Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

(2017) Mi Ri Suh et al.   YONSEI MEDICAL JOURNAL

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

(2016) Mariko Okubo et al.   JOURNAL OF HUMAN GENETICS

A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: A first study

(2015) A Nalini et al.   NEUROLOGY INDIA

Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients

(2014) Chen Chen et al.   PLoS One

Missense Mutation Lys18Asn in Dystrophin that Triggers X-Linked Dilated Cardiomyopathy Decreases Protein Stability, Increases Protein Unfolding, and Perturbs Protein Structure, but Does Not Affect Protein Function

(2014) Surinder M. Singh et al.   PLoS One

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

(2013) Catherine L. Bladen et al.   HUMAN MUTATION

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

(2013) Fumi Takeuchi et al.   JOURNAL OF NEUROLOGY

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

(2013) Harumasa Nakamura et al.   Orphanet Journal of Rare Diseases

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea

(2012) Bo Lyun Lee et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

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

Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation

(2010) D. M. Henderson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

(2009) Annemieke Aartsma-Rus 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

Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations

(2008) Xiaozhu Wang et al.   Behavioral and Brain Functions

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

(2008) Albena Todorova et al.   NEUROMUSCULAR DISORDERS