Results 11 to 20 of about 3,165 (200)
Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies
Acta Neuropathologica Communications, 2023 Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy.
Stefan Nicolau +7 more
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy [PDF]
Acta Neuropathologica Communications, 2018 Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal +5 more
doaj +2 more sources
Pediatric Neurology Briefs, 1994 A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj +2 more sources
Nemaline myopathy: A report of four cases
Annals of Indian Academy of Neurology, 2007 Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A +3 more
doaj +1 more source
neb: a zebrafish model of nemaline myopathy due to nebulin mutation
Disease Models & Mechanisms, 2012 SUMMARY Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties.
William R. Telfer +4 more
doaj +2 more sources
Respiratory treatment in a patient with nemaline myopathy
Clinics and Practice, 2019 Respiratory involvement of nemaline myopathy is evident on the diaphragm and intercostal muscles function. The present case study aimed to describe the characteristics of the respiratory physiotherapeutic treatment in a patient with nemaline myopathy ...
Massimiliano Polastri +3 more
doaj +2 more sources
Dominantly Inherited Nemaline Myopathy
Pediatric Neurology Briefs, 2003 A locus on chromosome 15q21-23 for a dominantly inherited nemaline myopathy with core-like lesions is reported in two unrelated families evaluated at University Medical Center, Nijmegen, The Netherlands.
J Gordon Millichap
doaj +2 more sources
Nemaline myopathies: a current view [PDF]
Journal of Muscle Research and Cell Motility, 2019 Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause.
Caroline A. Sewry +2 more
openaire +5 more sources
Nemaline Myopathy: Clinical Study
Pediatric Neurology Briefs, 2001 Clinical and genetic characteristics, prognostic risk factors, and classification of nemaline myopathy (NM) are examined in a study of 143 cases identified at two centers in Australia and North America and reported from the Neurogenetics Research Unit ...
J Gordon Millichap
doaj +2 more sources
Nemaline Myopathy: Respiratory Failure
Pediatric Neurology Briefs, 1991 A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira,
J Gordon Millichap
doaj +2 more sources