Genotype and phenotype distribution of 435 patients with Charcot‐Marie‐Tooth disease from Central South China

2021 ◽  
Author(s):  
Yongzhi Xie ◽  
Zhiqiang Lin ◽  
Lei Liu ◽  
Xiaobo Li ◽  
Shunxiang Huang ◽  
...  
Keyword(s):  
South China ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Phenotype Distribution ◽  
Central South ◽  
Tooth Disease

Ascorbic acid in pediatric and adolescent Charcot- Marie- Tooth Disease 1A – A placebo-controlled, double-blind trial in progress

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
O Schwartz ◽  
B Fiedler ◽  
M Schilling ◽  
P Young ◽  
G Kuhlenbäumer ◽  
...  
Keyword(s):  
Ascorbic Acid ◽  
Double Blind Trial ◽  
Double Blind ◽  
Charcot Marie Tooth ◽  
Blind Trial ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes

2014 ◽  
Vol 14 (8) ◽  
pp. 1009-1033 ◽  
Author(s):  
D. Pareyson ◽  
P. Saveri ◽  
G. Piscosquito
Keyword(s):  
Gene Function ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Hereditary Neuropathies ◽  
Tooth Disease

MUTATIONS IN CONNEXIN 32: THE MOLECULAR AND BIOPHYSICAL BASES FOR THE X-LINKED FORM OF CHARCOT-MARIE-TOOTH DISEASE

2000 ◽  
Vol 5 (4) ◽  
pp. 246-247
Author(s):  
Ck Abrams ◽  
S Oh ◽  
Y Ri ◽  
Ta Bargiello
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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