المؤلفون: Miguel A. Martín, Andrés Nascimento, D. Ram, Julio Montoya, Marcos Madruga-Garrido, Christoph Karch, Sandeep Jayawant, M Imelda Hughes, Patrick F. Chinnery, Maria Alice Donati, Joshua Kriger, Emanuele Barca, Yolanda Cámara, Michio Hirano, Robert W. Taylor, Robert Schoenaker, Pirjo Isohanni, Carlos Ortez, John L.P. Thompson, Carlos Lopez Gomez, Mariana Loos, Carl Fratter, Salvatore DiMauro, Karin Kleinsteuber, J. Domínguez-Carral, Monika Hofer, Anu Suomalainen, Jeffrey W. Ralph, Ewen W. Sommerville, Bruce Levin, Caterina Garone, Cristina Domínguez-González, Grainne S. Gorman, Robert McFarland, Julie Evans, Sonia Emperador, Yuelin Long, Adnan Y. Manzur, Shamima Rahman, Neil D Thomas, Joanna Poulton, Timothy Kerr, Anupam Chakrapani

المساهمون: Garone C., Taylor R.W., Nascimento A., Poulton J., Fratter C., Dominguez-Gonzalez C., Evans J.C., Loos M., Isohanni P., Suomalainen A., Ram D., Imelda Hughes M., McFarland R., Barca E., Gomez C.L., Jayawant S., Thomas N.D., Manzur A.Y., Kleinsteuber K., Martin M.A., Kerr T., Gorman G.S., Sommerville E.W., Chinnery P.F., Hofer M., Karch C., Ralph J., Camara Y., Madruga-Garrido M., Dominguez-Carral J., Ortez C., Emperador S., Montoya J., Chakrapani A., Kriger J.F., Schoenaker R., Levin B., Thompson J.L.P., Long Y., Rahman S., Donati M.A., Dimauro S., Hirano M., Doctoral Programme in Clinical Research, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Research Programme for Molecular Neurology, Children's Hospital, Clinicum, Lastenneurologian yksikkö, University of Helsinki, Doctoral Programme Brain & Mind, Neurologian yksikkö, Neuroscience Center, HUS Children and Adolescents, Lopez Gomez, Carlos [0000-0003-2699-451X], Martin, Miguel A [0000-0003-4741-772X], Apollo - University of Cambridge Repository

المصدر: JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Medical Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza

مصطلحات موضوعية: 0301 basic medicine, Oncology, metabolic disorder, Male, 0302 clinical medicine, Retrospective Studie, Medicine, Age of Onset, Child, Genetics (clinical), SPINAL MUSCULAR-ATROPHY, MYOPATHIC FORM, Facial weakness, metabolic disorders, MITOCHONDRIAL-DNA DEPLETION, Middle Aged, 3. Good health, Phenotypes, Phenotype, MTDNA DEPLETION, muscle disease, Child, Preschool, Female, Survival Analysi, medicine.symptom, clinical genetics, TK2 GENE, Natural history study, Human, Adult, medicine.medical_specialty, Weakness, Neuromuscular disease, Adolescent, Genes, Recessive, Genetic Association Studie, PATIENT, Thymidine Kinase, Ophthalmoparesis, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, Muscular Diseases, neuromuscular disease, Internal medicine, Genetics, Humans, Mitochondrial Protein, Genetic Predisposition to Disease, Genetic Testing, Myopathy, Muscle, Skeletal, Genetic Association Studies, Retrospective Studies, Aged, SPECTRUM, MUTATIONS, business.industry, Muscular Disease, clinical genetic, Infant, Newborn, Infant, Spinal muscular atrophy, medicine.disease, Survival Analysis, DELETIONS, 030104 developmental biology, DEFECT, Mutation, 3111 Biomedicine, Age of onset, business, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c6d7c39882cd9497d308fe08728e9cdTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14101Test

المؤلفون: Ute Pohl, Langping He, Andrew M. Schaefer, Robert McFarland, Emma L. Blakely, Grainne S. Gorman, Patrick F. Chinnery, Peter D. Turnpenny, Kate Craig, Joanna Poulton, Peter Lunt, Mark E. Roberts, Robert D S Pitceathly, C Smith, Matthew C. Jackson, Carl Fratter, Michael G. Hanna, Rita Horvath, Robert W. Taylor, Charlotte L. Alston, Julie Evans, Zarfishan Shabbir, Marcus Deschauer, Douglass M. Turnbull, John Taylor, Christopher A. Halfpenny

المساهمون: Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick [0000-0002-7065-6617], Apollo - University of Cambridge Repository

المصدر: Brain

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Heterozygote, Mitochondrial disease, Mutation, Missense, Cell Cycle Proteins, mitochondrial DNA, Biology, Compound heterozygosity, medicine.disease_cause, multiple mitochondrial DNA deletions, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Ribonucleotide Reductases, medicine, Humans, Myopathy, Muscle, Skeletal, 030304 developmental biology, Genetic testing, Aged, Aged, 80 and over, 0303 health sciences, Mutation, Brain Diseases, Muscle biopsy, medicine.diagnostic_test, Models, Genetic, mtDNA maintenance, mtDNA depletion, Multiple mitochondrial DNA deletions, Mitochondrial Myopathies, Original Articles, Neuromuscular Diseases, Middle Aged, RRM2B, medicine.disease, 3. Good health, Phenotype, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc92374732262811b5c7e4753d4941ccTest
https://www.repository.cam.ac.uk/handle/1810/290365Test