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

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

Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2

2015 ◽  
Vol 74 (5-6) ◽  
pp. 310-314 ◽  
Author(s):  
Catarina Andrade Garcez ◽  
Eduardo Luis Aquino Neves ◽  
Saulo Maia D''avila Melo ◽  
Paula Santos Nunes ◽  
Lidiane Carine Lima Barreto ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Pulmonary Function ◽  
Respiratory Muscle ◽  
Disease Type ◽  
Respiratory Muscle Strength ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

2003 ◽  
Vol 72 (5) ◽  
pp. 1293-1299 ◽  
Author(s):  
Anthony Antonellis ◽  
Rachel E. Ellsworth ◽  
Nyamkhishig Sambuughin ◽  
Imke Puls ◽  
Annette Abel ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type V ◽  
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 A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

2014 ◽  
Vol 35 (4) ◽  
pp. 512-512 ◽  
Author(s):  
Heather M. McLaughlin ◽  
Reiko Sakaguchi ◽  
William Giblin ◽  
Thomas E. Wilson ◽  
Leslie Biesecker ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Disease Type ◽  
Loss Of Function ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

2011 ◽  
Vol 33 (1) ◽  
pp. 244-253 ◽  
Author(s):  
Heather M. McLaughlin ◽  
Reiko Sakaguchi ◽  
William Giblin ◽  
Thomas E. Wilson ◽  
Leslie Biesecker ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Disease Type ◽  
Loss Of Function ◽  
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
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