases and the elderly.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Fatal congenital myopathy with actin filament deposits

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Congenital myopathy with excess of thin myofilaments

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Hyaline body myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Department of Neurology, Northwestern University Medical School, Chicago, Illinois

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900165-6

7 January 2021

10.1016/S0960-8966(00)00165-6

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

11166159