Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Charcot-Marie-Tooth Disease and GAN[original query] |
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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 |
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 |
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