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Page 1
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: desguerre i. Eur J Hum Genet. 2004 Jun;12(6):483-8. doi: 10.1038/sj.ejhg.5201177. Eur J Hum Genet. 2004. PMID: 15054395
Opsoclonus-myoclonus in children associated or not with neuroblastoma.
Krug P, Schleiermacher G, Michon J, Valteau-Couanet D, Brisse H, Peuchmaur M, Sarnacki S, Martelli H, Desguerre I, Tardieu M. Krug P, et al. Among authors: desguerre i. Eur J Paediatr Neurol. 2010 Sep;14(5):400-9. doi: 10.1016/j.ejpn.2009.12.005. Epub 2010 Jan 27. Eur J Paediatr Neurol. 2010. PMID: 20110181
[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].
Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset JM, Sukno S, Peudenier S, Laroche C, Chabrier S, Sabouraud P, Vuillerot C, Chabrol B, Halbert C, Cancès C, Beze-Beyrie P, Ledivenah A, Viallard ML, Desguerre I. Barnérias C, et al. Among authors: desguerre i. Arch Pediatr. 2014 Apr;21(4):347-54. doi: 10.1016/j.arcped.2014.01.017. Epub 2014 Mar 12. Arch Pediatr. 2014. PMID: 24630620 French.
[Muscular dystrophies: From Duchenne to Becker].
Chabrol B, Desguerre I. Chabrol B, et al. Among authors: desguerre i. Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S1-2. doi: 10.1016/S0929-693X(16)30001-X. Arch Pediatr. 2015. PMID: 26773579 French. No abstract available.
Acute axonal neuropathy subtype of Guillain Barré syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies.
Chareyre J, Hully M, Simonnet H, Musset L, Barnerias C, Kossorotoff M, Quijano-Roy S, Desguerre I, Gitiaux C. Chareyre J, et al. Among authors: desguerre i. Eur J Paediatr Neurol. 2017 Nov;21(6):891-897. doi: 10.1016/j.ejpn.2017.07.005. Epub 2017 Jul 17. Eur J Paediatr Neurol. 2017. PMID: 28754297
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Kuster A, Arnoux JB, Barth M, Lamireau D, Houcinat N, Goizet C, Doray B, Gobin S, Schiff M, Cano A, Amsallem D, Barnerias C, Chaumette B, Plaze M, Slama A, Ioos C, Desguerre I, Lebre AS, de Lonlay P, Christa L; Individual contributors who contributed to this work. Kuster A, et al. Among authors: desguerre i. J Inherit Metab Dis. 2018 Jan;41(1):129-139. doi: 10.1007/s10545-017-0079-6. Epub 2017 Sep 18. J Inherit Metab Dis. 2018. PMID: 28924877
326 results