Author

Jean-Philippe Puech

Observed names: J. P. Puech, J.-P. Puech, J.P. Puech, JP Puech, Jean‐Philippe Puech

Institutions: Hôpital Necker-Enfants Malades, Inserm

Observed institutions: Hôpital Necker-Enfants Malades, Inserm, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Hôpital Broca, Health and Functional Exposomics, Institut de Myologie, Groupe Hospitalier Cochin - Port-Royal, Hôtel-Dieu, Broca - La Collégiale, Institut Cochin, Université Paris Descartes

OpenAlex ID: A5109399920

Juvenile and adult-onset acid maltase deficiency in France

2000 · P. Laforêt, M. Nicolino, et al. · Neurology · 216

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

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

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

2010 · Marie Abitbol, Jean-Laurent Thibaud, et al. · Proceedings of the National Academy of Sciences · 88

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration

2018 · Maxime Boutry, Julien Branchu, et al. · Cell Reports · 80

Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease

1995 · M. Cohen-Tannoudji, P. Marchand, et al. · Mammalian Genome · 67

Adenovirus-Mediated Transfer of the Acid -Glucosidase Gene into Fibroblasts, Myoblasts and Myotubes from Patients with Glycogen Storage Disease Type II Leads to High Level Expression of Enzyme and Corrects Glycogen Accumulation

1998 · M. P. Nicolino, J.-P. Puech, et al. · Human Molecular Genetics · 46

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

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

Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

2019 · Blandine Dozières‐Puyravel, Hala Nasser, et al. · Developmental Medicine & Child Neurology · 41

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

2012 · Pauline Gaignard, Jérôme Fagart, et al. · Gene · 23

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

2018 · Natalia Niemir, Laura Rouvière, et al. · Human Molecular Genetics · 16

Rapid identification of HEXA mutations in Tay-Sachs patients

2010 · Carole Giraud, Jeanne Dussau, et al. · Biochemical and Biophysical Research Communications · 7

Progrès récents dans le diagnostic génétique des céroïde-lipofuscinoses

2004 · C. Caillaud, J.-P. Puech, et al. · Revue Neurologique

Fabry disease: from clinical manifestations to molecular mechanisms

2002 · K Azibi, C Heltianu, et al. · Acta Paediatrica

Works count: 14

Citation count: 797

H-index: 10

I10-index: 10