1 - 25 of 41 results for author:"Shaag A." 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) |
| 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) |
| 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) |
| 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) |
| Ca2+-dependent desensitization of TRPV2 channels is mediated by hydrolysis of phosphatidylinositol 4,5-bisphosphate. Mercado J., Gordon-Shaag A., Zagotta W.N., Gordon S.E. J. Neurosci. 30:13338-13347(2010) · Mapped (2) |
| 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. |
| 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) |
| Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Saada A., Vogel R.O., Hoefs S.J., van den Brand M.A., Wessels H.J., Willems P.H., Venselaar H., Shaag A., Barghuti F., Reish O. et al. Am. J. Hum. Genet. 84:718-727(2009) · UniProtKB (4) |
| 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) |
| Membrane lipid modulations remove divalent open channel block from TRP-like and NMDA channels. Parnas M., Katz B., Lev S., Tzarfaty V., Dadon D., Gordon-Shaag A., Metzner H., Yaka R., Minke B. J. Neurosci. 29:2371-2383(2009) · Mapped (5) |
| 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) |
| 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) |
| 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) |
| Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. Saada A., Shaag A., Arnon S., Dolfin T., Miller C., Fuchs-Telem D., Lombes A., Elpeleg O. J. Med. Genet. 44:784-786(2007) · UniProtKB (1) · Mapped (7) |