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Mercè Pineda
Observed names:
Merce Pineda,
Mercè Pineda,
Mercé Pineda,
Merçè Pineda,
Pineda, Mercè
Institutions:
Hospital Sant Joan de Déu Barcelona,
Institut de Recerca Sant Joan de Déu
Observed institutions:
Hospital Sant Joan de Déu Barcelona,
Instituto de Salud Carlos III,
Centre for Biomedical Network Research on Rare Diseases,
Sant Joan de Déu Research Foundation,
Institut de Recerca Sant Joan de Déu,
Universitat de Barcelona
show all 6
ORCID:
0000-0002-6817-9807
Observed ORCID:
0000-0002-6817-9807
OpenAlex ID:
A5111916726
Recommendations on the diagnosis and management of Niemann-Pick disease type C
2009
·
James E. Wraith
, Matthias R. Baumgartner
, et al.
·
Molecular Genetics and Metabolism
·
232
Disease and patient characteristics in NP-C patients: findings from an international disease registry
2013
·
Marc C Patterson
, Eugen Mengel
, et al.
·
Orphanet Journal of Rare Diseases
·
195
PDF
Miglustat in Niemann-Pick disease type C patients: a review
2018
·
Mercè Pineda
, Mark Walterfang
, et al.
·
Orphanet Journal of Rare Diseases
·
194
PDF
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
2009
·
Ángeles Rodríguez-Hernández
, Mario D. Cordero
, et al.
·
Autophagy
·
194
PDF
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
2005
·
Merce Pineda
, Aida Ormazabal
, et al.
·
Annals of Neurology
·
159
Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct
2000
·
Christiane Busquets
, Begoña Merinero
, et al.
·
Pediatric Research
·
132
Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis
2000
·
Leo W.J. Klomp
, Tom J. de Koning
, et al.
·
The American Journal of Human Genetics
·
113
PDF
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up
2008
·
Mercè Pineda
, Javier Arpa
, et al.
·
European Journal of Paediatric Neurology
·
101
Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation
2006
·
Rafael Artuch
, Gloria Brea-Calvo
, et al.
·
Journal of the Neurological Sciences
·
100
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
2015
·
On behalf of the NPC Registry investigators
, Marc C Patterson
, et al.
·
Orphanet Journal of Rare Diseases
·
97
PDF
Rett syndrome in Spain: mutation analysis and clinical correlations
2001
·
Eugènia Monrós
, Judith Armstrong
, et al.
·
Brain and Development
·
85
Oxidative stress in Rett syndrome
2001
·
Cristina Sierra
, Marı́a Antonia Vilaseca
, et al.
·
Brain and Development
·
79
Children With Stroke: Polymorphism of the MTHFR Gene, Mild Hyperhomocysteinemia, and Vitamin Status
2000
·
Esther Cardo
, Eugènia Monrós
, et al.
·
Journal of Child Neurology
·
79
Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening
2007
·
Angela Arias
, Marc Corbella
, et al.
·
Clinical Biochemistry
·
76
A novel mutation in JARID1C gene associated with mental retardation
2006
·
Cristina Santos
, Laia Rodriguez-Revenga
, et al.
·
European Journal of Human Genetics
·
74
Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
2016
·
Delia Yubero
, Raquel Montero
, et al.
·
Mitochondrion
·
72
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
2014
·
Ana Fernández-Marmiesse
, Marcos Morey
, et al.
·
Orphanet Journal of Rare Diseases
·
71
PDF
Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
2008
·
Raquel Montero
, José Antonio Sánchez-Alcázar
, et al.
·
Clinical Biochemistry
·
69
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
2016
·
Mario Lucariello
, Enrique Vidal
, et al.
·
Human Genetics
·
65
PDF
Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene
2000
·
M Antònia Vilaseca
, Eugènia Monrós
, et al.
·
European Journal of Paediatric Neurology
·
65
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
2019
·
Silvia Vidal
, Clara Xiol
, et al.
·
International Journal of Molecular Sciences
·
64
PDF
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
2007
·
Raquel Montero
, Mercé Pineda
, et al.
·
The Cerebellum
·
61
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
2001
·
Paz Briones
, M Antonia Vilaseca
, et al.
·
European Journal of Paediatric Neurology
·
59
Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up
2010
·
Merce Pineda
, Raquel Montero
, et al.
·
Movement Disorders
·
58
PDF
Classic rett syndrome in a boy as a result of somatic mosaicism for a mecp2 mutation
2001
·
Judith Armstrong
, Pilar Póo
, et al.
·
Annals of Neurology
·
56
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Works count:
96
Citation count:
3,684
H-index:
35
I10-index:
66
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