111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands-Reference-Cited by-同舟云学术

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands

Published:2004-11 Issue:11 Volume:14 Page:754-766
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jungbluth Heinz,Beggs Alan,Bönnemann Carsten,Bushby Kate,Ceuterick-de Groote Chantal,Estournet-Mathiaud Brigitte,Goemans Nathalie,Guicheney Pascale,Lescure Alain,Lunardi Joël,Muntoni Francesco,Quinlivan Ros,Sewry Caroline,Straub Volker,Treves Susan,Ferreiro Ana

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. 80th ENMC international workshop on multi-minicore disease: first international MmD workshop. 12–13th May, 2000, Soestduinen, The Netherlands;Ferreiro;Neuromuscul Disord,2002

2. Minicore myopathy in children: a clinical and histopathological study of 19 cases;Jungbluth;Neuromuscul Disord,2000

3. Multi-minicore disease—searching for boundaries: phenotype analysis of 38 cases;Ferreiro;Ann Neurol,2000

4. Malignant hyperthermia;MacLennan;Science,1992

5. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor;Monnier;Hum Mol Genet,2001

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