Publications by authors named "Emmanuel Raffo"

16Publications

Ketogenic diet: a pharmaceutical guide for the management of drug therapy in the pediatric population.

Int J Clin Pharm 2020 Apr 17;42(2):326-330. Epub 2020 Mar 17.

Pharmacie, Centre Hospitalier Régional Universitaire de Nancy, Allée du Morvan, 54511, Vandœuvre-lès-Nancy Cedex, France.

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http://dx.doi.org/10.1007/s11096-020-01013-4DOI Listing
April 2020

Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.

Mult Scler 2017 01 11;23(1):119-122. Epub 2016 Jul 11.

Pediatric Neurology Unit, Children's Hospital, University Hospital of Nancy, Vandoeuvre-lès-Nancy, France.

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http://dx.doi.org/10.1177/1352458516646087DOI Listing
January 2017

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Hum Mol Genet 2015 Jan 8;24(2):463-70. Epub 2014 Sep 8.

INSERM U827, Montpellier F-34000, France Université Montpellier I, Montpellier F-34000, France Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire (CHU) Montpellier, Montpellier F-34000, France Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964/CNRS UMR7104/Université de Strasbourg, Illkirch, France

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http://hmg.oxfordjournals.org/content/early/2014/09/08/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu461
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http://dx.doi.org/10.1093/hmg/ddu461DOI Listing
January 2015

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085634PMC
July 2014

A pulse rapamycin therapy for infantile spasms and associated cognitive decline.

Neurobiol Dis 2011 Aug 12;43(2):322-9. Epub 2011 Apr 12.

Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Bronx NY 10461, USA.

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http://dx.doi.org/10.1016/j.nbd.2011.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114281PMC
August 2011

Modeling new therapies for infantile spasms.

Epilepsia 2010 Jul;51 Suppl 3:27-33

Saul R Korey Department of Neurology and Montefiore/Einstein Epilepsy Management Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909007PMC
http://dx.doi.org/10.1111/j.1528-1167.2010.02605.xDOI Listing
July 2010

Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment.

Epilepsia 2010 Apr 12;51(4):708-11. Epub 2010 Feb 12.

Service de Neurologie, Centre Hospitalier Universitaire de Nancy, Nancy, France.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02498.xDOI Listing
April 2010

A model of symptomatic infantile spasms syndrome.

Neurobiol Dis 2010 Mar 26;37(3):604-12. Epub 2009 Nov 26.

Saul R. Korey Department of Neurology, Laboratory of Developmental Neurology, and Montefiore/Einstein Epilepsy Management Center, USA.

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http://dx.doi.org/10.1016/j.nbd.2009.11.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824012PMC
March 2010

Bitemporal form of partial reading epilepsy: further evidence for an idiopathic localization-related syndrome.

Epilepsia 2010 Jan 8;51(1):165-9. Epub 2009 Aug 8.

Service de Neurologie, Hôpital Central, CHU de Nancy, France.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02247.xDOI Listing
January 2010

Neurobehavioral maturation of offspring from epileptic dams: study in the rat lithium-pilocarpine model.

Exp Neurol 2009 Oct 26;219(2):414-23. Epub 2009 Jun 26.

INSERM U 398, Faculty of Medicine, Strasbourg, France.

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http://dx.doi.org/10.1016/j.expneurol.2009.06.014DOI Listing
October 2009