DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy

MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD

(2013) Juan Yang et al.   BMC Medical Genetics

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

(2013) Xiaoming Wei et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY

(2010) K. M. D. Bushby et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

(2009) Kevin M. Flanigan et al.   HUMAN MUTATION

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up

(2009) Isabelle Desguerre et al.   PLoS One

Mental Retardation and Lifetime Events of Duchenne Muscular Dystrophy in Japan

(2008) Hitoshi Mochizuki et al.   INTERNAL MEDICINE