Puech JP - Search Results

1

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

Niemir N, Rouvière L, Besse A, Vanier MT, Dmytrus J, Marais T, Astord S, Puech JP, Panasyuk G, Cooper JD, Barkats M, Caillaud C. Niemir N, et al. Among authors: puech jp. Hum Mol Genet. 2018 Mar 15;27(6):954-968. doi: 10.1093/hmg/ddy012. Hum Mol Genet. 2018. PMID: 29325092

2

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

Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C. Gaignard P, et al. Among authors: puech jp. Gene. 2013 Jan 10;512(2):521-6. doi: 10.1016/j.gene.2012.09.124. Epub 2012 Oct 6. Gene. 2013. PMID: 23046579 Clinical Trial.

3

Prevention of neuropathology in the mouse model of Hurler syndrome.

Desmaris N, Verot L, Puech JP, Caillaud C, Vanier MT, Heard JM. Desmaris N, et al. Among authors: puech jp. Ann Neurol. 2004 Jul;56(1):68-76. doi: 10.1002/ana.20150. Ann Neurol. 2004. PMID: 15236403

4

Rapid identification of HEXA mutations in Tay-Sachs patients.

Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C. Giraud C, et al. Among authors: puech jp. Biochem Biophys Res Commun. 2010 Feb 19;392(4):599-602. doi: 10.1016/j.bbrc.2010.01.088. Epub 2010 Jan 25. Biochem Biophys Res Commun. 2010. PMID: 20100466

5

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.

Germain DP, Puech JP, Caillaud C, Kahn A, Poenaru L. Germain DP, et al. Among authors: puech jp. Am J Hum Genet. 1998 Aug;63(2):415-27. doi: 10.1086/301969. Am J Hum Genet. 1998. PMID: 9683600 Free PMC article.

6

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

Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Boutry M, et al. Among authors: puech jp. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098. Cell Rep. 2018. PMID: 29949766 Free PMC article.

7

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

Dozières-Puyravel B, Nasser H, Elmaleh-Bergès M, Lopez Hernandez E, Gelot A, Ilea A, Delanoë C, Puech JP, Caillaud C, Pichard S, Auvin S. Dozières-Puyravel B, et al. Among authors: puech jp. Dev Med Child Neurol. 2020 Apr;62(4):528-530. doi: 10.1111/dmcn.14346. Epub 2019 Sep 5. Dev Med Child Neurol. 2020. PMID: 31489614 Free article.

8

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Laforêt P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, Fardeau M. Laforêt P, et al. Among authors: puech jp. Neurology. 2000 Oct 24;55(8):1122-8. doi: 10.1212/wnl.55.8.1122. Neurology. 2000. PMID: 11071489

9

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

Martin-Touaux E, Puech JP, Château D, Emiliani C, Kremer EJ, Raben N, Tancini B, Orlacchio A, Kahn A, Poenaru L. Martin-Touaux E, et al. Among authors: puech jp. Hum Mol Genet. 2002 Jul 1;11(14):1637-45. doi: 10.1093/hmg/11.14.1637. Hum Mol Genet. 2002. PMID: 12075008

10

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.

Nicolino MP, Puech JP, Kremer EJ, Reuser AJ, Mbebi C, Verdière-Sahuqué M, Kahn A, Poenaru L. Nicolino MP, et al. Among authors: puech jp. Hum Mol Genet. 1998 Oct;7(11):1695-702. doi: 10.1093/hmg/7.11.1695. Hum Mol Genet. 1998. PMID: 9736771

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