Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22-Reference-Cited by-同舟云学术

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Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

Published:1999-06 Issue:4 Volume:9 Page:257-261
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Simonati A,Fabrizi G.M,Pasquinelli A,Taioli F,Cavallaro T,Morbin M,Marcon G,Papini M,Rizzuto N

Publisher

Elsevier BV

Subject

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

Reference9 articles.

1. The status of HMSN type III;Gabreëls-Festen;Neuromusc Disord,1994

2. Charcot-Marie-Tooth disease and related peripheral neuropathies;De Jonghe;J Periph Nerv Syst,1997

3. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type1B, Dejerine–Sottas, and congenital hypomyelination;Warner;Neuron,1996

4. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies;Warner;Nat Genet,1998

5. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene;Roa;N Engl J Med,1993

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1. A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant;Revue Neurologique;2023-10

2. Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients;Genes;2022-07-08

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

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

5. Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP;Journal of the Neurological Sciences;2019-03

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