Cargando…

A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene

Detalles Bibliográficos
Autores principales:	Choi, Ko-Eun, Yim, Jisook, Kim, Myungshin, Lee, Jung Hwan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2022
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8926773/ https://www.ncbi.nlm.nih.gov/pubmed/35274844 http://dx.doi.org/10.3988/jcn.2022.18.2.244

Ejemplares similares

Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease
por: Kim, Hye Jin, et al.
Publicado: (2022)

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
por: Sainio, Markus T., et al.
Publicado: (2018)

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease
por: MACHADO, RITA, et al.
Publicado: (2019)

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C
por: Skott, Humberto, et al.
Publicado: (2019)

Mutation of SIMPLE in Charcot–Marie–Tooth 1C alters production of exosomes
por: Zhu, Hong, et al.
Publicado: (2013)

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

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease
por: Li, Li-Xi, et al.
Publicado: (2017)

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

Vitamin C and Charcot–Marie–Tooth 1A: Pharmacokinetic considerations
por: Visioli, F., et al.
Publicado: (2013)

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)

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

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy
por: Schiza, Natasa, et al.
Publicado: (2019)

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

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)

Clinical and Neuroimaging Features in Charcot–Marie–Tooth Patients with GNB4 Mutations
por: Kwon, Hye Mi, et al.
Publicado: (2021)

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

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease
por: Rönkkö, Julius, et al.
Publicado: (2020)

Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
por: Kanwal, Sumaira, et al.
Publicado: (2021)

A Rare Case of Charcot-Marie-Tooth Disease Type 1C With an Unusual Presentation
por: Khosa, Shaweta, et al.
Publicado: (2020)

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome
por: Braathen, Geir J, et al.
Publicado: (2010)

A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot‐Marie‐Tooth disease 2
por: Wu, Ding‐Wen, et al.
Publicado: (2020)

Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease
por: Hwang, Sun Hee, et al.
Publicado: (2021)

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)

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

Cannot write session to /tmp/vufind_sessions/sess_ni2qsp2mrlrs9jnhjofgv4lrab