Cargando…

Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease

BACKGROUND: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth (CMT) disease and over 80 different mutations have been identified so far. This study analyzed the clinical and genetic characteristics of a Vietnamese CMT family that was affected by a novel GDA...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mai, Phuong-Thao, Le, Dong-Truc, Nguyen, Tan-Trung, Le Gia, Hoang-Linh, Nguyen Le, Trung-Hieu, Le, Minh, Do, Duc-Minh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507255/ https://www.ncbi.nlm.nih.gov/pubmed/31179332 http://dx.doi.org/10.1155/2019/7132494

Ejemplares similares

Genotype–phenotype characteristics of Vietnamese patients diagnosed with Charcot–Marie–Tooth disease
por: Nguyen‐Le, Trung‐Hieu, et al.
Publicado: (2022)

Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1
por: Sutinen, Aleksi, et al.
Publicado: (2022)

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations
por: Kim, Hyun Su, et al.
Publicado: (2021)

High-Resolution HLA Typing of HLA-A, -B, -C, -DRB1, and -DQB1 in Kinh Vietnamese by Using Next-Generation Sequencing
por: Do, Minh Duc, et al.
Publicado: (2020)

Risk factors for cutaneous reactions to allopurinol in Kinh Vietnamese: results from a case-control study
por: Do, Minh Duc, et al.
Publicado: (2020)

First Reported Case of Anti-Ampa Receptor Encephalitis in a Vietnamese Adolescent
por: Trung Hieu, Nguyen Le, et al.
Publicado: (2021)

Clinical and genetic analysis of Vietnamese patients diagnosed with early‐onset Parkinson's disease
por: Do, Minh Duc, et al.
Publicado: (2023)

The Gdap1 knockout mouse mechanistically links redox control to Charcot–Marie–Tooth disease
por: Niemann, Axel, et al.
Publicado: (2014)

Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease
por: Cantarero, Lara, et al.
Publicado: (2020)

Association of HLA-B(∗)38:02 with Antithyroid Drug-Induced Agranulocytosis in Kinh Vietnamese Patients
por: Thao, Mai Phuong, et al.
Publicado: (2018)

Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot–Marie–Tooth disease
por: Chen, Cong‐Xin, et al.
Publicado: (2020)

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family
por: Martin, Angela M, et al.
Publicado: (2015)

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
por: Pedrola, Laia, et al.
Publicado: (2008)

Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland
por: Lehtilahti, Maria, et al.
Publicado: (2021)

Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects
por: Manzoor, Uzma, et al.
Publicado: (2023)

Association between ACE I/D genetic polymorphism and the severity of coronary artery disease in Vietnamese patients with acute myocardial infarction
por: Tran, Duy Cong, et al.
Publicado: (2023)

Utilization of Response Surface Methodology in Optimization of Polysaccharides Extraction from Vietnamese Red Ganoderma lucidum by Ultrasound-Assisted Enzymatic Method and Examination of Bioactivities of the Extract
por: Do, Dat Tran, et al.
Publicado: (2021)

Matrix metalloproteinases in Vietnamese patients with colorectal cancer
por: Bui, Thao Phuong, et al.
Publicado: (2017)

Association Between AGT M235T and Left Ventricular Mass in Vietnamese Patients Diagnosed With Essential Hypertension
por: Tran, Tuan Thanh, et al.
Publicado: (2021)

The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis
por: Nguyen, Bac Hoang, et al.
Publicado: (2022)

Proteomic Profiling of Small Extracellular Vesicles Isolated from the Plasma of Vietnamese Patients with Non-Small Cell Lung Cancer Reveals Some Potential Biomarkers
por: Bui, Thao Phuong, et al.
Publicado: (2022)

Genetic landscape of autism spectrum disorder in Vietnamese children
por: Tran, Kien Trung, et al.
Publicado: (2020)

Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy
por: Barneo-Muñoz, Manuela, et al.
Publicado: (2015)

Classification of Vietnamese Cashew Nut (Anacardium occidentale L.) Products Using Statistical Algorithms Based on ICP/MS Data: A Study of Food Categorization
por: Nguyen-Quang, Trung, et al.
Publicado: (2023)

Association of ADIPOQ Single-Nucleotide Polymorphisms with the Two Clinical Phenotypes Type 2 Diabetes Mellitus and Metabolic Syndrome in a Kinh Vietnamese Population
por: Truong, Steven, et al.
Publicado: (2022)

Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population
por: Tran, Nam Quang, et al.
Publicado: (2022)

Sex-difference in bone architecture and bone fragility in Vietnamese
por: Ho-Pham, Lan T., et al.
Publicado: (2018)

Vietnamese Version of the Geriatric Depression Scale (30 Items): Translation, Cross-Cultural Adaptation, and Validation
por: Nguyen, Thong Van, et al.
Publicado: (2021)

Polymerase chain reaction-based detection of coinfecting DNA viruses in Vietnamese pigs in 2017 and 2021
por: Nguyen, Van Giap, et al.
Publicado: (2022)

Bruxism, Related Factors and Oral Health-Related Quality of Life Among Vietnamese Medical Students
por: Phuong, Nguyen Thi Thu, et al.
Publicado: (2020)

GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons
por: Miressi, Federica, et al.
Publicado: (2021)

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families
por: Xie, Yongzhi, et al.
Publicado: (2022)

A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam
por: Truong, Anh Tuan, et al.
Publicado: (2022)

Diagnosis of Charcot-Marie-Tooth Disease
por: Banchs, Isabel, et al.
Publicado: (2009)

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease
por: Ouyang, Zhi-Yuan, et al.
Publicado: (2020)

Validity and Reliability of the Vietnamese Version of the Dental Fear Survey
por: Dong, Uyen-Anh Thi, et al.
Publicado: (2022)

Metagenomic 16S rDNA amplicon data of microbial diversity of guts in Vietnamese humans with type 2 diabetes and nondiabetic adults
por: Hoang, Hung The, et al.
Publicado: (2020)

Clinical and Virological Features of Dengue in Vietnamese Infants
por: Bich Chau, Tran Nguyen, et al.
Publicado: (2010)

Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma
por: Kiet, Nguyen Cong, et al.
Publicado: (2019)

Select amino acids in DGCR8 are essential for the UGU-pri-miRNA interaction and processing
por: Dang, Thi Lieu, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_u734lbjgi367d91hrjuld95u1u