|Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy|
A Saada, A Shaag, H Mandel, Y Nevo, S Eriksson, O Elpeleg
Nature genetics 29 (3), 342-344, 2001
|The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA|
H Mandel, R Szargel, V Labay, O Elpeleg, A Saada, A Shalata, ...
Nature genetics 29 (3), 337-341, 2001
|Deleterious mutation in the mitochondrial arginyl–transfer RNA synthetase gene is associated with pontocerebellar hypoplasia|
S Edvardson, A Shaag, O Kolesnikova, JM Gomori, I Tarassov, ...
The American Journal of Human Genetics 81 (4), 857-862, 2007
|Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion|
O Elpeleg, C Miller, E Hershkovitz, M Bitner-Glindzicz, ...
The American Journal of Human Genetics 76 (6), 1081-1086, 2005
|A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism|
S Edvardson, Y Cinnamon, A Ta-Shma, A Shaag, YI Yim, S Zenvirt, ...
PloS one 7 (5), e36458, 2012
|Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit|
L van den Heuvel, W Ruitenbeek, R Smeets, Z Gelman-Kohan, O Elpeleg, ...
The American Journal of Human Genetics 62 (2), 262-268, 1998
|A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins|
A Navarro-Sastre, F Tort, O Stehling, MA Uzarska, JA Arranz, M Del Toro, ...
The American Journal of Human Genetics 89 (5), 656-667, 2011
|Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation|
C Miller, A Saada, N Shaul, N Shabtai, E Ben‐Shalom, A Shaag, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
|Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood|
A Zeharia, A Shaag, RH Houtkooper, T Hindi, P de Lonlay, G Erez, ...
The American Journal of Human Genetics 83 (4), 489-494, 2008
|Acute infantile liver failure due to mutations in the TRMU gene|
A Zeharia, A Shaag, O Pappo, AM Mager-Heckel, A Saada, M Beinat, ...
The American Journal of Human Genetics 85 (3), 401-407, 2009
|Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy|
J Loeffen, O Elpeleg, J Smeitink, R Smeets, S Stöckler‐Ipsiroglu, ...
Annals of Neurology: Official Journal of the American Neurological …, 2001
|Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews|
Y Anikster, R Kleta, A Shaag, WA Gahl, O Elpeleg
The American Journal of Human Genetics 69 (6), 1218-1224, 2001
|Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia|
S Edvardson, H Hama, A Shaag, JM Gomori, I Berger, D Soffer, ...
The American Journal of Human Genetics 83 (5), 643-648, 2008
|Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis|
Y Erlich, S Edvardson, E Hodges, S Zenvirt, P Thekkat, A Shaag, T Dor, ...
Genome research 21 (5), 658-664, 2011
|Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome|
R Belostotsky, E Ben-Shalom, C Rinat, R Becker-Cohen, S Feinstein, ...
The American Journal of Human Genetics 88 (2), 193-200, 2011
|Glutaryl‐CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations|
SI Goodman, DE Stein, S Schlesinger, E Christensen, M Schwartz, ...
Human mutation 12 (3), 141-144, 1998
|Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs|
JAM Smeitink, O Elpeleg, H Antonicka, H Diepstra, A Saada, P Smits, ...
The American Journal of Human Genetics 79 (5), 869-877, 2006
|C6ORF66 is an assembly factor of mitochondrial complex I|
A Saada, S Edvardson, M Rapoport, A Shaag, K Amry, C Miller, ...
The American Journal of Human Genetics 82 (1), 32-38, 2008
|The H syndrome is caused by mutations in the nucleoside transporter hENT3|
V Molho-Pessach, I Lerer, D Abeliovich, Z Agha, AA Libdeh, V Broshtilova, ...
The American Journal of Human Genetics 83 (4), 529-534, 2008
|Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects|
P Stepensky, B Keller, M Buchta, AK Kienzler, O Elpeleg, R Somech, ...
Journal of allergy and clinical immunology 131 (2), 477-485. e1, 2013