Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion-Reference-Cited by-同舟云学术

Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

Published:2016-04 Issue:4-5 Volume:26 Page:316-321
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jouaud Maxime,Gonnaud Pierre-Marie,Richard Laurence,Latour Philippe,Ollagnon-Roman Elisabeth,Sturtz Franck,Mathis Stéphane,Magy Laurent,Vallat Jean-Michel

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy;Funalot;Ann Neurol,2012

2. Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita;Charnas;Neurology,1988

3. Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication;Latour;Clin Chem,2001

4. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies;Lorenzetti;Am J Hum Genet,1995

5. Congenital hypomyelinating neuropathy: two patients with long-term follow-up;Phillips;Pediatr Neurol,1999

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1. Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies;Neuromuscular Disorders;2022-06

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

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

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

5. Maladies de Charcot-Marie-Tooth : discussion des relations génotypes-lésions ultrastructurales du nerf périphérique;Bulletin de l'Académie Nationale de Médecine;2018-01