J. Puech

发表

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

A. Kahn, C. Caillaud, L. Poenaru, 1998, American journal of human genetics.

Prevention of neuropathology in the mouse model of hurler syndrome

C. Caillaud, M. Vanier, J. Heard, 2004, Annals of neurology.

Muscle as a putative producer of acid α-glucosidase for glycogenosis type II gene therapy

A. Orlacchio, C. Emiliani, A. Kahn, 2002 .

Identification of three novel mutations in Romanian patients with Fabry disease

C. Caillaud, C. Drugan, J. Puech, 2012 .

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

R. Wanders, P. Petit, E. Gottlieb, 2013, Biochimica et biophysica acta.

Adenovirus-mediated transfer of the acid alpha-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.

A. Kahn, A. Reuser, E. Kremer, 1998, Human molecular genetics.

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

J. Cooper, C. Caillaud, M. Vanier, 2018, Human molecular genetics.

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

P. Gressens, P. Marchand, P. Gressens, 1995, Mammalian Genome.

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

A. Durr, B. Colsch, A. Brice, 2003, Cell reports.

Rapid identification of HEXA mutations in Tay-Sachs patients.

C. Caillaud, F. Feillet, J. Puech, 2010, Biochemical and biophysical research communications.

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

C. Caillaud, P. Gaignard, J. Fagart, 2013, Gene.

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

S. Dréano, F. Pilot-Storck, J. Thibaud, 2010, Proceedings of the National Academy of Sciences.

Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.

A. Kahn, M. Fardeau, M. Nicolino, 1997, Biochemical and biophysical research communications.

Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy.

A. Orlacchio, C. Emiliani, A. Kahn, 2002, Human molecular genetics.

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

S. Auvin, A. Gelot, B. Dozières-Puyravel, 2020, Developmental Medicine & Child Neurology.