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Molecular Genetics and Metabolism|May 27, 2003
mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiencyAnn Saada, Avraham Shaag, Orly ElpelegNeurogenetics|April 29, 2016
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathyRonen Spiegel, Avraham Shaag, Stavit Shalev, et al.Neurology. Genetics|April 29, 2016
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilitiesFadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, et al.Annals of Neurology|November 26, 2002
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathyOrly Elpeleg, Avraham Shaag, Efrat Ben-Shalom, et al.JIMD Reports|August 20, 2016
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase DeficiencyRonen Spiegel, Devorah Soiferman, Avraham Shaag, et al.European Journal of Medical Genetics|September 2, 2023
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family geneticsSigal Matza Porges, Hagar Mor-Shaked, Avraham Shaag, et al.Annals of Neurology|February 29, 2008
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutationItai Berger, Eli Hershkovitz, Avraham Shaag, et al.Journal of Medical Genetics|July 24, 2014
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephalyDavid Gillis, Aiswarya Krishnamohan, Barak Yaacov, et al.American Journal of Medical Genetics. Part A|July 8, 2017
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephalyTamar Harel, Nuphar Hacohen, Avraham Shaag, et al.Epilepsia|June 14, 2012
Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 geneItai Berger, Talya Dor, Jonatan Halvardson, et al.Pageof 10