Soiferman, Devorah: search on Z-Library

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1

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

Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 914 KB

english, 2015

2

The effect of small molecules on nuclear-encoded translation diseases

Soiferman, Devorah, Ayalon, Oshrat, Weissman, Sarah, Saada, Ann

Journal:

Year:

2014

Language:

english

File:

PDF, 762 KB

english, 2014

3

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

Yu-Wai-Man, Patrick, Soiferman, Devorah, Moore, David G., Burté, Florence, Saada, Ann

Journal:

Year:

2017

Language:

english

File:

PDF, 629 KB

english, 2017

4

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

Douiev, Liza, Soiferman, Devorah, Alban, Corinne, Saada, Ann

Journal:

Journal of Clinical Medicine

Year:

2016

Language:

english

File:

PDF, 1010 KB

english, 2016

5

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

Sheffer, Ruth, Douiev, Liza, Edvardson, Simon, Shaag, Avraham, Tamimi, Khaled, Soiferman, Devorah, Meiner, Vardiella, Saada, Ann

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 381 KB

english, 2016

6

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

Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 659 KB

english, 2014

7

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

Spiegel, Ronen, Saada, Ann, Flannery, Padraig J, Burté, Florence, Soiferman, Devorah, Khayat, Morad, Eisner, Verónica, Vladovski, Eugene, Taylor, Robert W, Bindoff, Laurence A, Shaag, Avraham, Mandel,

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 570 KB

english, 2016

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