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。Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy
Xiangdong Kong et al.
BMC MEDICAL GENETICS (2019)
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center
Jingjing Zhang et al.
BMC MEDICAL GENETICS (2019)
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management (vol 17, pg 251, 2018)
J. F. Zimmermann et al.
LANCET NEUROLOGY (2018)
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
David J. Birnkrant et al.
LANCET NEUROLOGY (2018)
Genetic therapies for inherited neuromuscular disorders
Mariacristina Scoto et al.
LANCET CHILD & ADOLESCENT HEALTH (2018)
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Craig M. McDonald et al.
LANCET (2017)
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy
Huanhuan Wang et al.
PRENATAL DIAGNOSIS (2017)
Eteplirsen in the treatment of Duchenne muscular dystrophy
Kenji Rowel Q. Lim et al.
DRUG DESIGN DEVELOPMENT AND THERAPY (2017)
Next-generation sequencing in neuromuscular diseases
Stephanie Efthymiou et al.
CURRENT OPINION IN NEUROLOGY (2016)
Current and emerging treatment strategies for Duchenne muscular dystrophy
Jean K. Mah
NEUROPSYCHIATRIC DISEASE AND TREATMENT (2016)
MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai
Xing Ji et al.
JOURNAL OF CLINICAL LABORATORY ANALYSIS (2015)
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study
Xiaoming Wei et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
New developments in the use of gene therapy to treat Duchenne muscular dystrophy
Susan Jarmin et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2014)
ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY
Katharine Bushby et al.
MUSCLE & NERVE (2014)
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy
Jean K. Mah et al.
NEUROMUSCULAR DISORDERS (2014)
Exon-Skipping Therapy: A Roadblock, Detour, or Bump in the Road?
Eric P. Hoffman et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Emerging gene editing strategies for Duchenne muscular dystrophy targeting stem cells
Carmen Bertoni
FRONTIERS IN PHYSIOLOGY (2014)
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
Kane L. Greer et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2014)
Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)
Stuart J. Moat et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
Sandra Mercier et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform
Byung Chan Lim et al.
JOURNAL OF MEDICAL GENETICS (2011)
Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients
Ammar Madania et al.
CLINICAL BIOCHEMISTRY (2010)
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Katharine Bushby et al.
LANCET NEUROLOGY (2010)
Clinical and genetic characterization of manifesting carriers of DMD mutations
Payam Soltanzadeh et al.
NEUROMUSCULAR DISORDERS (2010)
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy
A. T. J. M. Helderman-van den Enden et al.
CLINICAL GENETICS (2009)