Publications by authors named "Merce Pineda Marfa"

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New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Virginia Pérez-Grijalba, Alberto García-Oguiza, María López, Judith Armstrong, Sixto García-Miñaur, Mercé Pineda Marfa

Mol Genet Genomic Med· November 2019

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Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.
Marta Vila-Pueyo, Roser Pons, Miquel Raspall-Chaure, Anna Marcé-Grau, Oriel Carreño

J Neurol Sci· September 2014

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Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
María S Pérez-Poyato, Mercé Pineda Marfa, Isidre Ferrer Abizanda, Laia Rodriguez-Revenga, Victoria Cusí Sánchez

J Child Neurol· April 2013

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Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.
María Socorro Pérez-Poyato, M Mar O'Callaghan Gordo, Mercé Pineda Marfa

Gene· September 2012

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Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
Maria Socorro Pérez Poyato, Montserrat Milá Recansens, Isidre Ferrer Abizanda, Rosario Domingo Jiménez, Amparo López Lafuente, Mercé Pineda Marfa

Gene· May 2012

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[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
María del Socorro Pérez-Poyato, Montserrat Milà-Recasens, Isidre Ferrer-Abizanda, Victoria Cusí-Sánchez, María Vázquez-López

Rev Neurol· May 2012

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Reflex seizures in Rett syndrome.
Ana Roche Martínez, M Itziar Alonso Colmenero, Andreia Gomes Pereira, Francesc X Sanmartí Vilaplana, Judith Armstrong Morón, Mercé Pineda Marfa

Epileptic Disord· December 2011

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Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
María-Socorro Pérez-Poyato, Montserrat Milà Recansens, Isidre Ferrer Abizanda, Raquel Montero Sánchez, Laia Rodríguez-Revenga

J Inherit Metab Dis· October 2011

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Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.
Belén Pérez-Dueñas, Aida Ormazábal, Claudio Toma, Barbara Torrico, Bru Cormand, Merce Pineda Marfa

Arch Neurol· May 2011

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