Cargando…

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited disorders affecting the peripheral nervous system, with a prevalence of 1/2500. So far, mutations in more than 80 genes have been identified causing either demyelinating forms (CMT1) or axonal forms (CMT2). Consequentially, the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Miressi, Federica, Magdelaine, Corinne, Cintas, Pascal, Bourthoumieux, Sylvie, Nizou, Angélique, Derouault, Paco, Favreau, Frédéric, Sturtz, Franck, Faye, Pierre-Antoine, Lia, Anne-Sophie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765239/ https://www.ncbi.nlm.nih.gov/pubmed/33333791 http://dx.doi.org/10.3390/brainsci10120986

Ejemplares similares

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software
por: Pyromali, Ioanna, et al.
Publicado: (2021)

A mutation can hide another one: Think Structural Variants!
por: Miressi, Federica, 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)

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients
por: Lafontaine, Maxime, et al.
Publicado: (2021)

Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients
por: Faye, Pierre-Antoine, et al.
Publicado: (2020)

Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot–Marie–Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene
por: Benslimane, Nesrine, et al.
Publicado: (2023)

Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay
por: Baaj, Yasser, et al.
Publicado: (2009)

CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer
por: Derouault, Paco, et al.
Publicado: (2020)

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy
por: Pyromali, Ioanna, et al.
Publicado: (2023)

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
por: Pyromali, Ioanna, et al.
Publicado: (2022)

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease
por: Pedroso, José Luiz, et al.
Publicado: (2015)

Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype
por: Thongsing, Apirada, et al.
Publicado: (2019)

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

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
por: Lerat, Justine, et al.
Publicado: (2019)

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 compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease
por: Hong, Young Bin, et al.
Publicado: (2013)

Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy
por: Sames, Lori, et al.
Publicado: (2014)

Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot–Marie–Tooth Disease
por: Benoy, Veronick, et al.
Publicado: (2016)

Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease
por: Bellofatto, Marta, et al.
Publicado: (2022)

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)

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease
por: Bellofatto, Marta, et al.
Publicado: (2023)

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
por: Engeholm, Maik, et al.
Publicado: (2014)

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
por: Auranen, Mari, et al.
Publicado: (2015)

TFG mutation induces haploinsufficiency and drives axonal Charcot–Marie–Tooth disease by causing neurite degeneration
por: Chen, Xihui, et al.
Publicado: (2022)

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)

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
por: Benquey, Thibaut, et al.
Publicado: (2022)

Focus on 1,25-Dihydroxyvitamin D3 in the Peripheral Nervous System
por: Faye, Pierre Antoine, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_3o9nqrtd04phkq6q97c7oomkvc