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Quoted phrase not found in phrase index: "Charcot-Marie-Tooth disease, dominant intermediate G"
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A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report.
San Luis CV, Schwartzlow C, Nozaki K, Ubogu EE. San Luis CV, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221117801. doi: 10.1177/23247096221117801. J Investig Med High Impact Case Rep. 2022. PMID: 35993408 Free PMC article.
Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with …
Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense he …
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ, Nam DE, Choi YJ, Nam SH, Choi BO, Chung KW. Lee AJ, et al. Genes Genomics. 2020 Jun;42(6):663-672. doi: 10.1007/s13258-020-00933-9. Epub 2020 Apr 20. Genes Genomics. 2020. PMID: 32314272
AARS1 mutations are frequently responsible for autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N). OBJECTIVE: To identify pathogenic mutation in the Korean patients with CMT and distal hereditary motor neuronopathy (dHMN). ...The pat …
AARS1 mutations are frequently responsible for autosomal dominant Charcot-Marie-Tooth disease type 2N (CM …
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R. Bansagi B, et al. J Neurol. 2015 Aug;262(8):1899-908. doi: 10.1007/s00415-015-7778-4. Epub 2015 Jun 2. J Neurol. 2015. PMID: 26032230 Free PMC article.
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. ...To date six families have been reported worldwide with dominant missense alanyl-tRNA synthetase (AARS) …
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentati …