Leshinsky-Silver E - Search Results

1

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.

Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J. Böhm J, et al. Acta Neuropathol. 2012 Oct;124(4):575-81. doi: 10.1007/s00401-012-1007-3. Epub 2012 Jul 3. Acta Neuropathol. 2012. PMID: 22752422

2

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

Leshinsky-Silver E, Shapira D, Yosovitz K, Ginsberg M, Lerman-Sagie T, Lev D. Leshinsky-Silver E, et al. J Neurol Sci. 2012 May 15;316(1-2):112-5. doi: 10.1016/j.jns.2012.01.012. Epub 2012 Feb 10. J Neurol Sci. 2012. PMID: 22326364

3

Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.

Leshinsky-Silver E, Ginzberg M, Dabby R, Sadeh M, Lev D, Lerman-Sagie T. Leshinsky-Silver E, et al. Eur J Paediatr Neurol. 2013 Jan;17(1):64-7. doi: 10.1016/j.ejpn.2012.08.006. Epub 2012 Sep 13. Eur J Paediatr Neurol. 2013. PMID: 22981636

4

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

5

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

6

A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.

Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, Leshinsky-Silver E, Lerman-Sagie T, Watemberg N. Lev D, et al. Am J Med Genet A. 2007 May 1;143A(9):921-4. doi: 10.1002/ajmg.a.31531. Am J Med Genet A. 2007. PMID: 17334993

7

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, Saada A. Leshinsky-Silver E, et al. Mol Genet Metab. 2010 May;100(1):65-70. doi: 10.1016/j.ymgme.2010.02.002. Epub 2010 Feb 10. Mol Genet Metab. 2010. PMID: 20202874

8

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).

Bauer P, Leshinsky-Silver E, Blumkin L, Schlipf N, Schröder C, Schicks J, Lev D, Riess O, Lerman-Sagie T, Schöls L. Bauer P, et al. Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0. Neurogenetics. 2012. PMID: 22290197

9

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

10

A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.

Leshinsky-Silver E, Michelson M, Cohen S, Ginsberg M, Sadeh M, Barash V, Lerman-Sagie T, Lev D. Leshinsky-Silver E, et al. Eur J Paediatr Neurol. 2008 Jul;12(4):309-13. doi: 10.1016/j.ejpn.2007.09.005. Epub 2007 Oct 22. Eur J Paediatr Neurol. 2008. PMID: 17951082

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