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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-05, Vol.7 (5), p.e36458-e36458
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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment
Author / Creator:Lin, Xiaolin ; Wang, Wei ; Yang, Mingyi ; Damseh, Nadirah ; de Sousa, Mirta Mittelstedt Leal ; Jacob, Fadi ; Lång, Anna ; Kristiansen, Elise ; Pannone, Marco ; Kissova, Miroslava ; Almaas, Runar ; Kuśnierczyk, Anna ; Siller, Richard ; Shahrour, Maher ; Al-Ashhab, Motee ; Abu-Libdeh, Bassam ; Tang, Wannan ; Slupphaug, Geir ; Elpeleg, Orly ; Bøe, Stig Ove ; Eide, Lars ; Sullivan, Gareth J. ; Rinholm, Johanne Egge ; Song, Hongjun ; Ming, Guo-li ; van Loon, Barbara ; Edvardson, Simon ; Ye, Jing ; Bjørås, Magnar
Publisher:London: BioMed Central Ltd
Journal title:Genome Biology, 2023-09, Vol.24 (1), p.216-216, Article 216
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Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
Author / Creator: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
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-06, Vol.53 (6), p.389-396
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A deleterious variant of INTS1 leads to disrupted sleep–wake cycles
Author / Creator:Confino, Shir ; Wexler, Yair ; Medvetzky, Adar ; Elazary, Yotam ; Ben-Moshe, Zohar ; Reiter, Joel ; Dor, Talya ; Edvardson, Simon ; Prag, Gali ; Harel, Tamar ; Gothilf, Yoav
Publisher:England: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2024-08, Vol.17 (8)
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Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Author / Creator:Drielsma, Anais ; Jalas, Chaim ; Simonis, Nicolas ; Désir, Julie ; Simanovsky, Natalia ; Pirson, Isabelle ; Elpeleg, Orly ; Abramowicz, Marc ; Edvardson, Simon
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-11, Vol.49 (11), p.708-712
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Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
Author / Creator:Edvardson, Simon ; Ashikov, Angel ; Jalas, Chaim ; Sturiale, Luisa ; Shaag, Avraham ; Fedick, Anastasia ; Treff, Nathan R ; Garozzo, Domenico ; Gerardy-Schahn, Rita ; Elpeleg, Orly
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-11, Vol.50 (11), p.733-739
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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Author / Creator:Ohlenbusch, Andreas ; Edvardson, Simon ; Skorpen, Johannes ; Bjornstad, Alf ; Saada, Ann ; Elpeleg, Orly ; Gärtner, Jutta ; Brockmann, Knut
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.69-69
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Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation
Author / Creator:Ta-Shma, Asaf ; El-lahham, Nael ; Edvardson, Simon ; Stepensky, Polina ; Nir, Amiram ; Perles, Zeev ; Gavri, Sagui ; Golender, Julius ; Yaakobi-Simhayoff, Nurit ; Shaag, Avraham ; Rein, Azaria J J T ; Elpeleg, Orly
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-04, Vol.51 (4), p.268-270
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WiTNNess : An international natural history study of infantile‐onset TNNT1 myopathy
Author / Creator:Strauss, Kevin A. ; Carson, Vincent J. ; Bolettieri, Emilienne ; Everett, Mariah ; Bollinger, Ashton ; Bowser, Lauren E. ; Beiler, Keturah ; Young, Millie ; Edvardson, Simon ; Fraenkel, Nitay ; D'Amico, Adele ; Bertini, Enrico ; Lingappa, Lokesh ; Chowdhury, Devyani ; Lowes, Linda P. ; Iammarino, Megan ; Alfano, Lindsay N. ; Brigatti, Karlla W.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2023-11, Vol.10 (11), p.1972-1984
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2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
Author / Creator:Dan, Phyllis ; Edvardson, Simon ; Bielawski, Jacek ; Hama, Hiroko ; Saada, Ann
Publisher:England: BioMed Central Ltd
Journal title:Lipids in health and disease, 2011-05, Vol.10 (1), p.84-84, Article 84
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Nociception and pain in humans lacking a functional TRPV1 channel
Author / Creator:Katz, Ben ; Zaguri, Rachel ; Edvardson, Simon ; Maayan, Channa ; Elpeleg, Orly ; Lev, Shaya ; Davidson, Elyad ; Peters, Maximilian ; Kfir-Erenfeld, Shlomit ; Berger, Esther ; Ghazalin, Shifa ; Binshtok, Alexander M. ; Minke, Baruch
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2023-02, Vol.133 (3), p.1-17
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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
Author / Creator:Abdulhag, Ulla Najwa ; Soiferman, Devorah ; Schueler-Furman, Ora ; Miller, Chaya ; Shaag, Avraham ; Elpeleg, Orly ; Edvardson, Simon ; Saada, Ann
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.159-164
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tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.545-551
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Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
Author / Creator:Mandel, Hanna ; Saita, Shotaro ; Edvardson, Simon ; Jalas, Chaim ; Shaag, Avraham ; Goldsher, Dorit ; Vlodavsky, Euvgeni ; Langer, Thomas ; Elpeleg, Orly
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-10, Vol.53 (10), p.690-696
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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
Author / Creator:Spiegel, Ronen ; Saada, Ann ; Halvardson, Jonatan ; Soiferman, Devorah ; Shaag, Avraham ; Edvardson, Simon ; Horovitz, Yoseph ; Khayat, Morad ; Shalev, Stavit A ; Feuk, Lars ; Elpeleg, Orly
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.902-906
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A human laterality disorder caused by a homozygous deleterious mutation in MMP21
Author / Creator:Perles, Zeev ; Moon, Sungjin ; Ta-Shma, Asaf ; Yaacov, Barak ; Francescatto, Ludmila ; Edvardson, Simon ; Rein, Azaria JJT ; Elpeleg, Orly ; Katsanis, Nicholas
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-12, Vol.52 (12), p.840-847
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KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
Author / Creator:Dor, Talya ; Cinnamon, Yuval ; Raymond, Laure ; Shaag, Avraham ; Bouslam, Naima ; Bouhouche, Ahmed ; Gaussen, Marion ; Meyer, Vincent ; Durr, Alexandra ; Brice, Alexis ; Benomar, Ali ; Stevanin, Giovanni ; Schuelke, Markus ; Edvardson, Simon
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-02, Vol.51 (2), p.137-142
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Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
Author / Creator:Abu-Libdeh, Bassam ; Ashhab, Motee ; Shahrour, Maher ; Daana, Muhannad ; Dudin, Anwar ; Elpeleg, Orly ; Edvardson, Simon ; Harel, Tamar
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2019-10, Vol.20 (4), p.209-213
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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
Author / Creator:Damseh, Nadirah ; Simonin, Alexandre ; Jalas, Chaim ; Picoraro, Joseph A ; Shaag, Avraham ; Cho, Megan T ; Yaacov, Barak ; Neidich, Julie ; Al-Ashhab, Motee ; Juusola, Jane ; Bale, Sherri ; Telegrafi, Aida ; Retterer, Kyle ; Pappas, John G ; Moran, Ellen ; Cappell, Joshua ; Anyane Yeboa, Kwame ; Abu-Libdeh, Bassam ; Hediger, Matthias A ; Chung, Wendy K ; Elpeleg, Orly ; Edvardson, Simon
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-08, Vol.52 (8), p.541-547
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West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
Author / Creator:Banne, Ehud ; Atawneh, Osama ; Henneke, Marco ; Brockmann, Knut ; Gärtner, Jutta ; Elpeleg, Orly ; Edvardson, Simon
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-11, Vol.50 (11), p.772-775
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Showing 1 to 20 of 38 results

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

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A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment

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

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A deleterious variant of INTS1 leads to disrupted sleep–wake cycles

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Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

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Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

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Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation

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WiTNNess : An international natural history study of infantile‐onset TNNT1 myopathy

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

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Nociception and pain in humans lacking a functional TRPV1 channel

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

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

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Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

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A human laterality disorder caused by a homozygous deleterious mutation in MMP21

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KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

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Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

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West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation

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