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102 results

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Page 1
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
Confino S, Wexler Y, Medvetzky A, Elazary Y, Ben-Moshe Z, Reiter J, Dor T, Edvardson S, Prag G, Harel T, Gothilf Y. Confino S, et al. Among authors: edvardson s. Dis Model Mech. 2024 Aug 1;17(8):dmm050746. doi: 10.1242/dmm.050746. Epub 2024 Aug 27. Dis Model Mech. 2024. PMID: 39189071 Free PMC article.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Abela L, Gianfrancesco L, Tagliatti E, Rossignoli G, Barwick K, Zourray C, Reid KM, Budinger D, Ng J, Counsell J, Simpson A, Pearson TS, Edvardson S, Elpeleg O, Brodsky FM, Lignani G, Barral S, Kurian MA. Abela L, et al. Among authors: edvardson s. Brain. 2024 Jun 3;147(6):2023-2037. doi: 10.1093/brain/awae020. Brain. 2024. PMID: 38242634 Free PMC article.
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T. Rips J, et al. Among authors: edvardson s. Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6. Genet Med. 2024. PMID: 38193396
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Lin X, Wang W, Yang M, Damseh N, de Sousa MML, Jacob F, Lång A, Kristiansen E, Pannone M, Kissova M, Almaas R, Kuśnierczyk A, Siller R, Shahrour M, Al-Ashhab M, Abu-Libdeh B, Tang W, Slupphaug G, Elpeleg O, Bøe SO, Eide L, Sullivan GJ, Rinholm JE, Song H, Ming GL, van Loon B, Edvardson S, Ye J, Bjørås M. Lin X, et al. Among authors: edvardson s. Genome Biol. 2023 Sep 29;24(1):216. doi: 10.1186/s13059-023-03037-1. Genome Biol. 2023. PMID: 37773136 Free PMC article.
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Strauss KA, Carson VJ, Bolettieri E, Everett M, Bollinger A, Bowser LE, Beiler K, Young M, Edvardson S, Fraenkel N, D'Amico A, Bertini E, Lingappa L, Chowdhury D, Lowes LP, Iammarino M, Alfano LN, Brigatti KW. Strauss KA, et al. Among authors: edvardson s. Ann Clin Transl Neurol. 2023 Nov;10(11):1972-1984. doi: 10.1002/acn3.51884. Epub 2023 Aug 25. Ann Clin Transl Neurol. 2023. PMID: 37632133 Free PMC article.
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.
O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Shaked HM, Rippert AL, Nomakuchi T, Izumi K, Kollman JM. O'Neill AG, et al. Among authors: edvardson s. bioRxiv [Preprint]. 2023 Mar 15:2023.03.15.532669. doi: 10.1101/2023.03.15.532669. bioRxiv. 2023. Update in: J Biol Chem. 2023 Aug;299(8):105012. doi: 10.1016/j.jbc.2023.105012. PMID: 36993700 Free PMC article. Updated. Preprint.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Among authors: edvardson s. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Nociception and pain in humans lacking a functional TRPV1 channel.
Katz B, Zaguri R, Edvardson S, Maayan C, Elpeleg O, Lev S, Davidson E, Peters M, Kfir-Erenfeld S, Berger E, Ghazalin S, Binshtok AM, Minke B. Katz B, et al. Among authors: edvardson s. J Clin Invest. 2023 Feb 1;133(3):e153558. doi: 10.1172/JCI153558. J Clin Invest. 2023. PMID: 36454632 Free PMC article.
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
Confino S, Dor T, Tovin A, Wexler Y, Ben-Moshe Livne Z, Kolker M, Pisanty O, Park SK, Geyer N, Reiter J, Edvardson S, Mor-Shaked H, Elpeleg O, Vallone D, Appelbaum L, Foulkes NS, Gothilf Y. Confino S, et al. Among authors: edvardson s. Int J Mol Sci. 2022 Feb 21;23(4):2373. doi: 10.3390/ijms23042373. Int J Mol Sci. 2022. PMID: 35216494 Free PMC article.
102 results