M. Pineda - Concepedia

Author

M. Pineda

Hospital Sant Joan de Déu Barcelona ORCID

Also Known As

M Pineda, M Pineda Marfa, M. PINEDA, M. Pineda, M. Pineda Marfa, M. Pineda Marfà, M. Pineda Marfá, Mercedes Pineda, Mercedes Pineda Marfa, Mercè Pineda Marfà

Publications

2.6K

Citations

H-Index

Concepts

All Affiliations

Hospital Sant Joan de Déu Barcelona Centre for Biomedical Network Research on Rare Diseases Universitat de Barcelona Inserm Instituto de Salud Carlos III

About

M. Pineda is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, neuropathology, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	19	1.1K
2	Social Sciences	4	4	180
3	Public Health	3	3	286
4	Health Sciences	2	2	94
5	Anatomy	2	2	39

M. Pineda

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
Investigating genotype–phenotype relationships in Rett syndrome using an international data set Ami Bebbington, Alison Anderson, David Ravine, Neurology	2008	240
Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study M. Pineda, J. E. Wraith, Eugen Mengel, Molecular Genetics and Metabolism Clinical EpidemiologyClinical DiseasePublic HealthDisease AssessmentMedicine	2009	192
The effect of genotype on the natural history of eIF2B-related leukodystrophies Anne Fogli, Raphael Schiffmann, Enrico Bertini, Neurology	2004	166
Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale C. Iturriaga, M. Pineda, E.M. Fernández-Valero, Journal of the Neurological Sciences Niemann–pick C DiseaseInherited Metabolic DiseaseClinical EpidemiologyPathologyClinical Disease	2006	148
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, Molecular Genetics and Metabolism Pediatric NeurosurgeryPediatric PatientsPediatricsCase SeriesMiglustat Therapy	2009	137
Abnormal local-circuit neurons in epilepsia partialis continua associated with focal cortical dysplasia Isidró Ferrer, M. Pineda, M Tallada, Acta Neuropathologica Neurobiology Of DiseaseAbnormal Local-circuit NeuronsNeurophysiologyNeuroanatomyNeurological Function	1992	134
Identification of 25 new mutations in 40 unrelated Spanish Niemann‐Pick type C patients: genotype‐phenotype correlations E.M. Fernández-Valero, A Ballart, C. Iturriaga, Clinical Genetics	2005	97
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study Peter Bauer, David J. Balding, Hans H. Klünemann, Human Molecular Genetics	2013	82
Hypomyelination and Reversible White Matter Attenuation in 3-Phosphoglycerate Dehydrogenase Deficiency Tom J. de Koning, J. Jaeken, M. Pineda, Neuropediatrics	2000	78
Updating the profile of C-terminal <i>MECP2</i> deletions in Rett syndrome Ami Bebbington, Alan K. Percy, John Christodoulou, Journal of Medical Genetics	2009	69

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