Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy

2012 ◽  
Vol 34 (6) ◽  
pp. 653-661 ◽  
Author(s):  
Khriezhanuo Nakhro ◽  
Ye Jin Kim ◽  
Ja Hyun Lee ◽  
Heasoo Koo ◽  
Byung-Ok Choi ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Disease Type ◽  
De Novo Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0133423 ◽  
Author(s):  
Yi-Chu Liao ◽  
Yo-Tsen Liu ◽  
Pei-Chien Tsai ◽  
Chia-Ching Chang ◽  
Yen-Hua Huang ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A

2018 ◽  
Vol 57 (5) ◽  
pp. E126-E128
Author(s):  
Brett A. McCray ◽  
William Hurst ◽  
Thomas O. Crawford ◽  
Thomas E. Lloyd
Keyword(s):  
Early Onset ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1993 ◽  
Vol 2 (12) ◽  
pp. 2031-2035 ◽  
Author(s):  
Francisco Palau ◽  
Ann Löfgren ◽  
Peter De Jonghe ◽  
Sylvia Bort ◽  
Eva Nelis ◽  
...  
Keyword(s):  
De Novo ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

De novo mutation of Charcot-Marie-Tooth disease type IA

1997 ◽  
Vol 17 (1) ◽  
pp. 67-69
Author(s):  
Nobutada Tachi ◽  
Naoki Kozuka ◽  
Kazuhiro Ohya ◽  
Shunzo Chiba
Keyword(s):  
De Novo ◽  
Disease Type ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Type Ia ◽  
Tooth Disease

Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication

2008 ◽  
Vol 46 (4) ◽  
pp. 291-294 ◽  
Author(s):  
Jens Michael Hertz ◽  
Anders D. Børglum ◽  
Carsten A. Brandt ◽  
Tracey Flint ◽  
Carsten Bisgaard
Keyword(s):  
De Novo ◽  
Disease Type ◽  
Parental Origin ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B

Brain ◽  
2012 ◽  
Vol 135 (7) ◽  
pp. 2032-2047 ◽  
Author(s):  
Mario A. C. Saporta ◽  
Brian R. Shy ◽  
Agnes Patzko ◽  
Yunhong Bai ◽  
Maria Pennuto ◽  
...  
Keyword(s):  
Schwann Cell ◽  
Mouse Model ◽  
Early Onset ◽  
Cell Development ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Schwann Cell Development ◽  
Tooth Disease
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