Cargando…

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease

Detalles Bibliográficos
Autores principales:	Pedroso, José Luiz, Rocha, Clarissa R.R., Macedo-Souza, Lucia I., De Mario, Vitor, Marques, Wilson, Barsottini, Orlando G.P., Bulle Oliveira, Acary S., Menck, Carlos F.M., Kok, Fernando
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2015
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811384/ https://www.ncbi.nlm.nih.gov/pubmed/27066567 http://dx.doi.org/10.1212/NXG.0000000000000030

Ejemplares similares

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease
por: Montecchiani, Celeste, et al.
Publicado: (2016)

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

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)

The Charcot-Marie-Tooth diseases: how can we identify and develop novel therapeutic targets?
por: Roberts, Rhys C.
Publicado: (2012)

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

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
por: Kazamel, Mohamed, et al.
Publicado: (2020)

Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations
por: Müller, Juliane S, et al.
Publicado: (2021)

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

Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
por: Nicholson, Patrick D., et al.
Publicado: (2017)

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
por: Stergachis, Andrew B., et al.
Publicado: (2023)

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)

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form
por: Miressi, Federica, et al.
Publicado: (2020)

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

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)

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)

Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish
por: Chapman, Anna L., et al.
Publicado: (2013)

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease
por: Liao, Yi-Chu, et al.
Publicado: (2015)

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy
por: Mo, Zhongying, et al.
Publicado: (2018)

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_op28bmn0krf2f9kvi77jrhr5dn