Publications by authors named "Devorah Soiferman"

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Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy.
Patrick Yu-Wai-Man, Devorah Soiferman, David G Moore, Florence Burté, Ann Saada

Mitochondrion· September 2017

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Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts.
Aviram Kogot-Levin, Ann Saada, Gil Leibowitz, Devorah Soiferman, Liza Douiev

PLoS One· June 2017

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The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.
Liza Douiev, Devorah Soiferman, Corinne Alban, Ann Saada

J Clin Med· December 2016

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Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
Ronen Spiegel, Devorah Soiferman, Avraham Shaag, Stavit Shalev, Orly Elpeleg

JIMD Rep· August 2016

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Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Ruth Sheffer, Liza Douiev, Simon Edvardson, Avraham Shaag, Khaled Tamimi, Devorah Soiferman

Am J Med Genet A· June 2016

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Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Ronen Spiegel, Ann Saada, Padraig J Flannery, Florence Burté, Devorah Soiferman

J Med Genet· February 2016

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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag

Eur J Hum Genet· February 2015

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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
Ronen Spiegel, Ann Saada, Jonatan Halvardson, Devorah Soiferman, Avraham Shaag

Eur J Hum Genet· July 2014

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The effect of small molecules on nuclear-encoded translation diseases.
Devorah Soiferman, Oshrat Ayalon, Sarah Weissman, Ann Saada

Biochimie· May 2014

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Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Simon Edvardson, Vito Porcelli, Chaim Jalas, Devorah Soiferman, Yuval Kellner

J Med Genet· April 2013

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