Nemaline Myopathies
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Reference73 articles.
1. Zebra body myopathy;Lake;J Neurol Sci,1975
2. Nemaline myopathy;Shy;Brain,1963
3. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores;Sambuughin;Am J Hum Genet,2010
4. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin;Wallgren-Pettersson;Neuromuscul Disord,2004
5. Sporadic late onset nemaline myopathy;Chahin;Neurology,2005
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1. Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-01
2. Characterization ofNEBmutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects;2023-12-21
3. Tubular aggregate myopathy causing progressive fatiguable weakness;Practical Neurology;2023-11-03
4. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy;Neurological Sciences;2023-10-18
5. Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy;The American Journal of Pathology;2023-10
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