Search Results - "Prats Viñas, José María"

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    Shapiro Shulman Syndrome: A Forgotten Condition by Prats Viñas, José María, MD, Suinaga Errasti, Isabel, MD, Blanco Lago, Raquel, MD

    Published in Pediatric neurology (01-04-2011)
    “…We report on a girl with cutaneous angioma and hydrocephalus who presented the characteristics of the condition described by Shapiro and Shulman. At birth, she…”
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    Journal Article
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    Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects by Vaurs-Barrière, Catherine, Deville, Marlène, Sarret, Catherine, Giraud, Geneviève, Des Portes, Vincent, Prats-Viñas, José-Maria, De Michele, Giuseppe, Dan, Bernard, Brady, Angela F., Boespflug-Tanguy, Odile, Touraine, Renaud

    Published in Annals of neurology (01-01-2009)
    “…Pelizaeus–Merzbacher Disease is an X‐linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53…”
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    Journal Article
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    Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy? by Viñas, Jose Maria Prats, Gonzalez, María Jesús Martinez, Ribes, Ainhoa Garcia, Gonzalez, Sonia Martinez, Fernandez, Ricardo Martinez

    Published in Developmental medicine and child neurology (01-06-2005)
    “…Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all…”
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    Journal Article
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    Suspected Herpes Encephalitis and Opercular Syndrome in Childhood by García-Ribes, Ainhoa, MD, Martínez-González, María Jesús, MD, Prats-Viñas, Jose María, MD

    Published in Pediatric neurology (01-03-2007)
    “…Herpes simplex encephalitis is the most common form of sporadic viral encephalitis. It may occur at any age, giving rise to a syndrome with a high morbidity…”
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    Journal Article
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