scholarly journals A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

2019 ◽  
Vol 6 (3) ◽  
pp. 333-339
Author(s):  
Meredith K. Gillespie ◽  
Hugh J. McMillan ◽  
Kristin D. Kernohan ◽  
Izabella A. Pena ◽  
Rebecca Meyer-Schuman ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot–Marie–Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yafeng Li ◽  
Tomas S. Aleman ◽  
Colin C. Quinn ◽  
Tian Xia ◽  
Charles G. Miller ◽  
...  
Keyword(s):  
Vision Loss ◽  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
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

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease

2018 ◽  
Vol 23 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Guohua Zhao ◽  
Jie Song ◽  
Mi Yang ◽  
Xiuhua Song ◽  
Xiaomin Liu
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

BMC Neurology ◽  
2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Maik Engeholm ◽  
Julia Sekler ◽  
David C Schöndorf ◽  
Vineet Arora ◽  
Jens Schittenhelm ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Dominant Inheritance ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

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

X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in theGJB1 (connexin 32) gene

2005 ◽  
Vol 31 (2) ◽  
pp. 252-255 ◽  
Author(s):  
Petr Vondracek ◽  
Pavel Seeman ◽  
Marketa Hermanova ◽  
Lenka Fajkusova
Keyword(s):  
Novel Mutation ◽  
Phenotypic Expression ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
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
Sign in / Sign up

Export Citation Format

Share Document