Results 1 to 10 of about 924,459 (214)
Some of the next articles are maybe not open access.

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

Neuromuscular Disorders, 2015
Yi Dai   +7 more
semanticscholar   +1 more source

Congenital nemaline myopathy with dilated cardiomyopathy: An autopsy study

Human Pathology, 1990
Masami Imakita
exaly  

Congenital myopathy with excess of thin myofilaments

Neuromuscular Disorders, 1997
H Goebel, Christoph Hübner, C Hübner
exaly  

Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Syndrome: A Mixed Congenital Myopathy

Neuropediatrics, 2001
M Albani, L Goldfarb
exaly  

Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.

Pediatric Neurology, 2014
Shalea J Piteau   +3 more
semanticscholar   +1 more source

A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis

Clinical Genetics, 2017
M. Garibaldi   +12 more
semanticscholar   +1 more source

Congenital fiber type disproportion myopathy caused by LMNA mutations

Journal of the Neurological Sciences, 2014
Satoru Noguchi   +2 more
exaly  

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Neuromuscular Disorders, 2002
Kati Donner   +2 more
exaly  

Neonatal Swallowing Assessment and Practical Recommendations for Oral Feeding in a Girl With a Severe Congenital Myopathy

Journal of Child Neurology, 2011
Lenie Van Den Engel-Hoek   +2 more
exaly  

Normal Cardiac Contractility in Patients with Congenital Nemaline Myopathy

Neuropediatrics, 1988
C Wallgren-Pettersson
exaly  
medicine
biology
nemaline myopathy
myopathy
congenital
exome sequencing
core myopathy
centronuclear myopathy
congenital fiber-type disproportion myopathy
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