Publications by authors named "Serge Rivera"

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Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Fanny Mochel, Domitille Gras, Marie-Pierre Luton, Manon Nizou, Donatella Giovannini, Serge Rivera

Neurology· June 2023

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Hypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures.
Martine Fohlen, Delphine Taussig, Jerry Blustajn, Serge Rivera, Tom Pieper

Childs Nerv Syst· October 2022

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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, Serge Rivera

J Med Genet· April 2022

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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Sébastien Cabasson, Julien Van-Gils, Frédéric Villéga, Marie-Thérèse Abi-Warde, Giulia Barcia, Serge Rivera

Eur J Paediatr Neurol· September 2020

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Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Dominique P Germain, Alain Fouilhoux, Stéphane Decramer, Marine Tardieu, Pascal Pillet, Serge Rivera

Clin Genet· August 2019

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Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency.
Sébastien Cabasson, Serge Rivera, Samir Mesli, Elisabeth Dulubac

J Pediatr· March 2015

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Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Eloisa Carta, Seo-Kyung Chung, Victoria M James, Angela Robinson, Jennifer L Gill, Serge Rivera

J Biol Chem· August 2012

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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Serge Rivera

PLoS Genet· February 2009

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Congenital hyperekplexia: five sporadic cases.
Serge Rivera, Frédéric Villega, Anne de Saint-Martin, Jacqueline Matis, Benoît Escande

Eur J Pediatr· February 2006

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Intramural bronchogenic cyst in the carina observed in a neonate and treated by needle aspiration: a case report.
Christophe Gaugler, Lionel Donato, Serge Rivera, Claire Langlet, Didier Chognot

J Perinatol· May 2004

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Neonatal necrotizing tracheobronchitis: three case reports.
Christophe Gaugler, Dominique Astruc, Lionel Donato, Serge Rivera, Claire Langlet

J Perinatol· April 2004

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