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2002 1
2004 1
2006 1
2009 1
2012 1
2015 2
2016 1
2017 1
2021 1
2023 0
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Page 1
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich UBS, Lauxmann S, Wolff M, Synofzik M, Bast T, Binelli A, Serratosa JM, Martínez-Ulloa P, Allen NM, King MD, Gorman KM, Zeev BB, Tzadok M, Wong-Kisiel L, Marjanovic D, Rubboli G, Sisodiya SM, Lutz F, Ashraf HP, Torge K, Yan P, Bosselmann C, Schwarz N, Fudali M, Lerche H. Hedrich UBS, et al. Among authors: zeev bb. Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1. Sci Transl Med. 2021. PMID: 34516822
The phenotype associated with a large deletion on MECP2.
Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, Leonard H. Bebbington A, et al. Among authors: zeev bb. Eur J Hum Genet. 2012 Sep;20(9):921-7. doi: 10.1038/ejhg.2012.34. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473088 Free PMC article.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: zeev bb. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
Petel-Galil Y, Benteer B, Galil YP, Zeev BB, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E. Petel-Galil Y, et al. Among authors: zeev bb. J Med Genet. 2006 Dec;43(12):e56. doi: 10.1136/jmg.2006.041285. J Med Genet. 2006. PMID: 17142618 Free PMC article.
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB. Heimer G, et al. Among authors: zeev bb. J Child Neurol. 2015 Nov;30(13):1749-56. doi: 10.1177/0883073815579708. Epub 2015 Apr 20. J Child Neurol. 2015. PMID: 25895915
Autoimmune epilepsy: some epilepsy patients harbor autoantibodies to glutamate receptors and dsDNA on both sides of the blood-brain barrier, which may kill neurons and decrease in brain fluids after hemispherotomy.
Ganor Y, Goldberg-Stern H, Amrom D, Lerman-Sagie T, Teichberg VI, Pelled D, Futerman AH, Zeev BB, Freilinger M, Verheulpen D, Van Bogaert P, Levite M. Ganor Y, et al. Among authors: zeev bb. Clin Dev Immunol. 2004 Sep-Dec;11(3-4):241-52. doi: 10.1080/17402520400001736. Clin Dev Immunol. 2004. PMID: 15559370 Free PMC article.