Cargando…

Comprehensive genetic characteristics of dystrophinopathies in China

BACKGROUND: Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum. A national registration network is essential not only to provide more information about the prevalence and natu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ma, Peipei, Zhang, Shu, Zhang, Hao, Fang, Siying, Dong, Yuru, Zhang, Yan, Hao, Weiwei, Wu, Shiwen, Zhao, Yuying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032532/ https://www.ncbi.nlm.nih.gov/pubmed/29973226 http://dx.doi.org/10.1186/s13023-018-0853-z

Ejemplares similares

Correction to: Comprehensive genetic characteristics of dystrophinopathies in China
por: Ma, Peipei, et al.
Publicado: (2021)

Clinical and genetic characteristics of female dystrophinopathy carriers
por: Zhong, Jingzi, et al.
Publicado: (2019)

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
por: Okubo, Mariko, et al.
Publicado: (2017)

A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center
por: Tong, Yuan-Ren, et al.
Publicado: (2020)

Clinical and Genetic Characterization of Female Dystrophinopathy
por: Lee, Seung Ha, et al.
Publicado: (2015)

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies
por: Xie, Zhiying, et al.
Publicado: (2020)

Late-Onset Dystrophinopathy
por: Singh, Ranjan K
Publicado: (2021)

MicroRNAs in Dystrophinopathy
por: Lee, Ahyoung, et al.
Publicado: (2022)

EMQN best practice guidelines for genetic testing in dystrophinopathies
por: Fratter, Carl, et al.
Publicado: (2020)

Involvement of adiponectin in the pathogenesis of dystrophinopathy
por: Abou-Samra, Michel, et al.
Publicado: (2015)

Reassessing carrier status for dystrophinopathies
por: Newcomb, Tara M., et al.
Publicado: (2016)

Advances in Dystrophinopathy Diagnosis and Therapy
por: Saad, Fawzy A., et al.
Publicado: (2023)

Efficacy and safety of hydrokinesitherapy in patients with dystrophinopathy
por: Suslov, V. M., et al.
Publicado: (2023)

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study
por: Yun, UnKyu, et al.
Publicado: (2021)

A manifesting female carrier of Duchenne muscular dystrophy: importance of genetics for the dystrophinopathies
por: Quak, Zhi Xuan, et al.
Publicado: (2023)

Ataluren treatment of patients with nonsense mutation dystrophinopathy
por: Bushby, Katharine, et al.
Publicado: (2014)

Molecular Diagnosis in 100% of Dystrophinopathies: Are We There Yet?
por: Pegoraro, Elena
Publicado: (2021)

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies
por: Wang, Liang, et al.
Publicado: (2019)

Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India
por: Kumari, Preeti, et al.
Publicado: (2018)

Needs management in families affected by childhood-onset dystrophinopathies
por: Conway, Kristin M, et al.
Publicado: (2019)

Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan
por: Kobayashi, Michio, et al.
Publicado: (2018)

Serum creatinine as a biomarker for dystrophinopathy: a cross-sectional and longitudinal study
por: Wang, Liang, et al.
Publicado: (2021)

Current care practices for patients with Duchenne muscular dystrophy in China
por: Zhang, Shu, et al.
Publicado: (2022)

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy
por: Triana-Fonseca, Paula, et al.
Publicado: (2021)

A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images
por: Yang, Mei, et al.
Publicado: (2021)

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy
por: Nakamura, Akinori
Publicado: (2015)

Exploring the acceptability of implantable defibrillators in patients with cardiac dystrophinopathy and carers
por: Hiermeier, Ursula M, et al.
Publicado: (2020)

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy
por: de Feraudy, Yvan, et al.
Publicado: (2020)

Proteomic profiling of the interface between the stomach wall and the pancreas in dystrophinopathy
por: Dowling, Paul, et al.
Publicado: (2021)

The Expanding Spectrum of Dystrophinopathies: HyperCKemia to Manifest Female Carriers
por: Suthar, Renu, et al.
Publicado: (2021)

Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy
por: Xu, Ying, et al.
Publicado: (2019)

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes
por: Sun, Feng, et al.
Publicado: (2018)

Ratio of Creatine Kinase to Alanine Aminotransferase as a Biomarker of Acute Liver Injury in Dystrophinopathy
por: Wang, Liang, et al.
Publicado: (2018)

Targeted regulation of TAK1 counteracts dystrophinopathy in a DMD mouse model
por: Roy, Anirban, et al.
Publicado: (2023)

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
por: Juan-Mateu, Jonàs, et al.
Publicado: (2013)

Proteomic Profiling of the Dystrophin-Deficient mdx Phenocopy of Dystrophinopathy-Associated Cardiomyopathy
por: Holland, Ashling, et al.
Publicado: (2014)

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
por: Juan-Mateu, Jonàs, et al.
Publicado: (2012)

Proof of Concept of the Ability of the Kinect to Quantify Upper Extremity Function in Dystrophinopathy
por: Lowes, Linda P, et al.
Publicado: (2013)

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies
por: Bello, Luca, et al.
Publicado: (2016)

Urine mRNA to identify a novel pseudoexon causing dystrophinopathy
por: Antoury, Layal, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_989i90lhtudenhq0a1jvvfpnuu