NEB-related core-rod myopathy with distinct clinical and pathological features-Reference-Cited by-同舟云学术

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NEB-related core-rod myopathy with distinct clinical and pathological features

Published:2016-01-18 Issue:3 Volume:53 Page:479-484
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Park Young-Eun¹²,Shin Jin-Hong¹³,Kang Boram³,Lee Chang-Hoon²⁴,Kim Dae-Seong¹³

Affiliation:

1. Department of Neurology; Pusan National University Yangsan Hospital; Beomo-ri, Mulgeum-eup, Yangsan 626-770 Gyeongnam South Korea

2. Biomedical Research Institute; Pusan National University Hospital; Busan South Korea

3. Research Institute for Convergence of Biomedical Research and Technology; Pusan National University Yangsan Hospital; Gyeongnam South Korea

4. Department of Pathology; Pusan National University; Busan South Korea

Funder

Biomedical Research Institute Grant

Publisher

Wiley

Subject

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

Reference21 articles.

1. Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts;Donner;Eur J Hum Genet,2004

2. The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization;Ottenheijm;Front Physiol,2012

3. Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing;Scoto;Eur J Hum Genet,2013

4. Mutations in the nebulin gene can cause severe congenital nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,2002

5. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin;Wallgren-Pettersson;Neuromuscul Disord,2004

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1. Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study;Orphanet Journal of Rare Diseases;2023-11-30

2. Diagnostic Approaches to Various Muscle Diseases Based on Muscle Pathology;Journal of the Korean Neurological Association;2021-11-01

3. Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin;Neuromuscular Disorders;2021-06

4. Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1;Neurology Genetics;2020-06-30

5. Characterization of congenital myopathies at a Korean neuromuscular center;Muscle & Nerve;2018-05-20

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