Late-onset Charcot–Marie–Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene

2013 ◽  
Vol 115 (2) ◽  
pp. 208-209 ◽  
Author(s):  
Shuhei Nishiyama ◽  
Naoto Sugeno ◽  
Maki Tateyama ◽  
Masashi Aoki
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Disulfide Bridge ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1

2001 ◽  
Vol 184 (2) ◽  
pp. 149-153 ◽  
Author(s):  
Tsuyoshi Yoshihara ◽  
Fumio Kanda ◽  
Masahiko Yamamoto ◽  
Hiroyuki Ishihara ◽  
Ken-ichiro Misu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Growth Response ◽  
Late Onset ◽  
Early Growth ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Early Growth Response ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

2006 ◽  
Vol 16 (3) ◽  
pp. 183-187 ◽  
Author(s):  
Gian Maria Fabrizi ◽  
Maria Pellegrini ◽  
Chiara Angiari ◽  
Tiziana Cavallaro ◽  
Alberto Morini ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Novel Mutation ◽  
Disease Type ◽  
Intracellular Domain ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Dosage Sensitivity

scholarly journals A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement

2014 ◽  
Vol 54 (11) ◽  
pp. 911-915 ◽  
Author(s):  
Nobuko Kawakami ◽  
Kenichi Komatsu ◽  
Hirofumi Yamashita ◽  
Kengo Uemura ◽  
Nobuyuki Oka ◽  
...  
Keyword(s):  
Respiratory Muscle ◽  
Novel Mutation ◽  
Trna Synthetase ◽  
Disease Type ◽  
Muscle Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Pressure Palsy as the Initial Presentation in a Case of Late-onset Charcot-Marie-Tooth Disease Type 1A.

1997 ◽  
Vol 36 (7) ◽  
pp. 501-503 ◽  
Author(s):  
Yoshinori ABE ◽  
Tohru IKEGAMI ◽  
Kiyoshi HAYASAKA ◽  
Yoshihiro TANNO ◽  
Takako WATANABE ◽  
...  
Keyword(s):  
Late Onset ◽  
Disease Type ◽  
Initial Presentation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsy ◽  
Tooth Disease

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

2012 ◽  
Vol 259 (8) ◽  
pp. 1585-1589 ◽  
Author(s):  
Maria Marttila ◽  
Bernd Rautenstrauss ◽  
Kathrin Huehne ◽  
Virpi Laitinen ◽  
Kari Majamaa ◽  
...  
Keyword(s):  
Late Onset ◽  
Novel Mutation ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Zero ◽  
Tooth Disease

Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1b

1997 ◽  
Vol 71 (2) ◽  
pp. 246-248 ◽  
Author(s):  
Tohru Ikegami ◽  
Hiroyuki Ikeda ◽  
Tetsuo Mitsui ◽  
Kiyoshi Hayasaka ◽  
Shougo Ishii
Keyword(s):  
Novel Mutation ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Charcot-Marie-Tooth disease type 2G redefined by a novel mutation inLRSAM1

2016 ◽  
Vol 80 (6) ◽  
pp. 823-833 ◽  
Author(s):  
Kristien Peeters ◽  
Paulius Palaima ◽  
Ana L. Pelayo-Negro ◽  
Antonio García ◽  
Elena Gallardo ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2

2013 ◽  
Vol 49 (1) ◽  
pp. 145-146 ◽  
Author(s):  
Giorgia Bergamin ◽  
Chiara Dalla Torre ◽  
Mario Cacciavillani ◽  
Marta Lucchetta ◽  
Francesca Boaretto ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Disease Type ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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