Cargando…

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

BACKGROUND: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in Chinese CMT patients. Therefore, this study aims t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhao, Xin, Jiang, Ming-Ming, Yan, Yi-Zhou, Liu, Lei, Xie, Yong-Zhi, Li, Xiao-Bo, Hu, Zheng-Mao, Zi, Xiao-Hong, Xia, Kun, Tang, Bei-Sha, Zhang, Ru-Xu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776844/ https://www.ncbi.nlm.nih.gov/pubmed/29336362 http://dx.doi.org/10.4103/0366-6999.222331

Ejemplares similares

A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy
por: Hong, Young Bin, et al.
Publicado: (2016)

The role of PMP22 T118M in Charcot–Marie–Tooth disease remains unsolved
por: Record, Christopher J., et al.
Publicado: (2023)

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
por: Lupski, James R, et al.
Publicado: (2013)

Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication
por: Kim, Young Hwa, et al.
Publicado: (2012)

Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease
por: Liu, Xiaoxuan, et al.
Publicado: (2020)

Reply to Record et al. “The role of PMP22 T118M in Charcot–Marie–Tooth disease remains unsolved”
por: Stefanski, Katherine M., et al.
Publicado: (2023)

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
por: Pipis, Menelaos, et al.
Publicado: (2023)

Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
por: Yuan, Ru‐Ying, et al.
Publicado: (2020)

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)

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

Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
por: Mohsenpour, Neda, et al.
Publicado: (2019)

Erratum: Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication
por: Kim, Young Hwa, et al.
Publicado: (2012)

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
por: van Paassen, Barbara W, et al.
Publicado: (2014)

A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3: A case report
por: Han, Liang, et al.
Publicado: (2021)

AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A
por: Gautier, Benoit, et al.
Publicado: (2021)

Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A
por: Boutary, Suzan, et al.
Publicado: (2021)

Charcot–Marie–Tooth disease and intracellular traffic
por: Bucci, Cecilia, et al.
Publicado: (2012)

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease
por: Eltawansy, Sherif Ali, et al.
Publicado: (2015)

Anejaculation in a patient with Charcot–Marie–Tooth
por: Cannarella, Rossella, et al.
Publicado: (2018)

Charcot-Marie-Tooth: From Molecules to Therapy
por: Morena, Jonathan, et al.
Publicado: (2019)

Audiological findings in the Charcot-Marie-Tooth Disease
por: Fukushima, Erika, et al.
Publicado: (2015)

A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L
por: Zhang, Ruxu, et al.
Publicado: (2014)

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
por: Ho, Kwo Wei David, et al.
Publicado: (2018)

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report
por: Nan, Haitian, et al.
Publicado: (2022)

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B
por: Colecchia, David, et al.
Publicado: (2018)

SIRT2‐knockdown rescues GARS‐induced Charcot‐Marie‐Tooth neuropathy
por: Zhao, Yingying, et al.
Publicado: (2021)

MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
por: Nan, Haitian, et al.
Publicado: (2021)

Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy
por: Gu, Yingli, et al.
Publicado: (2022)

Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α(6) and myelin maintenance to Charcot-Marie-Tooth disease type 4C
por: Vijay, Sauparnika, et al.
Publicado: (2016)

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

Charcot-Marie-Tooth Disease: Seventeen Causative Genes
por: Lee, Jung-Hwa, et al.
Publicado: (2006)

Balance and muscle power of children with Charcot-Marie-Tooth
por: Silva, Tais R., et al.
Publicado: (2014)

Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease
por: Lee, Hyoung-Song, et al.
Publicado: (2013)

A SIMPLE explanation for Charcot-Marie-Tooth disease
por: Short, Ben
Publicado: (2012)

ACQUIRED PES CAVUS IN CHARCOT-MARIE-TOOTH DISEASE
por: Maranho, Daniel Augusto, et al.
Publicado: (2015)

Charcot Marie Tooth Disease. A Single Disorder?
por: Fontés, Michel
Publicado: (2018)

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
por: Schiavon, Cara R., et al.
Publicado: (2021)

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies
por: Stavrou, Marina, et al.
Publicado: (2021)

Anaesthetic implications in patient with Charcot-Marie-Tooth disease
por: Kapoor, Hemlata, et al.
Publicado: (2021)

The Current State of Charcot–Marie–Tooth Disease Treatment
por: Okamoto, Yuji, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_k0cdfeke96dbcq672fjcvj3hjc