Lev D - 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. Among authors: lev d. 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

White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation.

Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. Lev D, et al. Eur J Paediatr Neurol. 2002;6(2):121-3. doi: 10.1053/ejpn.2001.0558. Eur J Paediatr Neurol. 2002. PMID: 11995959

3

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.

Leshinsky-Silver E, Zinger A, Bibi CN, Barash V, Sadeh M, Lev D, Sagie TL. Leshinsky-Silver E, et al. Among authors: lev d. Eur J Hum Genet. 2002 Apr;10(4):226-30. doi: 10.1038/sj.ejhg.5200791. Eur J Hum Genet. 2002. PMID: 12032729

4

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.

Leshinsky-Silver E, Perach M, Basilevsky E, Hershkovitz E, Yanoov-Sharav M, Lerman-Sagie T, Lev D. Leshinsky-Silver E, et al. Among authors: lev d. Prenat Diagn. 2003 Jan;23(1):31-3. doi: 10.1002/pd.516. Prenat Diagn. 2003. PMID: 12533809

5

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. Among authors: lev d. 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

6

Familial optic atrophy with white matter changes.

Vinkler C, Lev D, Kalish H, Watemberg N, Yanoov-Sharav M, Leshinsky-Silver E, Lerman-Sagie T. Vinkler C, et al. Among authors: lev d. Am J Med Genet A. 2003 Sep 1;121A(3):263-5. doi: 10.1002/ajmg.a.20238. Am J Med Genet A. 2003. PMID: 12923868

7

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. Among authors: lev d. Mol Genet Metab. 2003 Aug;79(4):288-93. doi: 10.1016/s1096-7192(03)00097-0. Mol Genet Metab. 2003. PMID: 12948744

8

[Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center].

Ginzberg M, Watemberg N, Levi A, Gabai A, Nissenkorn A, Blumkin L, Vinkler C, Lev D, Lerman-Sagie T. Ginzberg M, et al. Among authors: lev d. Harefuah. 2004 Mar;143(3):177-81, 248, 247. Harefuah. 2004. PMID: 15065353 Hebrew.

9

Should autistic children be evaluated for mitochondrial disorders?

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

10

Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome.

Lerman-Sagie T, Watemberg N, Vinkler C, Fishhof J, Leshinsky-Silver E, Lev D. Lerman-Sagie T, et al. Among authors: lev d. J Child Neurol. 2004 Jul;19(7):522-5. doi: 10.1177/08830738040190070801. J Child Neurol. 2004. PMID: 15526957

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