Cylindrical spirals in two families: Clinical and genetic investigations
Author:
Funder
Fred Liuzzi Foundation
NGL
GR
NHMRC
ISCIII
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference45 articles.
1. Cylindrical spirals in skeletal muscles originate from the longitudinal sarcoplasmic reticulum;Xu;J Neuropathol Exp Neurol,2016
2. Cylindrical spirals in human skeletal muscle;Carpenter;Muscle Nerve,1979
3. Cylindrical spirals in a familial neuromuscular disorder;Bove;Ann Neurol,1980
4. Spiral membrane cylinders in the skeletal muscle of a patient with melorheostosis;Mcdougall;Neuropathol Appl Neurobiol,1980
5. Cylindrical spirals in skeletal muscle: a further observation with clinical, morphological, and biochemical analysis;Gibbels;Muscle Nerve,1983
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