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Items: 10


Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy.

Yu-Wai-Man P, Soiferman D, Moore DG, Burté F, Saada A.

Mitochondrion. 2017 Sep;36:36-42. doi: 10.1016/j.mito.2017.01.004. Epub 2017 Jan 16.


The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.

Douiev L, Soiferman D, Alban C, Saada A.

J Clin Med. 2016 Dec 22;6(1). pii: E1. doi: 10.3390/jcm6010001.


Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts.

Kogot-Levin A, Saada A, Leibowitz G, Soiferman D, Douiev L, Raz I, Weksler-Zangen S.

PLoS One. 2016 Oct 25;11(10):e0165417. doi: 10.1371/journal.pone.0165417. eCollection 2016.


Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

Spiegel R, Soiferman D, Shaag A, Shalev S, Elpeleg O, Saada A.

JIMD Rep. 2017;33:55-60. doi: 10.1007/8904_2016_580. Epub 2016 Aug 19.


Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A.

Am J Med Genet A. 2016 Jun;170(6):1603-7. doi: 10.1002/ajmg.a.37624. Epub 2016 Mar 17.


Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.

J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.


Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A.

Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30.


Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O.

Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27.


The effect of small molecules on nuclear-encoded translation diseases.

Soiferman D, Ayalon O, Weissman S, Saada A.

Biochimie. 2014 May;100:184-91. doi: 10.1016/j.biochi.2013.08.024. Epub 2013 Sep 4.


Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O.

J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7.


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