1 - 25 of 49 results for author:"Elpeleg O." in Literature citations
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| Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene. Berger I., Dor T., Halvardson J., Edvardson S., Shaag A., Feuk L., Elpeleg O. Epilepsia 53:1436-1440(2012) · Mapped (5) |
| A human laterality disorder associated with recessive CCDC11 mutation. Perles Z., Cinnamon Y., Ta-Shma A., Shaag A., Einbinder T., Rein A.J., Elpeleg O. J. Med. Genet. 49:386-390(2012) · UniProtKB (1) |
| A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. Edvardson S., Cinnamon Y., Ta-Shma A., Shaag A., Yim Y.I., Zenvirt S., Jalas C., Lesage S., Brice A., Taraboulos A. et al. PLoS ONE 7:e36458-e36458(2012) · Mapped (1) |
| Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Edvardson S., Cinnamon Y., Jalas C., Shaag A., Maayan C., Axelrod F.B., Elpeleg O. Ann. Neurol. 71:569-572(2012) · UniProtKB (1) |
| Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. Huppke P., Brendel C., Korenke G.C., Marquardt I., Donsante A., Yi L., Hicks J.D., Steinbach P.J., Wilson C., Elpeleg O. et al. |
| An SNX10 mutation causes malignant osteopetrosis of infancy. Aker M., Rouvinski A., Hashavia S., Ta-Shma A., Shaag A., Zenvirt S., Israel S., Weintraub M., Taraboulos A., Bar-Shavit Z. et al. J. Med. Genet. 49:221-226(2012) · Mapped (6) |
| Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. Spiegel R., Pines O., Ta-Shma A., Burak E., Shaag A., Halvardson J., Edvardson S., Mahajna M., Zenvirt S., Saada A. et al. Am. J. Hum. Genet. 90:518-523(2012) · UniProtKB (1) · Mapped (8) |
| Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Huppke P., Brendel C., Kalscheuer V., Korenke G.C., Marquardt I., Freisinger P., Christodoulou J., Hillebrand M., Pitelet G., Wilson C. et al. Am. J. Hum. Genet. 90:61-68(2012) · UniProtKB (1) |
| A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Navarro-Sastre A., Tort F., Stehling O., Uzarska M.A., Arranz J.A., Del Toro M., Labayru M.T., Landa J., Font A., Garcia-Villoria J. et al. Am. J. Hum. Genet. 89:656-667(2011) · UniProtKB (1) |
| Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. Berger I., Ben-Neriah Z., Dor-Wolman T., Shaag A., Saada A., Zenvirt S., Raas-Rothschild A., Nadjari M., Kaestner K.H., Elpeleg O. Mol. Genet. Metab. 104:517-520(2011) · UniProtKB (1) · Mapped (4) |
| A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). Ben-Neriah Z., Michaelson-Cohen R., Inbar-Feigenberg M., Nadjari M., Zeligson S., Shaag A., Zenvirt S., Elpeleg O., Levy-Lahad E. Am. J. Med. Genet. A 155A:2801-2806(2011) · Mapped (1) |
| Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Erlich Y., Edvardson S., Hodges E., Zenvirt S., Thekkat P., Shaag A., Dor T., Hannon G.J., Elpeleg O. |
| A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Edvardson S., Jalas C., Shaag A., Zenvirt S., Landau C., Lerer I., Elpeleg O. Am. J. Med. Genet. A 155A:1170-1172(2011) · Mapped (5) |
| Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Belostotsky R., Ben-Shalom E., Rinat C., Becker-Cohen R., Feinstein S., Zeligson S., Segel R., Elpeleg O., Nassar S., Frishberg Y. Am. J. Hum. Genet. 88:193-200(2011) · UniProtKB (1) |
| TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. Spiegel R., Khayat M., Shalev S.A., Horovitz Y., Mandel H., Hershkovitz E., Barghuti F., Shaag A., Saada A., Korman S.H. et al. J. Med. Genet. 48:177-182(2011) · Mapped (2) |
| Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Kaufmann R., Straussberg R., Mandel H., Fattal-Valevski A., Ben-Zeev B., Naamati A., Shaag A., Zenvirt S., Konen O., Mimouni-Bloch A. et al. Am. J. Hum. Genet. 87:667-670(2010) · UniProtKB (1) · Mapped (2) |
| LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Michot C., Hubert L., Brivet M., De Meirleir L., Valayannopoulos V., Muller-Felber W., Venkateswaran R., Ogier H., Desguerre I., Altuzarra C. et al. Hum. Mutat. 31:E1564-73(2010) · Mapped (8) |
| Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Edvardson S., Shaag A., Zenvirt S., Erlich Y., Hannon G.J., Shanske A.L., Gomori J.M., Ekstein J., Elpeleg O. Am. J. Hum. Genet. 86:93-97(2010) · UniProtKB (1) |
| SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Spiegel R., Shaag A., Edvardson S., Mandel H., Stepensky P., Shalev S.A., Horovitz Y., Pines O., Elpeleg O. |
| Acute infantile liver failure due to mutations in the TRMU gene. Zeharia A., Shaag A., Pappo O., Mager-Heckel A.-M., Saada A., Beinat M., Karicheva O., Mandel H., Ofek N., Segel R. et al. Am. J. Hum. Genet. 85:401-407(2009) · UniProtKB (1) |
| Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. Shteyer E., Saada A., Shaag A., Al-Hijawi F.A., Kidess R., Revel-Vilk S., Elpeleg O. Am. J. Hum. Genet. 84:412-417(2009) · UniProtKB (1) · Mapped (1) |
| Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Edvardson S., Hama H., Shaag A., Gomori J.M., Berger I., Soffer D., Korman S.H., Taustein I., Saada A., Elpeleg O. Am. J. Hum. Genet. 83:643-648(2008) · UniProtKB (1) · Mapped (2) |
| The H syndrome is caused by mutations in the nucleoside transporter hENT3. Molho-Pessach V., Lerer I., Abeliovich D., Agha Z., Abu Libdeh A., Broshtilova V., Elpeleg O., Zlotogorski A. Am. J. Hum. Genet. 83:529-534(2008) · UniProtKB (1) |
| Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Zeharia A., Shaag A., Houtkooper R.H., Hindi T., de Lonlay P., Erez G., Hubert L., Saada A., de Keyzer Y., Eshel G. et al. Am. J. Hum. Genet. 83:489-494(2008) · UniProtKB (1) · Mapped (6) |
| FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Ghezzi D., Saada A., D'Adamo P., Fernandez-Vizarra E., Gasparini P., Tiranti V., Elpeleg O., Zeviani M. Am. J. Hum. Genet. 83:415-423(2008) · Mapped (2) |