Cargando…

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders affecting the peripheral nervous system. CMT is characterized by a clinically and genetically heterogeneous group of neuropathies, involving all types of Mendelian inheritance patterns. Over 1,000 different mutations have...

Descripción completa

Detalles Bibliográficos
Autores principales:	Timmerman, Vincent, Strickland, Alleene V., Züchner, Stephan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2014
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978509/ https://www.ncbi.nlm.nih.gov/pubmed/24705285 http://dx.doi.org/10.3390/genes5010013

Ejemplares similares

Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine
por: Jariwal, Roopam, et al.
Publicado: (2018)

Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany
por: Rudnik‐Schöneborn, S., et al.
Publicado: (2020)

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry
por: Bellofatto, Marta, et al.
Publicado: (2022)

Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J
por: Lenk, Guy M., et al.
Publicado: (2011)

Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT
por: Prada, Valeria, et al.
Publicado: (2021)

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
por: Østern, Rune, et al.
Publicado: (2013)

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
por: Juneja, Manisha, et al.
Publicado: (2019)

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
por: Pareyson, Davide, et al.
Publicado: (2011)

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
por: Eichinger, Katy, et al.
Publicado: (2022)

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

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

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
por: Braathen, Geir J, et al.
Publicado: (2010)

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)

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)

Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease
por: Verma, Ashok
Publicado: (2014)

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
por: Leal, Alejandro, et al.
Publicado: (2018)

Charcot–Marie–Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments
por: Holmgren, Anne, et al.
Publicado: (2013)

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)

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)

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients
por: Wang, Wenjia, et al.
Publicado: (2017)

Increased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy
por: Almeida-Souza, Leonardo, et al.
Publicado: (2010)

The Expanding Genetic Landscape of Charcot-Marie-Tooth Diseases (CMTs): An Indian Perspective
por: Sanghani, Nirav
Publicado: (2022)

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
por: Jennings, Matthew J, et al.
Publicado: (2022)

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
por: Record, Christopher J, et al.
Publicado: (2023)

Evolution of foot manifestations in children with Charcot-Marie-Tooth disease
por: Burns, Joshua, et al.
Publicado: (2008)

Defective α-tubulin acetylation in models of Charcot-Marie-Tooth
Publicado: (2011)

Correlates of calf cramp in children with Charcot-Marie-Tooth disease
por: Blyton, Fiona E, et al.
Publicado: (2012)

Hand weakness in Charcot-Marie-Tooth disease 1X
por: Arthur-Farraj, P.J., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_48orbks8akotrtia20ng6pth64