Anne Sophie Lebre

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

Alexandra Dürr, Olivier Didierjean, G. Imbert et al. · Human Molecular Genetics · 1997 · 256 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre et al. · Journal of Medical Genetics · 2013 · 190 citations · Full text

Life Sciences, Genetics, Human Genetics +4

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

David Goudenège, Céline Bris, Virginie Hoffmann et al. · Genetics in Medicine · 2018 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Two new cases with Pearson syndrome and review of Hacettepe experience.

Rezan Topaloğlu, Anne Sophie Lebre, Erkan Demirkaya et al. · PubMed · 2009 · 32 citations · Full text

Medicine, Hematology, Pediatrics +17

Stuve–Wiedemann syndrome: Is it underrecognized?

Gözde Yeşil, Anne Sophie Lebre, Sofia Dos Santos et al. · American Journal of Medical Genetics Part A · 2014 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17