Results 121 to 130 of about 16,852 (152)

Zaspopathy in a large classic late-onset distal myopathy family

Brain, 2007
Engelen B, B Udd, P Hackman
exaly  

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants

Neuromuscular Disorders, 2016
Margherita Milone, P James B Dyck
exaly  

Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

American Journal of Human Genetics, 1998
Jacques S Beckmann, C E Jackson, H Feit
exaly  

Autosomal dominant distal myopathy due to a novel ACTA1 mutation

Neuromuscular Disorders, 2017
Teerin Liewluck, Margherita Milone, Eric J Sorenson   +2 more
exaly  

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

Neuromuscular Disorders, 2007
Sebastiaan Overeem, H J Ter Laak, Helenius J Schelhaas   +2 more
exaly  

Distal myopathy due to BICD2 mutations

Clinical Neurology and Neurosurgery, 2018
Yamada Af, Wladimir Bocca Vieira De Rezende Pinto, André Yui Aihara   +2 more
exaly  

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Neuromuscular Disorders, 2017
Nigel Laing, Conrad C Weihl, Alan Pestronk   +2 more
exaly  

Distal lipid storage myopathy due to PNPLA2 mutation

Neuromuscular Disorders, 2008
Satoru Noguchi, Ichizo Nishino, May Christine Malicdan   +2 more
exaly  

Distal Type of Myopathy

Proceedings of the Royal Society of Medicine, 1910
openaire   +2 more sources

Welander distal myopathy is not linked to other defined distal myopathy gene loci

Neuromuscular Disorders, 1997
G Ahlberg, L Edstrom, K Borg
exaly