Roulet-Perez E - Search Results

1

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Jequier Gygax M, et al. Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Eur J Pediatr. 2009. PMID: 19005678 Review.

2

Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.

Rimella-Le-Huu A, Henry H, Kern I, Hanquinet S, Roulet-Perez E, Newman CJ, Superti-Furga A, Bonafé L, Ballhausen D. Rimella-Le-Huu A, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S381-6. doi: 10.1007/s10545-008-0959-x. Epub 2008 Aug 9. J Inherit Metab Dis. 2008. PMID: 18679822

3

Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.

Roulet-Perez E, Ballhausen D, Bonafé L, Cronel-Ohayon S, Maeder-Ingvar M. Roulet-Perez E, et al. Epilepsia. 2008 Nov;49(11):1955-8. doi: 10.1111/j.1528-1167.2008.01654.x. Epub 2008 May 9. Epilepsia. 2008. PMID: 18479384 Free article.

4

Progressive unilateral hemispheric atrophy in an infant with neurofibromatosis.

Wintermark P, Meagher-Villemure K, Villemure JG, Maeder-Ingvar M, Maeder P, Ghariani S, Roulet-Perez E. Wintermark P, et al. Neuropediatrics. 2007 Apr;38(2):100-4. doi: 10.1055/s-2007-985139. Neuropediatrics. 2007. PMID: 17712739

5

Acute infantile encephalopathy predominantly affecting the frontal lobe (AIEF): a European case.

Jequier Gygax M, Deonna T, Maeder P, Mayor-Dubois C, Roulet-Perez E. Jequier Gygax M, et al. Eur J Paediatr Neurol. 2011 Mar;15(2):158-62. doi: 10.1016/j.ejpn.2010.08.001. Epub 2010 Sep 1. Eur J Paediatr Neurol. 2011. PMID: 20810296

6

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Lebon S, Suarez P, Alija S, Korff CM, Fluss J, Mercati D, Datta AN, Poloni C, Marcoz JP, Campos-Xavier AB, Bonafé L, Roulet-Perez E. Lebon S, et al. Eur J Paediatr Neurol. 2015 Mar;19(2):170-5. doi: 10.1016/j.ejpn.2014.11.009. Epub 2014 Dec 11. Eur J Paediatr Neurol. 2015. PMID: 25532859

7

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E. García Segarra N, et al. J Neurol Sci. 2014 Jul 15;342(1-2):69-78. doi: 10.1016/j.jns.2014.04.027. Epub 2014 Apr 27. J Neurol Sci. 2014. PMID: 24836863

8

[Genetics of childhood epilepsies: for who? how? why?].

Lebon S, Campos-Xavier B, Bonafé L, Roulet-Perez E. Lebon S, et al. Rev Med Suisse. 2014 Jan 15;10(412-413):110-1. Rev Med Suisse. 2014. PMID: 24558911 French.

9

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

Bastos F, Quinodoz M, Addor MC, Royer-Bertrand B, Fodstad H, Rivolta C, Poloni C, Superti-Furga A, Roulet-Perez E, Lebon S. Bastos F, et al. BMC Neurol. 2020 Jan 13;20(1):17. doi: 10.1186/s12883-019-1586-x. BMC Neurol. 2020. PMID: 31931739 Free PMC article. Review.

10

Cerebellar lesions in pediatric abusive head trauma.

Haas-Lude K, Roulet-Perez E, Döbler-Neumann M, Groeschel S, Nägele T, Krägeloh-Mann I. Haas-Lude K, et al. Eur J Paediatr Neurol. 2019 Jul;23(4):604-608. doi: 10.1016/j.ejpn.2019.05.001. Epub 2019 May 17. Eur J Paediatr Neurol. 2019. PMID: 31147107

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