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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 5, 2023. (Total: 217663Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Charcot-Marie-Tooth Disease and SPG11[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
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Human mutation 2016 Apr .
Günther Sven, Elert-Dobkowska Ewelina, Soehn Anne S, Hinreiner Sophie, Yoon Grace, Heller Raoul, Hellenbroich Yorck, Hübner Christian A, Ray Peter N, Hehr Ute, Bauer Peter, Sulek Anna, Beetz Christi
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