109th ENMC International Workshop: 5th Workshop on nemaline myopathy, 11th–13th October 2002, Naarden, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference11 articles.
1. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,1999
2. Report of the 70th ENMC International Workshop: nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,2000
3. Nebulin mutations in autosomal recessive nemaline myopathy: an update;Pelin;Neuromuscul Disord,2002
4. Mutations in the nebulin gene can cause severe congenital nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,2002
5. A new treatment for congenital nonprogressive nemaline myopathy;Kalita;J Orthomol Med,1989
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1. Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition;Frontiers in Neurology;2024-03-04
2. Early clinical and pre-clinical therapy development in Nemaline myopathy;Expert Opinion on Therapeutic Targets;2022-10-03
3. Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator tirasemtiv;International Journal of Molecular Sciences;2019-10-10
4. L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy;Scientific Reports;2018-07-31
5. Nemaline myopathy and severe dentofacial deformity − a case report;Orthodontic Update;2018-04-02
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