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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 12, 2025. (Total: 235195Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Amyotrophic Lateral Sclerosis and GDAP1[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
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
European journal of neurology 2020 4 27 (7): 1319-1326.
Liu X, Duan X, Zhang Y, Sun A, Fan
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Frontiers in genetics 2021 8 12 682050.
Ferese Rosangela, Campopiano Rosa, Scala Simona, D'Alessio Carmelo, Storto Marianna, Buttari Fabio, Centonze Diego, Logroscino Giancarlo, Zecca Chiara, Zampatti Stefania, Fornai Francesco, Cianci Vittoria, Manfroi Elisabetta, Giardina Emiliano, Magnani Mauro, Suppa Antonio, Novelli Giuseppe, Gambardella Stefa
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