Cristina Jou - Concepedia

Author

Cristina Jou

Hospital Sant Joan de Déu Barcelona ORCID

Also Known As

C Jou, C. Cristina Jou, C. Jou, Carmen Muñoz-Almagro, Cristina Jou, Juan Manuel Carretero

162

Publications

2.3K

Citations

H-Index

Concepts

All Affiliations

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

About

Cristina Jou is an author at Hospital Sant Joan de Déu Barcelona specializing in medicine, natural sciences, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	16	497
2	Natural Sciences	7	7	277
3	Biochemistry	3	3	126
4	Health Sciences	1	1	17
5	Biology	1	1	24

Cristina Jou

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction Raquel Montero, Dèlia Yubero, Joan Villarroya, PLoS ONE	2016	172
Similarities and differences between the immunopathogenesis of COVID-19–related pediatric multisystem inflammatory syndrome and Kawasaki disease Ana Esteve‐Solé, Jordi Antón, Rosa Pino, Journal of Clinical Investigation	2021	141
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies Susana G. Kalko, Sonia Paco, Cristina Jou, BMC Genomics	2014	122
<i> <scp>OXA</scp> 1L </i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect Kyle Thompson, Nicole Mai, Monika Oláhová, EMBO Molecular Medicine	2018	84
Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders Dèlia Yubero, Raquel Montero, Miguel A. Martı́n, Mitochondrion BiochemistryNatural SciencesInherited Metabolic DiseaseNon-oxphos DisordersMolecular Biology	2016	77
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, JCI Insight	2019	64
Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez, PLoS ONE GeneticsMolecular BiologyPathologyMolecular GeneticsDisease Gene Identification	2013	55
Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Journal of Inherited Metabolic Disease	2019	55
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Mitochondrion Mitochondrial FunctionGenetic DisorderNatural SciencesGeneticsDna Replication	2013	54
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy Jonàs Juan‐Mateu, Maria José Rodríguez, A. Nascimento, Orphanet Journal of Rare Diseases	2012	53

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