檢索結果 - Edvardson, Simon

2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase 由 Dan, Phyllis, Edvardson, Simon, Bielawski, Jacek, Hama, Hiroko, Saada, Ann

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Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site 由 Shen, Xin-Ming, Brengman, Joan M., Edvardson, Simon, Sine, Steve M., Engel, Andrew G.

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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency 由 Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut

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Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia 由 Edvardson, Simon , Shaag, Avraham , Kolesnikova, Olga , Gomori, John Moshe , Tarassov, Ivan , Einbinder, Tom , Saada, Ann , Elpeleg, Orly 

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C6ORF66 Is an Assembly Factor of Mitochondrial Complex I 由 Saada, Ann, Edvardson, Simon, Rapoport, Matan, Shaag, Avraham, Amry, Khaled, Miller, Chaya, Lorberboum-Galski, Haya, Elpeleg, Orly

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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy 由 Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann

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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis 由 Erlich, Yaniv, Edvardson, Simon, Hodges, Emily, Zenvirt, Shamir, Thekkat, Pramod, Shaag, Avraham, Dor, Talya, Hannon, Gregory J., Elpeleg, Orly

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A human laterality disorder caused by a homozygous deleterious mutation in MMP21 由 Perles, Zeev, Moon, Sungjin, Ta-Shma, Asaf, Yaacov, Barak, Francescatto, Ludmila, Edvardson, Simon, Rein, Azaria JJT, Elpeleg, Orly, Katsanis, Nicholas

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Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation 由 Edvardson, Simon, Shaag, Avraham, Zenvirt, Shamir, Erlich, Yaniv, Hannon, Gregory J., Shanske, Alan L., Gomori, John Moshe, Ekstein, Joseph, Elpeleg, Orly

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Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation 由 Edvardson, Simon, Shaag, Avraham, Zenvirt, Shamir, Erlich, Yaniv, Hannon, Gregory J., Shanske, Alan L., Gomori, John Moshe, Ekstein, Joseph, Elpeleg, Orly

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Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia 由 Edvardson, Simon, Hama, Hiroko, Shaag, Avraham, Gomori, John Moshe, Berger, Itai, Soffer, Dov, Korman, Stanley H., Taustein, Ilana, Saada, Ann, Elpeleg, Orly

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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy 由 Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly

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PARP10 deficiency manifests by infantile neurodegeneration and DNA repair defect 由 Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly

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Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy 由 Edvardson, Simon, Yi, Jae Kyo, Jalas, Chaim, Xu, Ruijuan, Webb, Bryn D, Snider, Justin, Fedick, Anastasia, Kleinman, Elisheva, Treff, Nathan R, Mao, Cungui, Elpeleg, Orly

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tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy 由 Edvardson, Simon, Prunetti, Laurence, Arraf, Aiman, Haas, Drago, Bacusmo, Jo Marie, Hu, Jennifer F, Ta-Shma, Asas, Dedon, Peter C, de Crécy-Lagard, Valérie, Elpeleg, Orly

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Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive 由 Edvardson, Simon, Nicolae, Claudia M., Noh, Grace J., Burton, Jennifer E., Punzi, Giuseppe, Shaag, Avraham, Bischetsrieder, Jessica, De Grassi, Anna, Pierri, Ciro Leonardo, Elpeleg, Orly, Moldovan, George-Lucian

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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism 由 Edvardson, Simon, Cinnamon, Yuval, Ta-Shma, Asaf, Shaag, Avraham, Yim, Yang-In, Zenvirt, Shamir, Jalas, Chaim, Lesage, Suzanne, Brice, Alexis, Taraboulos, Albert, Kaestner, Klaus H., Greene, Lois E., Elpeleg, Orly

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A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration 由 Damseh, Nadirah, Danson, Chris M., Al-Ashhab, Motee, Abu-Libdeh, Bassam, Gallon, Matthew, Sharma, Kanchan, Yaacov, Barak, Coulthard, Elizabeth, Caldwell, Maeve A., Edvardson, Simon, Cullen, Peter J., Elpeleg, Orly

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A homozygous deleterious mutation in CDK10 is associated with agenesis of corpus callosum, retinopathy and deafness. 由 Guen, Vincent J., Edvardson, Simon, Fraenkel, Nitay D., Fattal-Valevski, Aviva, Jalas, Chaim, Anteby, Irene, Shaag, Avraham, Dor, Talia, Gillis, David, Kerem, Eitan, Lees, Jacqueline A., Colas, Pierre, Elpeleg, Orly

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MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy 由 Helman, Guy, Caldovic, Ljubica, Whitehead, Matthew T., Simons, Cas, Brockmann, Knut, Edvardson, Simon, Bai, Renkui, Moroni, Isabella, Taylor, J. Michael, Van Haren, Keith, Taft, Ryan J., Vanderver, Adeline, van der Knaap, Marjo S.

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