Chabrol B - Search Results

1

Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort.

Estublier B, Cano A, Hoebeke C, Pichard S, Scavarda D, Desguerre I, Auvin S, Chabrol B. Estublier B, et al. Among authors: chabrol b. Eur J Paediatr Neurol. 2021 Jan;30:17-21. doi: 10.1016/j.ejpn.2020.12.002. Epub 2020 Dec 8. Eur J Paediatr Neurol. 2021. PMID: 33348105

2

[Ceroid-lipofuscinosis: recent notions].

Chabrol B. Chabrol B. Arch Pediatr. 1997 Jul;4(7):671-5. doi: 10.1016/s0929-693x(97)83371-4. Arch Pediatr. 1997. PMID: 9295908 Review. French.

3

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.

Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Viollet L, et al. Among authors: chabrol b. Eur J Hum Genet. 2004 Jun;12(6):483-8. doi: 10.1038/sj.ejhg.5201177. Eur J Hum Genet. 2004. PMID: 15054395

4

[Metabolic diseases. Inherited metabolic diseases: importance of diagnosis].

Chabrol B, Cano A. Chabrol B, et al. Ann Biol Clin (Paris). 2006 Nov-Dec;64(6):581-2. Ann Biol Clin (Paris). 2006. PMID: 17256234 Free article. French. No abstract available.

5

[Fabry disease in childhood].

Chabrol B, Mansour H, Cano A. Chabrol B, et al. Presse Med. 2007 Mar;36 Spec No 1:1S32-5. Presse Med. 2007. PMID: 17546765 Review. French.

6

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome; Vialettes B. Cano A, et al. Among authors: chabrol b. Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809. Am J Med Genet A. 2007. PMID: 17568405

7

Effectiveness of early beta interferon on the first attack after confirmed multiple sclerosis: a comparative cohort study.

Mikaeloff Y, Caridade G, Tardieu M, Suissa S; KIDSEP study group of the French Neuropediatric Society. Mikaeloff Y, et al. Eur J Paediatr Neurol. 2008 May;12(3):205-9. doi: 10.1016/j.ejpn.2007.08.001. Epub 2007 Sep 19. Eur J Paediatr Neurol. 2008. PMID: 17881262

8

Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.

Cano A, Ovaert C, Vianey-Saban C, Chabrol B. Cano A, et al. Among authors: chabrol b. Pediatr Cardiol. 2008 Jan;29(1):163-5. doi: 10.1007/s00246-007-9051-9. Epub 2007 Oct 10. Pediatr Cardiol. 2008. PMID: 17926086

9

Aortic dilatation in Cockayne syndrome.

Ovaert C, Cano A, Chabrol B. Ovaert C, et al. Among authors: chabrol b. Am J Med Genet A. 2007 Nov 1;143A(21):2604-6. doi: 10.1002/ajmg.a.31986. Am J Med Genet A. 2007. PMID: 17935247

10

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. Chabrol B, et al. J Med Genet. 2008 May;45(5):314-8. doi: 10.1136/jmg.2007.055475. Epub 2008 Jan 30. J Med Genet. 2008. PMID: 18234729

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

343 results

Search Page

Filters