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Nemaline and myotubular myopathies

  • Published:2002-06 Issue:2 Volume:9 Page:132-144
  • ISSN:1071-9091
  • Container-title:Seminars in Pediatric Neurology
  • language:en
  • Short-container-title:Seminars in Pediatric Neurology

Author:

Wallgren-Pettersson Carina

Publisher

Elsevier BV

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Reference79 articles.

1. 40th ENMC Sponsored International Workshop: Nemaline Myopathy;Wallgren-Pettersson,1996

2. Nemaline myopathy: A new congenital myopathy;Shy;Brain,1963

3. Light and electron microscopic studies of “myogranule” in a child with hypotonia and muscle weakness;Conen;Can Med Assoc J,1963

4. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders;McKusick,1998

5. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,1999

Cited by 15 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia;Revista de Neurología;2024

2. Muscle Disease and Dysfunction;Pathology and Intervention in Musculoskeletal Rehabilitation;2016

3. Congenital and Other Structural Myopathies;Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015

4. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy;The American Journal of Human Genetics;2013-12

5. Consensus Statement on Standard of Care for Congenital Myopathies;Journal of Child Neurology;2012-03
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