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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 30, 2023. (Total: 217422Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Charcot-Marie-Tooth Disease and LRSAM1[original query]
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2015 Nov .
Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017 Mar .
Lorena Lorefice, Rita Murru M, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu, Jessica Frau, Stefania Tranquilli, Paolo Tacconi, Alessandro Vannelli, Giovanni Marrosu, Elena Mamusa, Eleonora Cocco, Giovanna Marrosu
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Journal of human genetics 2019 12 65 (3): 313-323.
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard A G, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes J P, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot
[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua nei ke za zhi 2022 8 61 (8): 901-907.
Sun B, He Z Q, Wang H F, Li Y R, Yang F, Cui F, Chen Z H, Huang X
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