Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway-Reference-Cited by-同舟云学术

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Molecular and Clinical Characteristics of a National Cohort of Paediatric Duchenne Muscular Dystrophy Patients in Norway

Published:2019-09-03 Issue:3 Volume:6 Page:349-359
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Annexstad Ellen Johanne¹²,Fagerheim Toril³,Holm Inger²⁴,Rasmussen Magnhild¹⁵

Affiliation:

1. Oslo University Hospital, Unit for Congenital and Inherited Neuromuscular Disorders, Oslo, Norway

2. University of Oslo, Faculty of Medicine, Oslo, Norway

3. University Hospital of North Norway, Department of Medical Genetics, Tromso, Norway

4. Oslo University Hospital, Division of Orthopaedic Surgery, Section of Research, Oslo, Norway

5. Oslo University Hospital, Department of Clinical Neurosciences for Children, Oslo, Norway

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

Reference35 articles.

1. Evidence-based path to newborn screening for Duchenne muscular dystrophy;Mendell;Ann Neurol,2012

2. Population frequencies of inherited neuromuscular diseases—A world survey;Emery;Neuromuscul Disord,1991

3. Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals;Koenig;Cell,1987

4. Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule;Aartsma-Rus;Muscle Nerve,2006

5. Costameres: The achilles’ heel of herculean muscle;Ervasti;J Biol Chem,2003

Cited by 11 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. Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications;Frontiers in Pediatrics;2023-11-10

2. DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians;Journal of Clinical Neuromuscular Disease;2023-06

3. The discovery of the DNA methylation episignature for Duchenne muscular dystrophy;Neuromuscular Disorders;2023-01

4. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications;Neurology;2021-12-22

5. Induced pluripotent stem cells from urine of Duchenne muscular dystrophy patients;Pediatrics International;2021-07-13

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