相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Congenital myopathies: an update
Kristl G. Claeys
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2020)
Myopathology of Congenital Myopathies: Bridging the Old and the New
Rahul Phadke
SEMINARS IN PEDIATRIC NEUROLOGY (2019)
Update on the Genetics of Congenital Myopathies
Katarina Pelin et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2019)
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Emily C. Oates et al.
ANNALS OF NEUROLOGY (2018)
CHARACTERIZATION OF CONGENITAL MYOPATHIES AT A KOREAN NEUROMUSCULAR CENTER
Young-Eun Park et al.
MUSCLE & NERVE (2018)
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction
Heinz Jungbluth et al.
NATURE REVIEWS NEUROLOGY (2018)
Treating pediatric neuromuscular disorders: The future is now
James J. Dowling et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Myopathology in congenital myopathies
C. A. Sewry et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2017)
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark
Nanna Witting et al.
NEUROLOGY-GENETICS (2017)
PIK3C2B inhibition improves function and prolongs survival in rnyotubular myopathy animal models
Nesrin Sabha et al.
JOURNAL OF CLINICAL INVESTIGATION (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Congenital myopathies Natural history of a large pediatric cohort
Irene Colombo et al.
NEUROLOGY (2015)
A Rising Titan: TTN Review and Mutation Update
Claire Chauveau et al.
HUMAN MUTATION (2014)
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
Belinda S. Cowling et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Approach to the diagnosis of congenital myopathies
Kathryn N. North et al.
NEUROMUSCULAR DISORDERS (2014)
Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
Martin K. Childers et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy
John Rendu et al.
HUMAN GENE THERAPY (2013)
Congenital myopathies - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
L. Maggi et al.
NEUROMUSCULAR DISORDERS (2013)
Extensive morphological and immunohistochemical characterization in myotubular myopathy
Minobu Shichiji et al.
BRAIN AND BEHAVIOR (2013)
Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies
Andrea Klein et al.
HUMAN MUTATION (2012)