Bilaketaren emaitzak - Edvardson, Simon

2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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 nork 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. nork 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 nork 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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