Search Results - Edvardson, Simon

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  1. 1
    2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

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

    Published 2011
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  2. 2
    Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site

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

    Published 2012
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  3. 3
    Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

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

    Published 2012
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  4. 4
    Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

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

    Published 2007
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  5. 5
    C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

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

    Published 2008
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  6. 6
    Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

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

    Published 2015
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  7. 7
    Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

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

    Published 2011
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  8. 8
    A human laterality disorder caused by a homozygous deleterious mutation in MMP21

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

    Published 2015
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  9. 9
    Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

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

    Published 2010
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  10. 10
    Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

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

    Published 2010
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  11. 11
    Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

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

    Published 2008
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  12. 12
    Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

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

    Published 2014
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  13. 13
    PARP10 deficiency manifests by infantile neurodegeneration and DNA repair defect

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

    Published 2016
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  14. 14
    Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

    Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy by 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

    Published 2016
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  15. 15
    tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

    tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy by 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

    Published 2017
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  16. 16
    Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

    Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive by 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

    Published 2019
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  17. 17
    A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

    A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism by 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

    Published 2012
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  18. 18
    A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

    A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration by 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

    Published 2015
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  19. 19
    A homozygous deleterious mutation in CDK10 is associated with agenesis of corpus callosum, retinopathy and deafness.

    A homozygous deleterious mutation in CDK10 is associated with agenesis of corpus callosum, retinopathy and deafness. by 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

    Published 2017
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  20. 20
    MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy

    MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy by 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.

    Published 2016
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