Leshinsky-Silver E - Search Results

1

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH. Esmaeeli Nieh S, et al. Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125038 Free PMC article.

2

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.

Blumkin L, Kivity S, Lev D, Cohen S, Shomrat R, Lerman-Sagie T, Leshinsky-Silver E. Blumkin L, et al. J Neurol. 2012 Dec;259(12):2590-8. doi: 10.1007/s00415-012-6545-z. Epub 2012 May 26. J Neurol. 2012. PMID: 22638565

3

Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

Blumkin L, Michelson M, Leshinsky-Silver E, Kivity S, Lev D, Lerman-Sagie T. Blumkin L, et al. J Child Neurol. 2010 Jul;25(7):892-7. doi: 10.1177/0883073809351316. Epub 2010 Jan 21. J Child Neurol. 2010. PMID: 20097664

4

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.

Blumkin L, Leshinsky-Silver E, Zerem A, Yosovich K, Lerman-Sagie T, Lev D. Blumkin L, et al. JIMD Rep. 2014;12:103-7. doi: 10.1007/8904_2013_251. Epub 2013 Sep 19. JIMD Rep. 2014. PMID: 24048965 Free PMC article.

5

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

Blumkin L, Leshinsky-Silver E, Michelson M, Zerem A, Kivity S, Lev D, Lerman-Sagie T. Blumkin L, et al. Eur J Paediatr Neurol. 2015 May;19(3):292-7. doi: 10.1016/j.ejpn.2014.12.018. Epub 2015 Jan 8. Eur J Paediatr Neurol. 2015. PMID: 25596066

6

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM. Metz KA, et al. Among authors: leshinsky silver e. Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8. Ann Neurol. 2018. PMID: 30295347 Free PMC article.

7

Should autistic children be evaluated for mitochondrial disorders?

Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Lev D. Lerman-Sagie T, et al. J Child Neurol. 2004 May;19(5):379-81. doi: 10.1177/088307380401900510. J Child Neurol. 2004. PMID: 15224710 Review.

8

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Leshinsky-Silver E, Shuvalov R, Inbar S, Cohen S, Lev D, Lerman-Sagie T. Leshinsky-Silver E, et al. J Child Neurol. 2011 Apr;26(4):476-81. doi: 10.1177/0883073810384615. Epub 2010 Dec 31. J Child Neurol. 2011. PMID: 21196529

9

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. Blumkin L, et al. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. doi: 10.1016/j.jns.2011.03.011. Epub 2011 Mar 25. J Neurol Sci. 2011. PMID: 21440262

10

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.

Nishri D, Goldberg-Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman-Sagie T, Lev D. Nishri D, et al. Among authors: leshinsky silver e. Eur J Paediatr Neurol. 2016 May;20(3):412-7. doi: 10.1016/j.ejpn.2016.02.012. Epub 2016 Mar 2. Eur J Paediatr Neurol. 2016. PMID: 26970947

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