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Metabolic Brain Disease|January 20, 2021
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairmentYoav Zehavi, Ann Saada, Haneen Jabaly-Habib, et al.
Human Mutation|December 26, 2001
Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type IOrly N Elpeleg, Avraham Shaag, Elizabeth Holme, et al.
Annals of Neurology|April 24, 2012
Hereditary sensory autonomic neuropathy caused by a mutation in dystoninSimon Edvardson, Yuval Cinnamon, Chaim Jalas, et al.
Molecular Genetics and Metabolism|January 9, 2008
The unique neuroradiology of complex I deficiency due to NDUFA12L defectFlora Barghuti, Khaled Elian, John Moshe Gomori, et al.
American Journal of Medical Genetics. Part A|March 19, 2016
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and functionRuth Sheffer, Liza Douiev, Simon Edvardson, et al.
Journal of Inherited Metabolic Disease|May 25, 2011
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Ann Saada, Shimon Edvardson, Avraham Shaag, et al.
Annals of Neurology|October 27, 2004
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutationChaya Miller, Ann Saada, Nava Shaul, et al.
American Journal of Human Genetics|March 10, 2009
Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 geneEyal Shteyer, Ann Saada, Avraham Shaag, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|April 2, 2009
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibsKaren Meir, Yakov Fellig, Vardiella Meiner, et al.
American Journal of Human Genetics|September 12, 2007
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaSimon Edvardson, Avraham Shaag, Olga Kolesnikova, et al.
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