Mercè Pineda Marfà

Cerebral Folate Deficiency Syndromes in Childhood

Belén Pérez‐Dueñas, Aída Ormazábal, Claudio Toma et al. · Archives of Neurology · 2011 · 67 citations

Life Sciences, Neurology, Neuroscience +17

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 <i>CREBBP‐</i>positive patients

Virginia Pérez‐Grijalba, María López, Judith Armstrong et al. · Molecular Genetics & Genomic Medicine · 2019 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

María‐Socorro Pérez‐Poyato, Montserrat Milà, Isidre Ferrer Abizanda et al. · Journal of Inherited Metabolic Disease · 2011 · 30 citations

Medicine, Neurology, Pathology +6

Reflex seizures in Rett syndrome

Ana Roche Martínez, M. Colmenero, Andréia Pereira et al. · Epileptic Disorders · 2011 · 28 citations · Full text

Medicine, Neurology, Neuroscience +13

Clinical and genetic analysis in alternating hemiplegia of childhood: Ten new patients from Southern Europe

Marta Vila‐Pueyo, Roser Pons, Miquel Raspall‐Chaure et al. · Journal of the Neurological Sciences · 2014 · 24 citations

Life Sciences, Genetics, Neurology +11