19 results for author:"Edvardson S." in Literature citations
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| Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus. Drielsma A., Jalas C., Simonis N., Desir J., Simanovsky N., Pirson I., Elpeleg O., Abramowicz M., Edvardson S. J. Med. Genet. 49:708-712(2012) · Mapped (4) |
| Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Ohlenbusch A., Edvardson S., Skorpen J., Bjornstad A., Saada A., Elpeleg O., Gartner J., Brockmann K. Orphanet J Rare Dis 7:69-69(2012) · Mapped (1) |
| 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 (3) |
| 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) |
| 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 (7) |
| Functional consequences and structural interpretation of mutations of human choline acetyltransferase. Shen X.M., Crawford T.O., Brengman J., Acsadi G., Iannaconne S., Karaca E., Khoury C., Mah J.K., Edvardson S., Bajzer Z. et al. Hum. Mutat. 32:1259-1267(2011) · Mapped (8) |
| 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase. Dan P., Edvardson S., Bielawski J., Hama H., Saada A. Lipids Health Dis 10:84-84(2011) · Mapped (3) |
| 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) |
| 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) |
| Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Kruer M.C., Paisan-Ruiz C., Boddaert N., Yoon M.Y., Hama H., Gregory A., Malandrini A., Woltjer R.L., Munnich A., Gobin S. et al. |
| l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. Edvardson S., Korman S.H., Livne A., Shaag A., Saada A., Nalbandian R., Allouche-Arnon H., Gomori J.M., Katz-Brull R. Mol. Genet. Metab. 101:228-232(2010) · Mapped (1) |
| 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. |
| 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) |
| Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Berger I., Hershkovitz E., Shaag A., Edvardson S., Saada A., Elpeleg O. |
| C6ORF66 is an assembly factor of mitochondrial complex I. Saada A., Edvardson S., Rapoport M., Shaag A., Amry K., Miller C., Lorberboum-Galski H., Elpeleg O. Am. J. Hum. Genet. 82:32-38(2008) · UniProtKB (1) |
| Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Edvardson S., Shaag A., Kolesnikova O., Gomori J.M., Tarassov I., Einbinder T., Saada A., Elpeleg O. Am. J. Hum. Genet. 81:857-862(2007) · UniProtKB (1) |