Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation-Reference-Cited by-同舟云学术

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Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

Published:2011-03 Issue:3 Volume:21 Page:223-226
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Murphy Sinéad M.,Laurá Matilde,Blake Julian,Polke James,Bremner Fion,Reilly Mary M.

Funder

Medical Research Council (MRC)

Muscular Dystrophy Campaign

NINDS/ORD

Department of Health’s National Institute for Health Research Biomedical Research Centres

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference27 articles.

1. 3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28–30 November 1997, Naarden, The Netherlands;Haites;Neuromuscul Disord,1998

2. Sorting out the inherited neuropathies;Reilly;Pract Neurol,2007

3. Phenotypic clustering in MPZ mutations;Shy;Brain,2004

4. Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal;Lewis;Ann NY Acad Sci,1999

5. GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment;Michell;J Neurol Neurosurg Psychiatry,2009

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1. Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology;Journal of the Peripheral Nervous System;2024-04-10

2. Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort;Brain Pathology;2023-08-15

3. Structural context of homomeric interactions in the lg domain of the MPZ (P0) myelin adhesion protein and relation to Charcot-Marie-Tooth disease phenotype variants;2023-03-19

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5. Mechanisms and Treatments in Demyelinating CMT;Neurotherapeutics;2021-10

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