-
1
المؤلفون: Mercedes Pineda, Blanca Felgueroso, Eduardo Ruiz-Pesini, Ester López-Gallardo, M. Pilar Bayona-Bafaluy, Iria Roca, Rafael Artuch, María L. Couce, Sonia Emperador, Julio Montoya, Ana Fernández-Marmiesse
المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instnameمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Ataxia, Mitochondrial translation, Biopsy, Peptide Chain Elongation, Translational, Short Report, Cardiomyopathy, Biology, medicine.disease_cause, DNA, Mitochondrial, Oxidative Phosphorylation, Mitochondrial Proteins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetics (clinical), Mutation, Muscles, Homozygote, food and beverages, Fibroblasts, Peptide Elongation Factors, medicine.disease, Phenotype, Human genetics, Mitochondria, Pedigree, 030104 developmental biology, Gene Expression Regulation, medicine.symptom, Cardiomyopathies, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe61c7ae0d7c9fd73641e1dd09789677Test
https://doi.org/10.1038/ejhg.2016.124Test -
2
المؤلفون: Eduardo Ruiz-Pesini, Elena Barraquer, Mercedes Pineda, Sonia Emperador, Laura Llobet, Paz Briones, Manuel J. López-Pérez, Julio Montoya, Ester López-Gallardo, Ivonne Jericó, Abelardo Solano, Rafael Artuch, Antonio Martín-Navarro
المصدر: Human Molecular Genetics. 23:6191-6200
مصطلحات موضوعية: Male, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, Respiratory chain, medicine.disease_cause, DNA, Mitochondrial, Human mitochondrial genetics, Genetics, medicine, Humans, Molecular Biology, Gene, Genetics (clinical), Mutation, biology, Mitochondrial Myopathies, General Medicine, Mitochondrial Proton-Translocating ATPases, medicine.disease, Phenotype, MT-ATP6, biology.protein, DNAJA3, Female, Leigh Disease, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b6d24e52f1a95c8118a7db46aa9848Test
https://doi.org/10.1093/hmg/ddu339Test -
3
المؤلفون: Ester López-Gallardo, Leticia Pias-Peleteiro, Pilar Bayona-Bafaluy, Alejandra Darling, Anna Codina, Plácido Navas, Eduardo Ruiz-Pesini, Angels García-Cazorla, Rafael Artuch, Frederic Tort, Julio Montoya, Cecilia Jimenez-Mallebrera, Juan Darío Ortigoza-Escobar, Antonia Ribes, Sonia Emperador, Andrés Nascimento, Cristina Jou, Delia Yubero, César Arjona, Mercedes Pineda, Judith Armstrong, Belén Pérez-Dueñas, Maria del Mar O’Callaghan, Francesc Palau, Laura Gort, Raquel Montero
المصدر: Journal of Clinical Medicine
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Volume 8
Issue 1
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Clinical Medicine, Vol 8, Iss 1, p 68 (2019)مصطلحات موضوعية: Weakness, Mitochondrial DNA, Pathology, medicine.medical_specialty, Mitochondrial disease, lcsh:Medicine, Exercise intolerance, Article, 03 medical and health sciences, biochemical markers, 0302 clinical medicine, muscle histopathology, medicine, Cytochrome c oxidase, Myopathy, 030304 developmental biology, next generation sequencing, mitochondrial diseases, 0303 health sciences, pediatric patients, biology, business.industry, lcsh:R, General Medicine, medicine.disease, Nuclear DNA, Cohort, biology.protein, medicine.symptom, business, 030217 neurology & neurosurgery, myopathy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ccd5045efa1224ac08119e00d8b565Test
https://doi.org/10.3390/jcm8010068Test -
4
المؤلفون: Jesús Ruberte, Luca Maggioni, Albert Ribera, Sònia Añor, Eduard Ayuso, Maria Molas, Sara Marcó, Martí Pumarola, Virginia Haurigot, Fatima Bosch, Anna Andaluz, Federico Mingozzi, Albert Ruzo, Mercedes Pineda, Miguel Garcia, Sergio Muñoz, Sandra Motas, Pilar Villacampa, Gemma García-Fructuoso
المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelonaمصطلحات موضوعية: biology, business.industry, Genetic enhancement, Mucopolysaccharidosis, Transgene, Sulfatase, Antibody titer, General Medicine, Pharmacology, medicine.disease, Viral vector, Immunology, medicine, biology.protein, Antibody, business, Mucopolysaccharidosis Type IIIA, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbcdb7ecc71012ec56147d5fda83daeTest
https://doi.org/10.1172/jci66778Test -
5
المؤلفون: Eduardo Ruiz-Pesini, Leonardo Salviati, Mercedes Pineda, María Alcázar-Fabra, Angela Gavilán, Julio Montoya, Ana Cortés, Sonia Emperador, Maria del Mar O’Callaghan, Paz Briones, Rafael Artuch, Claudio Asencio, Plácido Navas, Raquel Montero, M. A. C. Rodríguez-Hernández, Delia Yubero
المساهمون: Fondazione Cariplo, Universidad Pablo de Olavide, Instituto de Salud Carlos III, Università degli Studi di Padova
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: 0301 basic medicine, FIS1, Male, medicine.medical_specialty, Ubiquinone, Mitochondrial disease, Molecular Sequence Data, Pyruvate Dehydrogenase Complex, Biology, Mitochondrion, Base Sequence, Brain Diseases, Child, Child, Preschool, Fatal Outcome, Fibroblasts, Humans, Infant, Mitochondria, Muscle, Mutation, Skin, Genetics, Genetics (clinical), Article, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, medicine, Citrate synthase, Preschool, Coenzyme Q10, TFAM, medicine.disease, Pyruvate dehydrogenase complex, Mitochondria, 030104 developmental biology, Endocrinology, Biochemistry, chemistry, Lactic acidosis, biology.protein, Muscle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccba2e65bfe05285311ef2d37de1584Test
http://hdl.handle.net/10261/163404Test -
6
المؤلفون: Mercedes Serrano, Carlos Ortez, Jaime Campistol, Mercedes Pineda, E. Fernández-Álvarez, Angels García-Cazorla, Belén Pérez-Dueñas
المصدر: European Journal of Paediatric Neurology. 15:295-302
مصطلحات موضوعية: Nervous system, Pathology, medicine.medical_specialty, Pediatrics, Neurodegeneration with brain iron accumulation, Hypokinesia, Disease, Biology, Diagnosis, Differential, Parkinsonian Disorders, medicine, Humans, Child, Parkinsonism, Brain Diseases, Metabolic, Inborn, Syndrome, General Medicine, Hypoxia (medical), medicine.disease, Muscle Rigidity, medicine.anatomical_structure, Carbidopa, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Encephalitis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ffbed982d9e0759c7a0e47661c00147Test
https://doi.org/10.1016/j.ejpn.2011.04.013Test -
7
المؤلفون: Mercedes Pineda, M Szlago, A Chabás, Isaac Canals, IC Jaouad, Maria Josep Coll, Lluïsa Vilageliu, Siham Chafai Elalaoui, Daniel Grinberg, Verónica Delgadillo, Abdelaziz Sefiani
المصدر: Clinical Genetics. 80:367-374
مصطلحات موضوعية: Male, RNA Splicing, Gene Expression, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Mucopolysaccharidosis III, Acetyltransferases, Genetics, medicine, Humans, Missense mutation, Child, Gene, Alleles, Genetics (clinical), Sanfilippo syndrome, Mutation, Point mutation, Haplotype, Exons, medicine.disease, Introns, Haplotypes, Spain, Child, Preschool, Female, Minigene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85acb83b35fce1f88ec8c912c8d92bfaTest
https://doi.org/10.1111/j.1399-0004.2010.01525.xTest -
8
المؤلفون: Judith Armstrong, Stuart Cobb, Mercedes Pineda, Friederike Hennig, Mark E.S. Bailey, Jenny Downs, Helen Leonard, Tim A. Benke, Angus John Clarke, Vera M. Kalscheuer, Ralph D. Hector
المصدر: NEUROLOGY-GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Neurology Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Hector, R D, Kalscheuer, V M, Hennig, F, Leonard, H, Downs, J, Clarke, A, Benke, T A, Armstrong, J, Pineda, M, Bailey, M E S & Cobb, S R 2017, ' CDKL5 variants: improving our understanding of a rare neurological disorder ', Neurology Genetics, vol. 3, no. 6 . https://doi.org/10.1212/NXG.0000000000000200Testمصطلحات موضوعية: 0301 basic medicine, education.field_of_study, Population, CDKL5, Computational biology, Disease, Biology, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, RNA splicing, Genetic variation, Missense mutation, Neurology (clinical), education, Gene, 030217 neurology & neurosurgery, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac1d259bccaf2c1cb0284876ef3a3c4Test
https://doi.org/10.1212/nxg.0000000000000200Test -
9
المؤلفون: Eduardo Ruiz-Pesini, Mercedes Benac, Magdalena Carreras, Mercedes Pineda, Rafael Artuch, Julio Montoya, Manuel J. López-Pérez, Ester López-Gallardo, Maria Antonia Vilaseca, Miguel Angel Idoate, Paz Briones, Maria Dolores Herrero-Martín
المصدر: Human Mutation. 29:E112-E122
مصطلحات موضوعية: Mitochondrial DNA, Adolescent, Mitochondrial disease, Protein subunit, DNA Mutational Analysis, Biology, medicine.disease_cause, DNA, Mitochondrial, Electron Transport Complex IV, Intellectual Disability, Genetics, medicine, Humans, Missense mutation, Cytochrome c oxidase, Myopathy, Exercise, Genetics (clinical), Mutation, Cytochrome b, Muscles, Genetic Variation, medicine.disease, Molecular biology, Phenotype, biology.protein, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f8af7a319e307c3ff515ebe9c7ea4f2Test
https://doi.org/10.1002/humu.20800Test -
10
المؤلفون: Alison Anderson, Helen Leonard, N H de Klerk, Sue Fyfe, Alan K. Percy, Ami Bebbington, Bruria Ben-Zeev, Mercedes Pineda, David Ravine, N. Yatawara, Walter E. Kaufmann
المصدر: Neurology. 70:868-875
مصطلحات موضوعية: Adult, Internationality, Adolescent, Genotype, Methyl-CpG-Binding Protein 2, Population, Rett syndrome, Biology, medicine.disease_cause, MECP2, Developmental psychology, Cohort Studies, Neurodevelopmental disorder, Databases, Genetic, Rett Syndrome, medicine, Humans, Child, education, Genetics, Mutation, education.field_of_study, Infant, Middle Aged, medicine.disease, Phenotype, Research Design, Child, Preschool, Cohort, Female, Neurology (clinical), Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::debea066970e732032d85ff29f07705bTest
https://doi.org/10.1212/01.wnl.0000304752.50773.ecTest
