Jean-Philippe Puech

Barth syndrome: Cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation

François Gonzalvez, Marilena D’Aurelio, Marie Boutant et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2013 · 171 citations

Life Sciences, Cell Biology, Genetics +17

A canine <i>Arylsulfatase G</i> ( <i>ARSG</i> ) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis

Marie Abitbol, Jean‐Laurent Thibaud, Natasha J. Olby et al. · Proceedings of the National Academy of Sciences · 2010 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease

Dominique P. Germain, Jean-Philippe Puech, Catherine Caillaud et al. · The American Journal of Human Genetics · 1998 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients

Pauline Gaignard, Jérôme Fagart, Natalia Niemir et al. · Gene · 2012 · 22 citations

Life Sciences, Genetics, Molecular Genetics +7

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

Natalia Niemir, Laura Rouvière, Aurore Besse et al. · Human Molecular Genetics · 2018 · 17 citations · Full text

Life Sciences, Neurology, Neuroscience +17