Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C

2016 ◽  
Vol 58 (11) ◽  
pp. 1252-1254 ◽  
Author(s):  
Kazushi Ichikawa ◽  
Keita Numasawa ◽  
Saoko Takeshita ◽  
Akihiro Hashiguchi ◽  
Hiroshi Takashima
Keyword(s):  
Disease Type ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot-marie-tooth disease type 1: novel cases and novel mutations detected by DHPLC

2004 ◽  
Vol 9 (2) ◽  
pp. 122-122
Author(s):  
C Angiari ◽  
M Ferrarini ◽  
F Taioli ◽  
T Cavallaro ◽  
GM Fabrizi ◽  
...  
Keyword(s):  
Disease Type ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

2017 ◽  
Vol 57 (5) ◽  
pp. 749-755 ◽  
Author(s):  
Nivedita U. Jerath ◽  
Ami Mankodi ◽  
Thomas O. Crawford ◽  
Christopher Grunseich ◽  
Hasna Baloui ◽  
...  
Keyword(s):  
Disease Type ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Clinical Presentations ◽  
Tooth Disease

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

2019 ◽  
Vol 402 ◽  
pp. 156-161
Author(s):  
Herminia Argente-Escrig ◽  
Ana Sánchez-Monteagudo ◽  
Marina Frasquet ◽  
Elvira Millet-Sancho ◽  
Maria Dolores Martínez-Rubio ◽  
...  
Keyword(s):  
Disease Type ◽  
Novel Mutations ◽  
Mild Phenotype ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families

1996 ◽  
Vol 8 (3) ◽  
pp. 270-272 ◽  
Author(s):  
Takeo Yoshimura ◽  
Akio Ohnishi ◽  
Tatsunori Yamamoto ◽  
Yoshimitsu Fukushima ◽  
Mitsuhiro Kitani ◽  
...  
Keyword(s):  
Disease Type ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Suzan Boutary ◽  
Marie Caillaud ◽  
Mévidette El Madani ◽  
Jean-Michel Vallat ◽  
Julien Loisel-Duwattez ◽  
...  
Keyword(s):  
Mouse Models ◽  
Disease Type ◽  
Major Step ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Levels ◽  
Positive Effects ◽  
Severity Of The Disease ◽  
Tooth Disease

AbstractCharcot-Marie-Tooth disease type 1 A (CMT1A) lacks an effective treatment. We provide a therapy for CMT1A, based on siRNA conjugated to squalene nanoparticles (siRNA PMP22-SQ NPs). Their administration resulted in normalization of Pmp22 protein levels, restored locomotor activity and electrophysiological parameters in two transgenic CMT1A mouse models with different severity of the disease. Pathological studies demonstrated the regeneration of myelinated axons and myelin compaction, one major step in restoring function of myelin sheaths. The normalization of sciatic nerve Krox20, Sox10 and neurofilament levels reflected the regeneration of both myelin and axons. Importantly, the positive effects of siRNA PMP22-SQ NPs lasted for three weeks, and their renewed administration resulted in full functional recovery. Beyond CMT1A, our findings can be considered as a potent therapeutic strategy for inherited peripheral neuropathies. They provide the proof of concept for a new precision medicine based on the normalization of disease gene expression by siRNA.

Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A

2010 ◽  
Vol 42 (2) ◽  
pp. 262-267 ◽  
Author(s):  
Joshua Burns ◽  
Adam Scheinberg ◽  
Monique M. Ryan ◽  
Kristy J. Rose ◽  
Robert A. Ouvrier
Keyword(s):  
Botulinum Toxin ◽  
Randomized Trial ◽  
Disease Type ◽  
Pes Cavus ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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