Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome-Reference-Cited by-同舟云学术

Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome

Published:2016-05-27 Issue:4 Volume:54 Page:794-797
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Hommel Alyson L.¹,Jewett Tamison²,Mortenson Megan²,Caress James B.¹

Affiliation:

1. Department of Neurology; Section on Neuromuscular Medicine, Wake Forest School of Medicine; Winston-Salem North Carolina USA

2. Department of Pediatrics; Section on Medical Genetics, Wake Forest School of Medicine; Winston-Salem North Carolina USA

Funder

Cytokinetics Inc

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Reference16 articles.

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2. Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan;Tashiro;Amyotroph Lateral Scler,2006

3. Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy;Lim;Neuromuscul Disord,2012

4. Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease): superoxide dismutase 1 genotype and activity;Robberecht;Arch Neurol,1997

5. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations;Parrini;Brain,2006

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1. Association of joint hypermobility with range of cervical motion and its impact on the motor unit loss in patients with Hirayama disease;Muscle & Nerve;2023-08-28

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5. Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome;Orphanet Journal of Rare Diseases;2021-12