Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes

2011 ◽  
Vol 21 (8) ◽  
pp. 543-550 ◽  
Author(s):  
Sonia Nouioua ◽  
Tarik Hamadouche ◽  
Benoit Funalot ◽  
Rafaëlle Bernard ◽  
Nora Bellatache ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Disease Phenotypes ◽  
Tooth Disease

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

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations

2006 ◽  
Vol 11 (2) ◽  
pp. 148-155 ◽  
Author(s):  
Philippe Latour ◽  
Pierre-Marie Gonnaud ◽  
Elisabeth Ollagnon ◽  
Victor Chan ◽  
Serge Perelman ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients

2016 ◽  
Vol 26 (10) ◽  
pp. 706-711 ◽  
Author(s):  
Gyorgy Mate Milley ◽  
Edina Timea Varga ◽  
Zoltan Grosz ◽  
Benjamin Bereznai ◽  
Zsuzsanna Aranyi ◽  
...  
Keyword(s):  
Gap Junction ◽  
Genetic Epidemiology ◽  
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

scholarly journals Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

2002 ◽  
Vol 21 (1) ◽  
pp. 100-100 ◽  
Author(s):  
Kathrin Huehne ◽  
Vladimir Benes ◽  
Christian Thiel ◽  
Cornelia Kraus ◽  
Wolfram Kress ◽  
...  
Keyword(s):  
Disease Genes ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
Sign in / Sign up

Export Citation Format

Share Document