M. Pineda

Investigating genotype–phenotype relationships in Rett syndrome using an international data set

Ami Bebbington, Alison Anderson, David Ravine et al. · Neurology · 2008 · 240 citations

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

M. Pineda, J. E. Wraith, Eugen Mengel et al. · Molecular Genetics and Metabolism · 2009 · 192 citations

Clinical Epidemiology, Clinical Disease, Public Health +3

The effect of genotype on the natural history of eIF2B-related leukodystrophies

Anne Fogli, Raphael Schiffmann, Enrico Bertini et al. · Neurology · 2004 · 166 citations

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

C. Iturriaga, M. Pineda, E.M. Fernández-Valero et al. · Journal of the Neurological Sciences · 2006 · 148 citations

Niemann–pick C Disease, Inherited Metabolic Disease, Clinical Epidemiology +5

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

M. Pineda, María‐Socorro Pérez‐Poyato, Mar O’Callaghan et al. · Molecular Genetics and Metabolism · 2009 · 137 citations

Pediatric Neurosurgery, Pediatric Patients, Pediatrics +4