Sevin C - Search Results

1

Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate.

Colle MA, Piguet F, Bertrand L, Raoul S, Bieche I, Dubreil L, Sloothaak D, Bouquet C, Moullier P, Aubourg P, Cherel Y, Cartier N, Sevin C. Colle MA, et al. Among authors: sevin c. Hum Mol Genet. 2010 Jan 1;19(1):147-58. doi: 10.1093/hmg/ddp475. Hum Mol Genet. 2010. PMID: 19837699

2

Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study.

Sevin C, Hatteb S, Clément A, Bignami F, Chillotti L, Bugnard F, Bénard S, Boespflug-Tanguy O. Sevin C, et al. Orphanet J Rare Dis. 2023 Aug 10;18(1):238. doi: 10.1186/s13023-023-02843-x. Orphanet J Rare Dis. 2023. PMID: 37563635 Free PMC article.

3

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.

Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Among authors: sevin c. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.

4

Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Freihuber C, et al. Among authors: sevin c. Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. Orphanet J Rare Dis. 2023. PMID: 37480097 Free PMC article.

5

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.

Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI. Schoenmakers DH, et al. Among authors: sevin c. Orphanet J Rare Dis. 2024 Feb 7;19(1):46. doi: 10.1186/s13023-024-03075-3. Orphanet J Rare Dis. 2024. PMID: 38326898 Free PMC article.

6

Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.

Sevin C, Benraiss A, Van Dam D, Bonnin D, Nagels G, Verot L, Laurendeau I, Vidaud M, Gieselmann V, Vanier M, De Deyn PP, Aubourg P, Cartier N. Sevin C, et al. Hum Mol Genet. 2006 Jan 1;15(1):53-64. doi: 10.1093/hmg/ddi425. Epub 2005 Nov 25. Hum Mol Genet. 2006. PMID: 16311251

7

Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer.

Sevin C, Verot L, Benraiss A, Van Dam D, Bonnin D, Nagels G, Fouquet F, Gieselmann V, Vanier MT, De Deyn PP, Aubourg P, Cartier N. Sevin C, et al. Gene Ther. 2007 Mar;14(5):405-14. doi: 10.1038/sj.gt.3302883. Epub 2006 Nov 9. Gene Ther. 2007. PMID: 17093507

8

Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.

Sevin C, Aubourg P, Cartier N. Sevin C, et al. J Inherit Metab Dis. 2007 Apr;30(2):175-83. doi: 10.1007/s10545-007-0540-z. Epub 2007 Mar 8. J Inherit Metab Dis. 2007. PMID: 17347913 Review.

9

Gene therapy in metachromatic leukodystrophy.

Sevin C, Cartier-Lacave N, Aubourg P. Sevin C, et al. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S128-31. doi: 10.5414/cpp47128. Int J Clin Pharmacol Ther. 2009. PMID: 20040324 Review.

10

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

Sevin C, Ferdinandusse S, Waterham HR, Wanders RJ, Aubourg P. Sevin C, et al. Orphanet J Rare Dis. 2011 Mar 10;6:8. doi: 10.1186/1750-1172-6-8. Orphanet J Rare Dis. 2011. PMID: 21392394 Free PMC article.

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