Leshinsky-Silver E - Search Results

1

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510

2

White matter involvement in mitochondrial diseases.

Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Luckman Y, Lev D. Lerman-Sagie T, et al. Mol Genet Metab. 2005 Feb;84(2):127-36. doi: 10.1016/j.ymgme.2004.09.008. Epub 2004 Dec 10. Mol Genet Metab. 2005. PMID: 15670718 Review.

3

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

4

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

Leshinsky-Silver E, Lebre AS, Minai L, Saada A, Steffann J, Cohen S, Rötig A, Munnich A, Lev D, Lerman-Sagie T. Leshinsky-Silver E, et al. Mol Genet Metab. 2009 Jul;97(3):185-9. doi: 10.1016/j.ymgme.2009.03.002. Epub 2009 Mar 11. Mol Genet Metab. 2009. PMID: 19364667

5

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.

Straussberg R, Marom D, Sanado-Inbar E, Lakovsky Y, Horev G, Shalev SA, Lev D, Lerman-Sagie T, Leshinsky-Silver E. Straussberg R, et al. J Child Neurol. 2015 Mar;30(4):490-5. doi: 10.1177/0883073814549241. Epub 2014 Sep 22. J Child Neurol. 2015. PMID: 25246298

6

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency.

Leshinsky-Silver E, Levine A, Nissenkorn A, Barash V, Perach M, Buzhaker E, Shahmurov M, Polak-Charcon S, Lev D, Lerman-Sagie T. Leshinsky-Silver E, et al. Mol Genet Metab. 2003 Aug;79(4):288-93. doi: 10.1016/s1096-7192(03)00097-0. Mol Genet Metab. 2003. PMID: 12948744

7

A new autosomal recessive syndrome with Zellweger-like manifestations.

Ahn JK, Lev D, Leshinsky-Silver E, Ginzberg M, Lerman-Sagie T. Ahn JK, et al. Am J Med Genet A. 2003 Jun 15;119A(3):352-5. doi: 10.1002/ajmg.a.20124. Am J Med Genet A. 2003. PMID: 12784304

8

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

Blumkin L, Halevy A, Ben-Ami-Raichman D, Dahari D, Haviv A, Sarit C, Lev D, van der Knaap MS, Lerman-Sagie T, Leshinsky-Silver E. Blumkin L, et al. Neurogenetics. 2014 May;15(2):107-13. doi: 10.1007/s10048-014-0392-2. Epub 2014 Feb 14. Neurogenetics. 2014. PMID: 24526230

9

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D. Vinkler C, et al. Eur J Med Genet. 2014 May-Jun;57(6):288-92. doi: 10.1016/j.ejmg.2014.03.010. Epub 2014 Apr 5. Eur J Med Genet. 2014. PMID: 24709618

10

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS. Feinstein M, et al. J Med Genet. 2014 May;51(5):303-8. doi: 10.1136/jmedgenet-2013-101823. Epub 2014 Feb 27. J Med Genet. 2014. PMID: 24577744

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

85 results

Search Page

Filters