Search Results - "Ponsot, Gerard"

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus by Bonthron, David T, Lindahl, Tomas, Ali, Manir, Ponsot, Gerard, Robins, Peter, Voit, Thomas, van Bokhoven, Hans, Barnes, Deborah E, Livingston, John H, Massey, Roger F, Crow, Yanick J, Parmar, Rekha, Lebon, Pierre, Jackson, Andrew P, Hayward, Bruce E, Hamel, Ben C, Leitch, Andrea, Klepper, Joerg, Cowan, Frances M, Frints, Suzanne G, Black, Deborah N, Lynch, Sally Ann, Meritet, Jean François, Brunner, Han G, Corry, Peter C, Michaud, Jacques L

“…Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral…”
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Limits of Early Diagnosis of Herpes Simplex Encephalitis in Children: A Retrospective Study of 38 Cases by De Tiège, Xavier, Héron, Bénédicte, Lebon, Pierre, Ponsot, Gérard, Rozenberg, Flore

“…The prognosis of herpes simplex encephalitis (HSE) depends on the early and appropriate administration of specific antiviral therapy. We retrospectively…”
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Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10 by Keren, Boris, Jacquette, Aurélia, Depienne, Christel, Leite, Patricia, Durr, Alexandra, Carpentier, Wassila, Benyahia, Baya, Ponsot, Gerard, Soubrier, Florent, Brice, Alexis, Héron, Delphine

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MRI prognostic factors for relapse after acute CNS inflammatory demyelination in childhood by Mikaeloff, Yann, Adamsbaum, Catherine, Husson, Béatrice, Vallée, Louis, Ponsot, Gérard, Confavreux, Christian, Tardieu, Marc, Suissa, Samy

“…The prognostic factors for relapse of the initial MRI findings after a first episode of acute CNS inflammatory demyelination are unclear in children. In this…”
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Unexplained mental retardation: is brain MRI useful? by Decobert, Fabrice, Grabar, Sophie, Merzoug, Valerie, Kalifa, Gabriel, Ponsot, Gérard, Adamsbaum, Catherine, des Portes, Vincent

“…Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics. To evaluate the yield of brain MRI in the diagnostic…”
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Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia by Clot, Fabienne, Grabli, David, Cazeneuve, Cécile, Roze, Emmanuel, Castelnau, Pierre, Chabrol, Brigitte, Landrieu, Pierre, Nguyen, Karine, Ponsot, Gérard, Abada, Myriem, Doummar, Diane, Damier, Philippe, Gil, Roger, Thobois, Stéphane, Ward, Alana J., Hutchinson, Michael, Toutain, Annick, Picard, Fabienne, Camuzat, Agnès, Fedirko, Estelle, Sân, Chankannira, Bouteiller, Delphine, LeGuern, Eric, Durr, Alexandra, Vidailhet, Marie, Brice, Alexis

“…Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly…”
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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis by BARNERIAS, CHRISTINE, SAUDUBRAY, JEAN‐MARIE, TOUATI, GUY, DE LONLAY, PASCALE, DULAC, OLIVIER, PONSOT, GERARD, MARSAC, CÉCILE, BRIVET, MICHÈLE, DESGUERRE, ISABELLE

“…Aim  To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency. Method  Twenty‐two participants with enzymologically and…”
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Benefit of intravenous immunoglobulin in autoimmune stiff-person syndrome in a child by Mikaeloff, Yann, Jambaque, Isabelle, Mayer, Michele, Ponsot, Gerard, Kalifa, Gabriel, Carel, Jean-Claude

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First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability by Mikaeloff, Yann, Suissa, Samy, Vallée, Louis, Lubetzki, Catherine, Ponsot, Gérard, Confavreux, Christian, Tardieu, Marc, KIDMUS Study Group

“…To evaluate prognostic factors for second attack and for disability in children presenting with an initial episode of central nervous system (CNS)…”
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Génétique en pédiatrie by HERON, Delphine, PONSOT, Gérard

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Les stéréotypies chez l'enfant normal et pathologique: Mouvements anormaux paroxystiques non épileptiques du nouveau-né à l'adolescent by PONSOT, Gérard

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Orphan drugs and orphan diseases by Campos-Castelló, Jaime, Ponsot, Gerard, Feillet, François, Vidailhet, M, Maire, Irène

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Type 2 Gaucher disease: 15 new cases and review of the literature by Mignot, Cyril, Doummar, Diana, Maire, Irène, De Villemeur, Thierry Billette

“…Objectives: To provide a description of type 2 Gaucher disease. To attempt to define type 2 Gaucher disease within the spectrum of early-onset neuronopathic…”
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Childhood dermatomyositis: Clinical course of 36 patients treated with low doses of corticosteroids by Tabarki, Brahim, Ponsot, Gerard, Prieur, Anne-Marie, Tardieu, Marc

“…Thirty-six patients with juvenile dermatomyositis, seen consecutively between 1983 and 1996 and treated initially with low doses of corticosteroids…”
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IMAGERIE CÉRÉBRALE DE L'ENFANT by GAREL, Catherine, PONSOT, Gérard

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Agenesis of corpus callosum: prenatal diagnosis and prognosis by MOUTARD, Marie-Laure, KIEFFER, Virginie, PONSOT, Gérard, FEINGOLD, Josué, KIEFFER, Francois, LEWIN, Fanny, ADAMSBAUM, Catherine, GELOT, Antoinette, CAMPISTOL I PLANA, Jaume, VAN BOGAERT, Patrick, ANDRE, Monique

“…Agenesis of corpus callosum (ACC) is commonly diagnosed prenatally. When isolated, it appears to carry a good prognosis but studies are often retrospective and…”
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Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation by Rodriguez, Diana, Gauthier, Fernande, Bertini, Enrico, Bugiani, Marianna, Brenner, Michael, N'guyen, Sylvie, Goizet, Cyril, Gelot, Antoinette, Surtees, Robert, Pedespan, Jean-Michel, Hernandorena, Xavier, Troncoso, Monica, Uziel, Graziela, Messing, Albee, Ponsot, Gérard, Pham-Dinh, Danielle, Dautigny, André, Boespflug-Tanguy, Odile

“…Heterozygous, de novo mutations in the glial fibrillary acidic protein ( GFAP) gene have recently been reported in 12 patients affected by neuropathologically…”
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Interferon-β treatment in patients with childhood-onset multiple sclerosis by Mikaeloff, Yann, Moreau, Thibault, Debouverie, Marc, Pelletier, Jean, Lebrun, Christine, Gout, Olivier, Pedespan, Jean-Michel, Van Hulle, Catherine, Vermersch, Patrick, Ponsot, Gérard

“…We present a report of the use of interferon-β before 18 years of age in 16 patients with childhood-onset multiple sclerosis. This study demonstrated that the…”
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Herpes simplex encephalitis: diagnostic problems and late relapse by De Tiège, Xavier, Rozenberg, Flore, Burlot, Karine, Gaudelus, Joël, Ponsot, Gérard, Héron, Bénédicte

“…A 5-year-old female presented with prolonged afebrile right-sided focal seizures, right brachio-facial paralysis, and dysarthria; consciousness was not…”
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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) by des Portes, Vincent, Francis, Fiona, Pinard, Jean-Marc, Desguerre, Isabelle, Moutard, Marie-Laure, Snoeck, Irina, Meiners, Linda C., Capron, François, Cusmai, Raffaella, Ricci, Stefano, Motte, Jacques, Echenne, Bernard, Ponsot, Gérard, Dulac, Olivier, Chelly, Jamel, Beldjord, Cherif

“…Subcortical laminar heterotopia (SCLH), or ‘double cortex’, is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical…”
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