(Q53050086)

10 May 2018

title

A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers. (English)

1 reference

10 May 2018

main subject

dropped head syndrome

1 reference

1 reference

2

Margherita Milone

1 reference

10 May 2018

Teerin Liewluck

1

1 reference

10 May 2018

Michelle L Mauermann

3

1 reference

10 May 2018

Melissa Castro-Couch

4

1 reference

10 May 2018

Jane H Cerhan

5

1 reference

10 May 2018

Naveen S Murthy

6

1 reference

10 May 2018

publication date

14 July 2014

1 reference

10 May 2018

published in

Muscle and Nerve

1 reference

10 May 2018

volume

50

1 reference

10 May 2018

issue

2

1 reference

10 May 2018

page(s)

295-299

1 reference

10 May 2018

Facioscapulohumeral dystrophy and scapuloperoneal syndromes

cites work

1 reference

Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches

21 January 2018

1 reference

Emery–Dreifuss muscular dystrophy

21 January 2018

1 reference

Hereditary myosin myopathies

21 January 2018

1 reference

Reducing body myopathy and other FHL1-related muscular disorders.

21 January 2018

1 reference

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

21 January 2018

1 reference

21 January 2018

Myofibrillar myopathies

1 reference

Clinical features of facioscapulohumeral muscular dystrophy 2.

21 January 2018

1 reference

Limb-girdle muscular dystrophy 2A.

21 January 2018

1 reference

Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite

21 January 2018

1 reference

Permanent muscle weakness in McArdle disease.

21 January 2018

1 reference

Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy

21 January 2018

1 reference

Clinicopathological features of genetically confirmed Danon disease

21 January 2018

1 reference

Winged scapula in patients with myotonic dystrophy type 1.

21 January 2018

1 reference

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 January 2018

1 reference

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

21 January 2018

1 reference

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.

21 January 2018

1 reference

Motor neuron involvement in multisystem proteinopathy: implications for ALS

21 January 2018

1 reference

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

21 January 2018

1 reference

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

21 January 2018

1 reference

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

Diagnostic impact of myotonic discharges in myofibrillar myopathies

21 January 2018

1 reference

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24

21 January 2018

1 reference

Valosin-containing protein gene mutations: clinical and neuropathologic features.

21 January 2018

1 reference

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

21 January 2018

1 reference

gp78: a multifaceted ubiquitin ligase that integrates a unique protein degradation pathway from the endoplasmic reticulum

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MUS.24290

1 reference

10 May 2018

1 reference

10 May 2018