المؤلفون: Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor

المساهمون: Newcastle University [Newcastle], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University College of London [London] (UCL), Albert Einstein College of Medicine [New York], Universität Zürich [Zürich] = University of Zurich (UZH), University of Tübingen, University of Miami Leonard M. Miller School of Medicine (UMMSM), King‘s College London, Guy's and St Thomas' Hospital [London], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩

مصطلحات موضوعية: Male, metabolism [Muscle, Skeletal], Developmental Disabilities, [SDV]Life Sciences [q-bio], medicine.disease_cause, Autophagy-Related Protein 7, physiology [Autophagy-Related Protein 7], pathology [Muscle, Skeletal], 0302 clinical medicine, genetics [Nervous System Malformations], Cerebellum, Missense mutation, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, 0303 health sciences, Mutation, Atg7 protein, human, General Medicine, genetics [Ataxia], Phenotype, 3. Good health, Cell biology, genetics [Developmental Disabilities], Pedigree, Female, Intracellular, Adult, Adolescent, genetics [Autophagy], physiology [Autophagy], Mutation, Missense, Genes, Recessive, Nervous System Malformations, genetics [Abnormalities, Multiple], 03 medical and health sciences, genetics [Autophagy-Related Protein 7], medicine, Autophagy, Humans, Abnormalities, Multiple, Computer Simulation, ddc:610, Muscle, Skeletal, Gene, 030304 developmental biology, abnormalities [Face], business.industry, Infant, Fibroblasts, Embryonic stem cell, abnormalities [Cerebellum], Face, Ataxia, Perinatal lethal, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7Test

المؤلفون: Anna L. Guyatt, Angela Pyle, Patrick F. Chinnery, Heather J. Cordell, Santiago Rodriguez, Raimondo Ascione, Gavin Hudson, Rebecca R. Brennan, Kimberley Burrows, Debbie A Lawlor, Susan M. Ring, Tom R. Gaunt, Philip A. I. Guthrie

المساهمون: Apollo - University of Cambridge Repository, Chinnery, Patrick [0000-0002-7065-6617]

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-17 (2019)
Human Genomics
Guyatt, A L, Brennan, R R, Burrows, K, Guthrie, P A I, Ascione, R, Ring, S M, Gaunt, T R, Pyle, A, Cordell, H J, Lawlor, D A, Chinnery, P F, Hudson, G & Rodriguez, S 2019, ' A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts ', Human Genomics, vol. 13, no. 1, 6 . https://doi.org/10.1186/s40246-018-0190-2Test

مصطلحات موضوعية: Adult, Male, Genome-wide association study, Mitochondrial DNA, Adolescent, DNA Copy Number Variations, lcsh:QH426-470, In silico, lcsh:Medicine, Genomics, Locus (genetics), Single-nucleotide polymorphism, Biology, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Humans, Genetic epidemiology, Child, 030304 developmental biology, Genetic association, Genetics, 0303 health sciences, lcsh:R, Infant, Newborn, Middle Aged, ALSPAC, Complex traits, TFAM, lcsh:Genetics, Female, Primary Research, 030217 neurology & neurosurgery

وصف الملف: application/pdf; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d9bf098d7149352446bcccb9a554fcTest

المؤلفون: Florence Burté, Patrick Yu-Wai-Man, Angela Pyle, Michela Rugolo, Isabel Diebold, Maria Lucia Valentino, Stephanie Kleinle, Rita Horvath, Valerio Carelli, Rocco Liguori, Selena Trifunov, Jennifer Duff

المساهمون: Trifunov S., Pyle A., Valentino ML., Liguori R., Yu-Wai-Man P., Burté F., Duff J., Kleinle S., Diebold I., Rugolo M., Horvath R., Carelli V., Kleinle, Stephanie [0000-0003-0135-7143], Apollo - University of Cambridge Repository

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Biopsy, Muscle Fibers, Skeletal, Gene Dosage, lcsh:Medicine, Genome, Polymerase Chain Reaction, Oxidative Phosphorylation, GTP Phosphohydrolases, MYOPATHY, 0302 clinical medicine, Digital polymerase chain reaction, lcsh:Science, Microdissection, Sequence Deletion, Genetics, Multidisciplinary, Middle Aged, Phenotype, MITOCHONDRIAL DNA DELETION, Heteroplasmy, Succinate Dehydrogenase, OPA1 MUTATIONS, Female, FIBERS, Adult, Mitochondrial DNA, Adolescent, Mitochondrial disease, HUMAN OOCYTES, PHENOTYPES, Genes, Recessive, Biology, HUMAN SKELETAL MUSCLE, Gene dosage, DNA, Mitochondrial, Article, MECHANISMS, Electron Transport Complex IV, 03 medical and health sciences, Young Adult, medicine, Humans, Aged, Muscle Cells, OPTIC ATROPHY, lcsh:R, Reproducibility of Results, medicine.disease, MAINTENANCE, 030104 developmental biology, Mutation, lcsh:Q, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724a3102df67f66837e5cd5a056b9e36Test

المؤلفون: Helen Griffin, Thalia Antoniadi, Venkateswaran Ramesh, Rita Horvath, Teresinha Evangelista, Mark Greenslade, Anna Bradshaw, Edit Franko, Stephanie Kleinle, Hanns Lochmüller, Patrick F. Chinnery, B Bansagi, Hannah E. Steele, Natalie Forester, James Miller, Angela Pyle, Roger G. Whittaker, Veronika Boczonadi, Jennifer Duff

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

المصدر: Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neural Conduction, Electromyography, Disease, Article, Connexins, GTP Phosphohydrolases, Cohort Studies, Mitochondrial Proteins, 03 medical and health sciences, Genetic Heterogeneity, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, Medicine, Humans, Young adult, Exome sequencing, Aged, Family Health, Analysis of Variance, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Middle Aged, 3. Good health, 030104 developmental biology, England, Mutation, Demyelinating motor neuropathy, Female, Neurology (clinical), business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Myelin Proteins, Cohort study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3336587dc8fac66b450556b0f38426daTest
https://www.repository.cam.ac.uk/handle/1810/298183Test

المؤلفون: Shona Bennett, Jennifer Duff, Tania Smertenko, Patrick Yu Wai Man, Patrick F. Chinnery, Helen Griffin, Angela Pyle, Mauro Santibanez-Koref, Rita Horvath, Simon Zwolinski

المصدر: Journal of Neurogenetics. 27:176-182

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Biology, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genetics, medicine, Humans, Spinocerebellar Ataxias, Exome, Age of Onset, Heat-Shock Proteins, Exome sequencing, 030304 developmental biology, Comparative Genomic Hybridization, 0303 health sciences, Base Sequence, Genetic heterogeneity, Chromosome, Middle Aged, medicine.disease, Pedigree, Muscle Spasticity, Mutation, Mutation (genetic algorithm), Spinocerebellar ataxia, medicine.symptom, 030217 neurology & neurosurgery, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0b81dfb750961189092bb59b48b526Test
https://doi.org/10.3109/01677063.2013.831094Test

المؤلفون: Hubert J.M. Smeets, G. Van Camp, B.J.C. van den Bosch, A.M. Voets, Angela Pyle, Alexandra T.M. Hendrickx, Alphons P. M. Stassen, Patrick F. Chinnery, Debby M.E.I. Hellebrekers, E. Van Eyken, L. Van Laer, Simon Baudouin

المساهمون: Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction

المصدر: Mitochondrion
Mitochondrion, 11(6), 964-972. ELSEVIER SCI LTD

مصطلحات موضوعية: Adult, Mitochondrial DNA, Adolescent, Distribution, Biology, DNA, Mitochondrial, Article, Conserved sequence, Young Adult, RNA, Transfer, Pathogenicity, Humans, Child, Molecular Biology, Gene, Conserved Sequence, Aged, Sequence (medicine), Genetics, mtDNA control region, Protein coding, chemistry.chemical_classification, Polymorphism, Genetic, MitoChip, Infant, Sequence Analysis, DNA, Cell Biology, Middle Aged, Amino acid, mtDNA variants, chemistry, Child, Preschool, Transfer RNA, Nucleic Acid Conformation, Molecular Medicine, Human medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37bc27a5a5d87a8d2e1610ff13bb1c9aTest
https://doi.org/10.1016/j.mito.2011.09.003Test

المؤلفون: Hanns Lochmüller, Bertold Schrank, Rolf Stucka, Elke Holinski-Feder, Angela Abicht, Jürgen Seeger, Rita Horvath, Ulrich Lörcher, Solvig Müller-Ziermann, Angela Pyle, Birgit Czermin

المصدر: Neuromuscular Disorders. 20:720-724

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Respiratory Chain Deficiency, Cytochrome-c Oxidase Deficiency, Basal Ganglia, Electron Transport Complex IV, Sex Factors, Neuroimaging, Basal ganglia, Humans, Medicine, Cytochrome c oxidase, In patient, Child, Muscle, Skeletal, Gene, Genetics (clinical), Dystonia, biology, business.industry, Microfilament Proteins, medicine.disease, Magnetic Resonance Imaging, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), Leigh Disease, Cognition Disorders, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da54c9114ff4f6bc4ba73660a0aaafaeTest
https://doi.org/10.1016/j.nmd.2010.06.017Test

المؤلفون: Stephen Lynn, Patrick F. Chinnery, Lynsey M. Cree, Mark Walker, Sheila K Patel, Angela Pyle, Douglass M. Turnbull

المصدر: Diabetologia. 51:1440-1443

مصطلحات موضوعية: Adult, Aging, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Respiratory chain, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, law.invention, Islets of Langerhans, law, Internal medicine, Prevalence, Internal Medicine, medicine, Humans, Polymerase chain reaction, Aged, DNA Primers, Sequence Deletion, geography, geography.geographical_feature_category, Pancreatic islets, Insulin, Middle Aged, Islet, Endocrinology, medicine.anatomical_structure, Diabetes Mellitus, Type 2, Beta cell, Pancreas

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dc7fa6e09d81ae5524bc64a9acc4fd7Test
https://doi.org/10.1007/s00125-008-1054-4Test

المؤلفون: Patrick Yu Wai Man, Joanna L. Elson, Valerio Carelli, Chiara La Morgia, Gavin Hudson, Maria Lucia Valentino, Patrick F. Chinnery, Liesbeth Spruijt, Kirsi Huoponen, Alessandro Achilli, Neil Howell, Catherine Mowbray, Massimo Zeviani, Angela Pyle, Philip G. Griffiths, Rita Horvath, Eeva Nikoskelainen, Mike Gerards, Marja-Liisa Savontaus, René de Coo, Antonio Torroni, Solange Rios Salomão, Hubert J T Smeets, Rubens Belfort, Alfredo A. Sadun

المساهمون: Hudson G., Carelli V., Spruijt L., Gerards M., Mowbray C., Achilli A., Pyle A., Elson J., Howell N., La Morgia C., Valentino M.L., Huoponen K., Savontaus M.L., Nikoskelainen E., Sadun A.A., Salomao S.R., Belfort R. Jr, Griffiths P., Man P.Y., de Coo R.F., Horvath R., Zeviani M., Smeets H.J., Torroni A., Chinnery P.F., Neurology

المصدر: American Journal of Human Genetics, 81, 2, pp. 228-33
American Journal of Human Genetics, 81(2), 228-233. Cell Press
American Journal of Human Genetics, 81, 228-33

مصطلحات موضوعية: Male, genetic structures, Penetrance, Blindness, medicine.disease_cause, Haplogroup, 0302 clinical medicine, Gene Frequency, Risk Factors, Genetics(clinical), Genetics (clinical), Genetics, Adult, Female, Humans, Mutation, Optic Atrophy, Hereditary, Leber, Sex Factors, DNA, Mitochondrial, Genetic Variation, Haplotypes, Leber, 0303 health sciences, mtDNA, Mitochondrial, Hereditary, Mitochondrial DNA, Age-related aspects of cancer [ONCOL 2], Biology, Article, LHON, 03 medical and health sciences, Genetic variation, medicine, Allele frequency, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Haplotype, DNA, medicine.disease, eye diseases, Optic Atrophy, Genetic defects of metabolism [UMCN 5.1], Mitochondrial optic neuropathies, 030217 neurology & neurosurgery

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e91464f563b95f3561c2f7ca6a0ebdTest
https://doi.org/10.1086/519394Test

المؤلفون: David N, Herrmann, Rita, Horvath, Janet E, Sowden, Michael, Gonzalez, Michael, Gonzales, Avencia, Sanchez-Mejias, Zhuo, Guan, Roger G, Whittaker, Jorge L, Almodovar, Maria, Lane, Boglarka, Bansagi, Angela, Pyle, Veronika, Boczonadi, Hanns, Lochmüller, Helen, Griffin, Patrick F, Chinnery, Thomas E, Lloyd, J Troy, Littleton, Stephan, Zuchner

المساهمون: Massachusetts Institute of Technology. Department of Biology, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences, Picower Institute for Learning and Memory, Littleton, J. Troy, Guan, Zhuo

المصدر: Prof. Littleton

مصطلحات موضوعية: Male, Pathology, medicine.disease_cause, Synaptic Transmission, Synaptotagmin II, Missense mutation, Medicine, Genetics(clinical), Child, Genetics (clinical), Genes, Dominant, Genetics, Mutation, 0303 health sciences, 030305 genetics & heredity, Peripheral Nervous System Diseases, Middle Aged, Cell biology, 3. Good health, Pedigree, Synaptic vesicle exocytosis, Electrophysiology, Lambert-Eaton Myasthenic Syndrome, medicine.anatomical_structure, Drosophila, Female, Erratum, Lambert-Eaton myasthenic syndrome, Adult, medicine.medical_specialty, endocrine system, Adolescent, Biology, Neurotransmission, Synaptic vesicle, Neuromuscular junction, Synaptotagmin 1, Exocytosis, 03 medical and health sciences, Young Adult, Report, Animals, Humans, Motor Neuron Disease, 030304 developmental biology, Aged, business.industry, medicine.disease, Human genetics, Autosomal dominant form, business, Motor neuropathy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d71e9f753067c3308aba45fc083e3824Test
https://pubmed.ncbi.nlm.nih.gov/25192047Test