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Items: 4

1.
Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations
Hye Jin Kim, Soo Hyun Nam, Hye Mi Kwon, Si On Lim, Jae Hong Park, Hyun Su Kim, Sang Beom Kim, Kyung Suk Lee, Ji Eun Lee, Byung‐Ok Choi, Ki Wha Chung
Mol Genet Genomic Med. 2021 Jun; 9(6): e1678. Published online 2021 Apr 6. doi: 10.1002/mgg3.1678
PMCID:
PMC8222852
AbstractArticlePDF–1.3M
2.
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease
Christopher P Ptak, Tabitha A Peterson, Jesse B Hopkins, Christopher A Ahern, Michael E Shy, Robert C Piper
Brain. 2023 Dec; 146(12): 5110–5123. Published online 2023 Aug 5. doi: 10.1093/brain/awad258
PMCID:
PMC10690024
AbstractArticlePDF–1.3M
3.
Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI)
Chiara Pisciotta, Emma Ciafaloni, Riccardo Zuccarino, Daniela Calabrese, Paola Saveri, Silvia Fenu, Irene Tramacere, Filippo Genovese, Nuran Dilek, Nicholas E. Johnson, Chad Heatwole, David N. Herrmann, Davide Pareyson
J Peripher Nerv Syst. Author manuscript; available in PMC 2020 Oct 1.
Published in final edited form as: J Peripher Nerv Syst. 2020 Sep; 25(3): 292–296. Published online 2020 Jun 24. doi: 10.1111/jns.12397
PMCID:
PMC7484132
AbstractArticlePDF–506K
4.
A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Front Aging Neurosci. 2016; 8: 222. Published online 2016 Sep 22. doi: 10.3389/fnagi.2016.00222
PMCID:
PMC5054897
AbstractArticlePDF–613K

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