Froissart R - Search Results

1

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

Laforêt P, Petiot P, Nicolino M, Orlikowski D, Caillaud C, Pellegrini N, Froissart R, Petitjean T, Maire I, Chabriat H, Hadrane L, Annane D, Eymard B. Laforêt P, et al. Among authors: froissart r. Neurology. 2008 May 27;70(22):2063-6. doi: 10.1212/01.wnl.0000313367.09469.13. Neurology. 2008. PMID: 18505979

2

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group. Semplicini C, et al. Among authors: froissart r. J Inherit Metab Dis. 2018 Nov;41(6):937-946. doi: 10.1007/s10545-018-0243-7. Epub 2018 Aug 28. J Inherit Metab Dis. 2018. PMID: 30155607

3

[Current development and usefulness of biomarkers for Gaucher disease follow up].

Maire I, Guffon N, Froissart R. Maire I, et al. Among authors: froissart r. Rev Med Interne. 2007 Oct;28 Suppl 2:S187-92. doi: 10.1016/s0248-8663(07)78880-x. Rev Med Interne. 2007. PMID: 18228687 Review. French.

4

[Contribution of genotyping in Fabry's disease].

Froissart R, Piraud M, Maire I. Froissart R, et al. Rev Med Interne. 2010 Dec;31 Suppl 2:S275-8. doi: 10.1016/S0248-8663(10)70027-8. Rev Med Interne. 2010. PMID: 21211679 French.

5

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. Mochel F, et al. Among authors: froissart r. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Ann Neurol. 2012. PMID: 23034915 Free PMC article.

6

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].

Piraud M, Maire I, Froissart R. Piraud M, et al. Among authors: froissart r. Rev Med Interne. 2010 Dec;31 Suppl 2:S270-4. doi: 10.1016/S0248-8663(10)70026-6. Rev Med Interne. 2010. PMID: 21211678 French.

7

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients.

Kraoua I, Sedel F, Caillaud C, Froissart R, Stirnemann J, Chaurand G, Flodrops H, Tari S, Gourfinkel-An I, Mathieu S, Belmatoug N, Billette de Villemeur T, Mignot C. Kraoua I, et al. Among authors: froissart r. Brain Dev. 2011 Feb;33(2):131-9. doi: 10.1016/j.braindev.2010.02.005. Epub 2010 Mar 21. Brain Dev. 2011. PMID: 20307947

8

Mucopolysaccharidosis type II: an update on mutation spectrum.

Froissart R, Da Silva IM, Maire I. Froissart R, et al. Acta Paediatr. 2007 Apr;96(455):71-7. doi: 10.1111/j.1651-2227.2007.00213.x. Acta Paediatr. 2007. PMID: 17391447 Review.

9

Germline and somatic mosaicism in a female carrier of Hunter disease.

Froissart R, Maire I, Bonnet V, Levade T, Bozon D. Froissart R, et al. J Med Genet. 1997 Feb;34(2):137-40. doi: 10.1136/jmg.34.2.137. J Med Genet. 1997. PMID: 9039991 Free PMC article.

10

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Froissart R, Cheillan D, Bouvier R, Tourret S, Bonnet V, Piraud M, Maire I. Froissart R, et al. J Med Genet. 2005 Nov;42(11):829-36. doi: 10.1136/jmg.2004.029744. Epub 2005 Apr 1. J Med Genet. 2005. PMID: 15805149 Free PMC article.

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