Genotype–phenotype correlations in Duchenne and Becker muscular dystrophy patients from the Canadian neuromuscular disease registry
KRQ Lim, Q Nguyen, T Yokota - Journal of Personalized Medicine, 2020 - mdpi.com
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by
out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to …
out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to …
Advances in genetic characterization and genotype–phenotype correlation of Duchenne and becker muscular dystrophy in the personalized medicine era
O Sheikh, T Yokota - Journal of Personalized Medicine, 2020 - mdpi.com
Currently, Duchenne muscular dystrophy (DMD) and the related condition Becker muscular
dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing …
dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing …
DMD gene and dystrophinopathy phenotypes associated with mutations: a systematic review for clinicians
JG Andrews, MK Galindo, S Thomas… - Journal of clinical …, 2023 - journals.lww.com
The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic
testing in approximately 95% of cases. Although specific mutations can be associated with …
testing in approximately 95% of cases. Although specific mutations can be associated with …
Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine
F Mohammed, A Elshafey, H Al-Balool, H Alaboud… - PloS one, 2018 - journals.plos.org
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive
neuromuscular disorders characterized by progressive irreversible muscle weakness and …
neuromuscular disorders characterized by progressive irreversible muscle weakness and …
Ethnicity-related DMD genotype landscapes in European and non-European countries
R Selvatici, R Rossi, F Fortunato, C Trabanelli… - Neurology …, 2020 - AAN Enterprises
Objective Genetic diagnosis and mutation identification are now compulsory for Duchenne
(DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin (DMD) gene …
(DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin (DMD) gene …
Genetic analysis of 1051 Chinese families with Duchenne/Becker muscular dystrophy
X Kong, X Zhong, L Liu, S Cui, Y Yang, L Kong - BMC medical genetics, 2019 - Springer
Abstract Background Duchenne Muscular Dystrophy (DMD) is the most common muscle
disease in children, and there are no effective therapies for DMD or Becker Muscular …
disease in children, and there are no effective therapies for DMD or Becker Muscular …
Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies
TL Stockley, S Akber, N Bulgin, PN Ray - Genetic testing, 2006 - liebertpub.com
Comprehensive molecular testing for mutations in the DMD gene causing Duchenne and
Becker muscular dystrophy (DMD/BMD) is challenging because of the large size of the gene …
Becker muscular dystrophy (DMD/BMD) is challenging because of the large size of the gene …
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study
X Wei, Y Dai, P Yu, N Qu, Z Lan, X Hong… - European Journal of …, 2014 - nature.com
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most commonly inherited
neuromuscular disease. However, accurate and convenient molecular diagnosis cannot be …
neuromuscular disease. However, accurate and convenient molecular diagnosis cannot be …
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited
neuromuscular disease. The genetic diagnosis is not easily made because of the large size …
neuromuscular disease. The genetic diagnosis is not easily made because of the large size …
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)
H Nakamura, E Kimura, M Mori-Yoshimura… - Orphanet journal of rare …, 2013 - Springer
Background Currently, clinical trials for new therapeutic strategies are being planned for
Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain …
Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain …
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