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Brain calcifications and PCDH12 variants.
Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM. Nicolas G, et al. Among authors: segel r. Neurol Genet. 2017 Jul 26;3(4):e166. doi: 10.1212/NXG.0000000000000166. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28804758 Free PMC article.
Mutant ADA2 in vasculopathies.
Segel R, King MC, Levy-Lahad E. Segel R, et al. N Engl J Med. 2014 Jul 31;371(5):481. doi: 10.1056/NEJMc1405506. N Engl J Med. 2014. PMID: 25083540 No abstract available.
Copy number variations in cryptogenic cerebral palsy.
Segel R, Ben-Pazi H, Zeligson S, Fatal-Valevski A, Aran A, Gross-Tsur V, Schneebaum-Sender N, Shmueli D, Lev D, Perlberg S, Blumkin L, Deutsch L, Levy-Lahad E. Segel R, et al. Neurology. 2015 Apr 21;84(16):1660-8. doi: 10.1212/WNL.0000000000001494. Epub 2015 Mar 27. Neurology. 2015. PMID: 25817843
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, Picard E, Segel R, Zeligson S, Carmel L, Renbaum P, Levy-Lahad E. Jaron R, et al. Among authors: segel r. Clin Genet. 2016 Dec;90(6):540-544. doi: 10.1111/cge.12764. Epub 2016 May 2. Clin Genet. 2016. PMID: 26925547
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E. Aran A, et al. Among authors: segel r. Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29. Neurology. 2016. PMID: 27164683 Free PMC article.
Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T. Aran A, et al. Among authors: segel r. Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10. Neurology. 2017. PMID: 28188302 Free PMC article.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R. Langer Y, et al. Among authors: segel r. J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15. J Med Genet. 2018. PMID: 29764912 Free article.
94 results