J. Puech

Juvenile and adult-onset acid maltase deficiency in France

Pascal Laforêt, Marc Nicolino, B. Eymard et al. · Neurology · 2000 · 215 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Maxime Boutry, Julien Branchu, Céline Lustremant et al. · Cell Reports · 2018 · 83 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

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

Marc Nicolino, J. Puech, Eric J. Kremer et al. · Human Molecular Genetics · 1998 · 46 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

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

Blandine Dozières‐Puyravel, Hala Nasser, Monique Elmaleh et al. · Developmental Medicine & Child Neurology · 2019 · 41 citations · Full text

Medicine, Neurology, Neuroscience +9