Devorah Soiferman

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

Ronen Spiegel, Ann Saada, Padraig J. Flannery et al. · Journal of Medical Genetics · 2015 · 114 citations · Full text

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

Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler‐Furman et al. · European Journal of Human Genetics · 2014 · 102 citations · Full text

Mitochondrial Myopathy, Cardiomyopathy, Mitochondrial Biogenesis +7

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

Ruth Sheffer, Liza Douiev, Simon Edvardson et al. · American Journal of Medical Genetics Part A · 2016 · 96 citations

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

Ronen Spiegel, Ann Saada, Jonatan Halvardson et al. · European Journal of Human Genetics · 2013 · 83 citations · Full text

Mitochondrial Myopathy, Deleterious Mutation, Mendelian Disorder +7

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

Patrick Yu‐Wai‐Man, Devorah Soiferman, David Moore et al. · Mitochondrion · 2017 · 73 citations · Full text