Edvardson S - Search Results

1

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ. Kruer MC, et al. Among authors: edvardson s. Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122. Ann Neurol. 2010. PMID: 20853438 Free PMC article.

2

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

3

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.

O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Mor-Shaked H, Rippert AL, Nomakuchi T, Izumi K, Kollman JM. O'Neill AG, et al. Among authors: edvardson s. J Biol Chem. 2023 Aug;299(8):105012. doi: 10.1016/j.jbc.2023.105012. Epub 2023 Jul 4. J Biol Chem. 2023. PMID: 37414152 Free PMC article.

4

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.

5

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. PMID: 36993700 Free PMC article. Updated. Preprint.

6

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O. Edvardson S, et al. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010. Am J Hum Genet. 2008. PMID: 19068277 Free PMC article.

7

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

Dan P, Edvardson S, Bielawski J, Hama H, Saada A. Dan P, et al. Among authors: edvardson s. Lipids Health Dis. 2011 May 20;10:84. doi: 10.1186/1476-511X-10-84. Lipids Health Dis. 2011. PMID: 21599921 Free PMC article.

8

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Among authors: edvardson s. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.

9

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Spiegel R, Shaag A, Edvardson S, Mandel H, Stepensky P, Shalev SA, Horovitz Y, Pines O, Elpeleg O. Spiegel R, et al. Among authors: edvardson s. Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752. Ann Neurol. 2009. PMID: 19798730

10

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.

Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N. Lebre AS, et al. Among authors: edvardson s. J Med Genet. 2011 Jan;48(1):16-23. doi: 10.1136/jmg.2010.079624. Epub 2010 Oct 23. J Med Genet. 2011. PMID: 20972245

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