Author

Mercédes Pineda

Observed names: Mercedes Pineda, Pineda, Mercedes

Observed institutions: Universitat Autònoma de Barcelona, Hospital Sant Joan de Déu Barcelona, The Kids Research Institute Australia, The University of Western Australia, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Max Planck Institute for Molecular Genetics, Institut de Recerca Sant Joan de Déu, Universitat de Barcelona, University of Glasgow, University of Edinburgh

OpenAlex ID: A5111215065

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

2013 · Virginia Haurigot, Sara Marcó, et al. · Journal of Clinical Investigation · 223

PDF

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

2016 · Raquel Montero, Delia Yubero, et al. · PLoS ONE · 180

PDF

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

2016 · Adriana M Montaño, Ngu Lock-Hock, et al. · Journal of Medical Genetics · 168

Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia

2010 · Daniel Velasco-Sánchez, Asuncion Aracil, et al. · The Cerebellum · 146

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

2016 · Amanda Jefferson, Helen Leonard, et al. · PLoS ONE · 122

PDF

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

2020 · Marc C. Patterson, Eugen Mengel, et al. · Orphanet Journal of Rare Diseases · 98

PDF

Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

2013 · Sofia Temudo Duarte, Judith Armstrong, et al. · PLoS ONE · 93

PDF

CDKL5 variants

2017 · Ralph D. Hector, Vera M. Kalscheuer, et al. · Neurology Genetics · 83

PDF

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

2013 · Adeline Vanderver, Davide Tonduti, et al. · American Journal of Medical Genetics Part A · 81

Natural history of Sanfilippo syndrome in Spain

2013 · Verónica Delgadillo, Maria del O’Callaghan, et al. · Orphanet Journal of Rare Diseases · 77

PDF

Genistein supplementation in patients affected by Sanfilippo disease

2011 · Verónica Delgadillo, Maria del Mar O'Callaghan, et al. · Journal of Inherited Metabolic Disease · 74

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients

2004 · Esteban Ballestar, Santiago Ropero, et al. · Human Genetics · 71

Epilepsy in Rett syndrome—Lessons from the Rett networked database

2015 · Andreea Nissenkorn, Rachel S. Levy‐Drummer, et al. · Epilepsia · 62

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

2010 · Mercedes Serrano, María Teresa García-Silva, et al. · Mitochondrion · 59

Analysis of the Phenotypes in the Rett Networked Database

2019 · Elisa Frullanti, Filomena T. Papa, et al. · International Journal of Genomics · 52

PDF

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

2019 · Mercedes Pineda, Katarína Juríčková, et al. · Orphanet Journal of Rare Diseases · 51

PDF

Expanding the clinical phenotypes of MT-ATP6 mutations

2014 · Ester López-Gallardo, Sonia Emperador, et al. · Human Molecular Genetics · 50

PDF

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

2015 · Mauricio A. Sáez, Juana Fernández-Rodríguez, et al. · Genetics in Medicine · 46

PDF

Mitochondrial diseases mimicking neurotransmitter defects

2008 · Angels Garcia-Cazorla, Sofia Duarte, et al. · Mitochondrion · 44

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

2009 · Mercedes Serrano, Cecilia Martins, et al. · Journal of Child Neurology · 42

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

2016 · Eugen Mengel, Mercedes Pineda, et al. · Molecular Genetics and Metabolism · 40

PDF

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

2016 · Mercedes Pineda, Eugen Mengel, et al. · BMC Pediatrics · 33

PDF

A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)

2008 · María D. Herrero-Martín, Mercedes Pineda, et al. · Human Mutation · 27

PDF

Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNALys point mutations in mitochondrial DNA

2006 · Jordi P. Guallar, Maya R. Vilà, et al. · Molecular Genetics and Metabolism · 26

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

2016 · Sonia Emperador, M Pilar Bayona-Bafaluy, et al. · European Journal of Human Genetics · 25

PDF

Works count: 46

Citation count: 2,207

H-index: 25

I10-index: 37