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Items: 4

Select item 88308121.

Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease

Hye Jin Kim, Sang Beom Kim, Hyun Su Kim, Hye Mi Kwon, Jae Hong Park, Ah Jin Lee, Si On Lim, Soo Hyun Nam, Young Bin Hong, Ki Wha Chung, Byung‐Ok Choi

Mol Genet Genomic Med. 2022 Feb; 10(2): e1870. Published online 2022 Jan 19. doi: 10.1002/mgg3.1870

PMCID:: PMC8830812

Abstract Article PDF–1.3M

Select item 68594112.

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

RITA MACHADO, JORGE PINTO-BASTO, LUÍS NEGRÃO

Acta Myol. 2019 Sep; 38(3): 180–183. Published online 2019 Sep 1.

PMCID:: PMC6859411

Abstract Article PDF–242K

Select item 45393603.

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

Boglarka Bansagi, Thalia Antoniadi, Sarah Burton-Jones, Sinead M. Murphy, John McHugh, Michael Alexander, Richard Wells, Joanna Davies, David Hilton-Jones, Hanns Lochmüller, Patrick Chinnery, Rita Horvath

J Neurol. 2015; 262(8): 1899–1908. Published online 2015 Jun 2. doi: 10.1007/s00415-015-7778-4

PMCID:: PMC4539360

Abstract Article PDF–1.0M

Select item 35918444.

Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

Bing-Wen Soong, Yen-Hua Huang, Pei-Chien Tsai, Chien-Chang Huang, Hung-Chuan Pan, Yi-Chun Lu, Hsin-Ju Chien, Tze-Tze Liu, Ming-Hong Chang, Kon-Ping Lin, Pang-Hsien Tu, Lung-Sen Kao, Yi-Chung Lee

Am J Hum Genet. 2013 Mar 7; 92(3): 422–430. doi: 10.1016/j.ajhg.2013.01.014