Congenital hypomyelinating neuropathy due to a novel MPZ mutation-Reference-Cited by-同舟云学术

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Congenital hypomyelinating neuropathy due to a novel MPZ mutation

Published:2011-12 Issue:4 Volume:16 Page:347-352
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:

Author:

Sevilla Teresa,Lupo Vincenzo,Sivera Rafael,Marco-Marín Clara,Martínez-Rubio Dolores,Rivas Eloy,Hernández Arturo,Palau Francesc,Espinós Carmen

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1529-8027.2011.00369.x/fullpdf

Reference23 articles.

1. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.;De Jonghe;Brain,1999

2. Coot: model-building tools for molecular graphics.;Emsley;Acta Crystallogr D Biol Crystallogr,2004

3. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.;Espinos;J Med Genet,2009

4. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.;Grandis;Hum Mol Genet,2008

5. Transcriptional and translational control in the mammalian unfolded protein response.;Harding;Annu Rev Cell Dev Biol,2002

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1. Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease;Neurología (English Edition);2024-03

2. New evidence for secondary axonal degeneration in demyelinating neuropathies;Neuroscience Letters;2021-01

3. CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review;Case Reports in Medicine;2020-04-13

4. Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant;International Journal of Pediatric Otorhinolaryngology;2020-04

5. Homozygous splice‐site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy;Neuropathology;2019-11-27

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