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

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

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
instname

مصطلحات 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

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

المؤلفون: M. A. Vilaseca, Mercedes Pineda, Rafael Artuch

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Male, medicine.medical_specialty, Erythrocytes, Vitamin K, Adolescent, Ubiquinone, Riboflavin, Mitochondrial disease, Lymphocyte, Respiratory chain, Ascorbic Acid, Pharmacology, Biology, Oxygen Consumption, Mitochondrial Encephalomyopathies, Carnitine, Genetics, medicine, Humans, Vitamin E, Lactic Acid, Lymphocytes, Tocopherol, Child, Genetics (clinical), Paediatric patients, Alanine, Clinical course, Infant, medicine.disease, Response to treatment, Surgery, medicine.anatomical_structure, Child, Preschool, Female, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6f07920c3b6277f34627faaa94776bTest
https://doi.org/10.1023/a:1005470702369Test

المؤلفون: Mercedes Pineda, Sofia T. Duarte, Pere Sala-Castellvi, Andrés Nascimento, Rafael Garesse, Julio Montoya, Angels García-Cazorla, Rafael Artuch, Ines Carrilho, Aida Ormazabal, Paz Briones, Mercedes Serrano

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Mitochondrial Diseases, Mitochondrial disease, Dopamine Agents, Hypomimia, Respiratory chain, Biology, Diagnosis, Differential, Levodopa, Consanguinity, Electron Transport Complex III, Cerebrospinal fluid, Hypokinesia, Internal medicine, medicine, Humans, Lactic Acid, Molecular Biology, Dystonia, Neurotransmitter Agents, Alanine, Electron Transport Complex I, Electron Transport Complex II, Infant, Newborn, Brain, Infant, Homovanillic Acid, Cell Biology, Hydroxyindoleacetic Acid, medicine.disease, Pterins, Radiography, Endocrinology, Treatment Outcome, Child, Preschool, Molecular Medicine, Female, medicine.symptom, Differential diagnosis, Myoclonus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69756a73c30e73d6621a18a951f736d7Test
https://pubmed.ncbi.nlm.nih.gov/18558519Test

المؤلفون: Joaquín Arenas, Edward V. Quadros, María Teresa García-Silva, A. Nascimento, Mercedes Pineda, Jeffrey M. Sequeira, Angeles Garcia-Cazorla, Rafael Artuch, Nenad Blau, Paz Briones, Aida Ormazabal, Vincent Ramaekers, Julio Montoya

المساهمون: University of Zurich, Garcia-Cazorla, A

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Mitochondrial Diseases, Ataxia, Adolescent, Mitochondrial disease, Encephalopathy, 610 Medicine & health, Folic Acid Deficiency, Gastroenterology, Mitochondrial myopathy, Internal medicine, medicine, Humans, Child, Stroke, Tetrahydrofolates, business.industry, Autoantibody, Brain, Infant, medicine.disease, Endocrinology, 2728 Neurology (clinical), 10036 Medical Clinic, Child, Preschool, Lactic acidosis, Female, Choroid plexus, Neurology (clinical), medicine.symptom, business

وصف الملف: Garcia-Cazorla_Neurology_2008-1.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5478faaa72c7a747976a53edbee6102eTest
https://www.zora.uzh.ch/id/eprint/4323Test/

المؤلفون: Ana Playán, Rafael Artuch, Antonio L. Andreu, Maria Antonia Vilaseca, Abelardo Solano, Julio Montoya, Jordi Casademont, Paz Briones, Mercedes Pineda, Jaime Colomer

المصدر: Pediatric research. 56(1)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mitochondrial DNA, Ataxia, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Lipomatosis, Biopsy, Cardiomyopathy, Neurological disorder, DNA, Mitochondrial, medicine, Humans, Point Mutation, Child, Muscle, Skeletal, Mitochondrial Encephalomyopathies, business.industry, Peripheral Nervous System Diseases, medicine.disease, Surgery, Pedigree, Peripheral neuropathy, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Polymorphism, Restriction Fragment Length

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f8c589d929f34db6a290535fbaed66Test
https://pubmed.ncbi.nlm.nih.gov/15128915Test

المؤلفون: Jaume Colomer, I Ferrer, Mercedes Pineda, P. Briones, A Chabás, María Teresa García-Silva, M. A. Vilaseca, Jaak Jaeken, J. Artigas

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 5(3)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Ataxia, Glycosylation, Adolescent, Mitochondrial disease, DNA Mutational Analysis, Biology, MELAS syndrome, Compound heterozygosity, Diagnosis, Differential, Consanguinity, Mitochondrial Encephalomyopathies, Retinitis pigmentosa, medicine, Humans, Leigh disease, Spinocerebellar Degenerations, Genetic Carrier Screening, Transferrin, General Medicine, medicine.disease, Phosphotransferases (Phosphomutases), Lactic acidosis, Child, Preschool, Pediatrics, Perinatology and Child Health, Acidosis, Lactic, Female, Neurology (clinical), medicine.symptom, Leigh Disease, Myoclonus, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1153e7f05a3950bfc78e72d713f0c79Test
https://pubmed.ncbi.nlm.nih.gov/11589167Test

المؤلفون: Julio Montoya, A. López de Munain, Paz Briones, Ana Playán, L Coelho-Miranda, Rafael Artuch, Jaume Coll-Cantí, J. Conill, A Sans, Jaume Colomer, Mercedes Pineda, M J Alcaine, Abelardo Solano, Maria Antonia Vilaseca

المصدر: Revista de Neurología. 31:804

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Mitochondrial DNA, Muscle biopsy, medicine.diagnostic_test, business.industry, Mitochondrial disease, General Medicine, medicine.disease, MELAS syndrome, Gastroenterology, Mitochondrial respiratory chain, Lactic acidosis, Internal medicine, Medicine, Neurology (clinical), Headaches, medicine.symptom, business, Myopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5e309a1dc4c5541d4e213fa093cd70e9Test
https://doi.org/10.33588/rn.3109.2000119Test