A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolarization in Vitro and Distal Peripheral Nerve Hyperexcitability When Perlecan Is Lacking-Reference-Cited by-同舟云学术

A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolarization in Vitro and Distal Peripheral Nerve Hyperexcitability When Perlecan Is Lacking

Published:2012-05 Issue:5 Volume:180 Page:2040-2055
ISSN:0002-9440
Container-title:The American Journal of Pathology
language:en
Short-container-title:The American Journal of Pathology

Author:

Bangratz Marie,Sarrazin Nadège,Devaux Jérôme,Zambroni Désirée,Echaniz-Laguna Andoni,René Frédérique,Boërio Delphine,Davoine Claire-Sophie,Fontaine Bertrand,Feltri Maria Laura,Benoit Evelyne,Nicole Sophie

Publisher

Elsevier BV

Subject

Pathology and Forensic Medicine

Reference63 articles.

1. Generalized peripheral nerve hyperexcitability (neuromyotonia);Hart,2004

2. Molecular dissection of the myelinated axon;Waxman;Ann Neurol,1993

3. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1;Browne;Nat Genet,1994

4. Primary episodic ataxias: diagnosis, pathogenesis and treatment;Jen;Brain,2007

5. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel;Dedek;Proc Natl Acad Sci U S A,2001

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Muscle channelopathies: A review;Annals of the Child Neurology Society;2023-10-10

2. Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles;Biomedicines;2023-03-07

3. Perlecan, A Multi-Functional, Cell-Instructive, Matrix-Stabilizing Proteoglycan With Roles in Tissue Development Has Relevance to Connective Tissue Repair and Regeneration;Frontiers in Cell and Developmental Biology;2022-04-01

4. Diversity of satellite glia in sympathetic and sensory ganglia;Cell Reports;2022-02

5. Diversity of satellite glia in sympathetic and sensory ganglia;2021-05-25