Hershkovitz E - Search Results

1

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing; Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC. Shahrour MA, et al. Among authors: hershkovitz e. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12. Clin Genet. 2017. PMID: 27573165 Free PMC article.

2

Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.

Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON. Shany E, et al. Among authors: hershkovitz e. Biochem Biophys Res Commun. 1999 Aug 19;262(1):163-6. doi: 10.1006/bbrc.1999.1133. Biochem Biophys Res Commun. 1999. PMID: 10448086

3

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.

Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E. Parvari R, et al. Among authors: hershkovitz e. Am J Hum Genet. 2001 Oct;69(4):869-75. doi: 10.1086/323624. Epub 2001 Aug 24. Am J Hum Genet. 2001. PMID: 11524703 Free PMC article.

4

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.

Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O. Miller C, et al. Among authors: hershkovitz e. Ann Neurol. 2004 Nov;56(5):734-8. doi: 10.1002/ana.20282. Ann Neurol. 2004. PMID: 15505824

5

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Elpeleg O, et al. Among authors: hershkovitz e. Am J Hum Genet. 2005 Jun;76(6):1081-6. doi: 10.1086/430843. Epub 2005 Apr 22. Am J Hum Genet. 2005. PMID: 15877282 Free PMC article.

6

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O. Berger I, et al. Among authors: hershkovitz e. Ann Neurol. 2008 Mar;63(3):405-8. doi: 10.1002/ana.21332. Ann Neurol. 2008. PMID: 18306244

7

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. Spiegel R, et al. Among authors: hershkovitz e. J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8. J Med Genet. 2011. PMID: 21147908

8

Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.

Haziza S, Magnani R, Lan D, Keinan O, Saada A, Hershkovitz E, Yanay N, Cohen Y, Nevo Y, Houtz RL, Sheffield VC, Golan H, Parvari R. Haziza S, et al. Among authors: hershkovitz e. PLoS Genet. 2015 Aug 6;11(8):e1005388. doi: 10.1371/journal.pgen.1005388. eCollection 2015 Aug. PLoS Genet. 2015. PMID: 26247364 Free PMC article.

9

Pulmonary involvement in Niemann-Pick C type 1.

Staretz-Chacham O, Aviram M, Morag I, Goldbart A, Hershkovitz E. Staretz-Chacham O, et al. Among authors: hershkovitz e. Eur J Pediatr. 2018 Nov;177(11):1609-1615. doi: 10.1007/s00431-018-3219-6. Epub 2018 Jul 31. Eur J Pediatr. 2018. PMID: 30066180

10

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, Abu Salah N, Anikster Y, Banne E, Dar D, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Hershkovitz E, Josefsberg S, Khammash H, Keidar R, Korman SH, Landau Y, Lerman-Sagie T, Mandel D, Mandel H, Marom R, Morag I, Nadir E, Yosha-Orpaz N, Pode-Shakked B, Pras E, Reznik-Wolf H, Saada A, Segel R, Shaag A, Shaul Lotan N, Spiegel R, Tal G, Vaisid T, Zeharia A, Almashanu S. Staretz-Chacham O, et al. Among authors: hershkovitz e. J Inherit Metab Dis. 2021 May;44(3):606-617. doi: 10.1002/jimd.12331. Epub 2020 Nov 30. J Inherit Metab Dis. 2021. PMID: 33190319

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