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Human Mutation|July 26, 2011
Functional consequences and structural interpretation of mutations of human choline acetyltransferaseXin-Ming Shen, Thomas O Crawford, Joan Brengman, et al.Annals of Neurology|June 27, 2013
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1Johanna Nilsson, Benedikt Schoser, Pascal Laforet, et al.The Lancet. Neurology|February 10, 2015
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing studyManabu Funayama, Kenji Ohe, Taku Amo, et al.BMC Genomics|April 17, 2013
Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genesKumpei Tanisawa, Eri Mikami, Noriyuki Fuku, et al.Annals of Neurology|October 3, 2014
A new muscle glycogen storage disease associated with glycogenin-1 deficiencyEdoardo Malfatti, Johanna Nilsson, Carola Hedberg-Oldfors, et al.Journal of Child Neurology|May 4, 2017
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical InsightsUluç Yiş, Kerstin Becker, Semra Hız Kurul, et al.Neuromuscular Disorders : NMD|December 28, 2016
Congenital myasthenic syndrome in Israel: Genetic and clinical characterizationSharon Aharoni, Menachem Sadeh, Yehuda Shapira, et al.Cell|March 7, 2020
Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled RepairYuka Nakazawa, Yuichiro Hara, Yasuyoshi Oka, et al.Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.Translational Psychiatry|January 11, 2018
Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibilityYanjie Yu, Yingni Lin, Yuto Takasaki, et al.Pageof 31