المؤلفون: Alexander Bury, Angela Pyle, Amy E. Vincent, Paolo Actis, Gavin Hudson

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/6b1d862bea684ac68d6b137d301b38ceTest

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

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Mitochondrial DNA, ALSPAC, Genome-wide association study, Complex traits, Genetic epidemiology, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s40246-018-0190-2Test; https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/95d496379dc34161a648e6aacd65523eTest

المؤلفون: Liani Devito, Afshan N. Malik, Preeti Khurana, Nikola Kolundzic, Vladimir M. Jovanović, Norah M. E. Fogarty, Dusko Ilic, Russell A. Foulk, Shirin Elizabeth Khorsandi, Hannah S. Rosa, Kathy K. Niakan, Gnanaratnam Giritharan, Caroline Mackie Ogilvie, Mohammad Saleh Ardawi, Laila Noli, Nigel Heaton, Patrick F. Chinnery, Angela Pyle, Yacoub Khalaf, Aleksandra Cvoro, Antonio Capalbo

المصدر: Stem Cells (Dayton, Ohio)

مصطلحات موضوعية: 0301 basic medicine, Thyroid Hormones, oxidative phosphorylation, Respiratory chain, Mitochondrion, Biology, 7. Clean energy, Embryonic Stem Cells/Induced Pluripotent Stem Cells, Andrology, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Inner cell mass, Blastocyst, Triiodothyronine, Thyroid, embryo development, Embryo, Cell Biology, T3, thyroid hormone, mitochondria, 030104 developmental biology, medicine.anatomical_structure, embryonic structures, Molecular Medicine, Female, 030217 neurology & neurosurgery, Developmental Biology, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32e660a3bd86eab1311bd44bf6f8832bTest
https://doi.org/10.1002/stem.3129Test

المؤلفون: Aurora Pujol, Sarah C. Grünert, Leigh B. Waddell, Cecilia Jimenez-Mallebrera, Ana Töpf, Frances J. Evesson, Antonia Ribes, Carlos Ortez, Daniel McArthur, Sandra T. Cooper, Charlotte L. Alston, Delia Yubero, Georgia Sarquella, Saikat Santra, Janbernd Kirschner, Agatha Schlüter, Rita Horvath, Kyle Thompson, Nicolai Kohlschmidt, Michael Champion, Hanns Lochmüller, Robert W. Taylor, Claudia Gross, Gina L. O’Grady, Maria del Mar O’Callaghan, Efsthatia Chronopoulou, M. A. Preece, Andrés Nascimento, Majumdar Anirban, Christian Turner, Denisa Hathazi, Germaine Pierre, Frederic Tort, Nadja Mingirulli, Raquel Montero, Sergei Korenev, Angela Pyle, Jennifer Duff, Andreas Roos, Angels García-Cazorla, Rafael Artuch, Plácido Navas, Cristina Jou

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Generalitat de Catalunya, Association Française contre les Myopathies, European Research Council, European Commission, Fundació La Marató de TV3, Instituto de Salud Carlos III, Medical Research Council (UK), National Institute for Health Research (UK), Wellcome Trust

المصدر: Journal of Inherited Metabolic Disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mingirulli, N, Pyle, A, Hathazi, D, Alston, C L, Kohlschmidt, N, O'Grady, G, Waddell, L, Evesson, F, Cooper, S B T, Turner, C, Duff, J, Topf, A, Yubero, D, Jou, C, Nascimento, A, Ortez, C, García-Cazorla, A, Gross, C, O'Callaghan, M, Santra, S, Preece, M A, Champion, M, Korenev, S, Chronopoulou, E, Anirban, M, Pierre, G, McArthur, D, Thompson, K, Navas, P, Ribes, A, Tort, F, Schlüter, A, Pujol, A, Montero, R, Sarquella, G, Lochmüller, H, Jiménez-Mallebrera, C, Taylor, R W, Artuch, R, Kirschner, J, Grünert, S C, Roos, A & Horvath, R 2020, ' Clinical presentation and proteomic signature of patients with TANGO2 mutations ', Journal of Inherited Metabolic Disease, vol. 43, no. 2, pp. 297-308 . https://doi.org/10.1002/jimd.12156Test
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: metabolic encephalomyopathy, Male, Proteomics, Mitochondrial Diseases, Fisiologia patològica, Respiratory chain, Medizin, Golgi Apparatus, TANGO2, Oxidative Phosphorylation, Rhabdomyolysis, fatty acid metabolism, Cognitive decline, Pathological physiology, health care economics and organizations, Genetics (clinical), chemistry.chemical_classification, 0303 health sciences, Muscle Weakness, Brain Diseases, Metabolic, 030305 genetics & heredity, Metabolic disorder, Fatty Acids, Homozygote, Errors congènits del metabolisme, proteomic analysis, 3. Good health, medicine.anatomical_structure, Phenotype, Lactic acidosis, Original Article, Female, education, Oxidative phosphorylation, Inborn errors of metabolism, Biology, 03 medical and health sciences, mitochondrial dysfunction, Genetics, medicine, Humans, rhabdomyolysis, 030304 developmental biology, Whole Genome Sequencing, Skeletal muscle, Infant, Original Articles, medicine.disease, Molecular biology, Enzyme, Membrane protein, chemistry, Mutation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b0430fb79fe65dede4704cce78c6bcTest
http://europepmc.org/articles/PMC7078914Test

المؤلفون: R Mishra, Mariya Moosajee, G Cairns, Patrick Yu-Wai-Man, Maria Toms, Angela Pyle, Florence Burté, R Price, J A Sayer, E O'Connor

المساهمون: Apollo - University of Cambridge Repository, Yu Wai Man, Patrick [0000-0001-7847-9320]

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Wolfram syndrome, Science, Mutant, Retinal ganglion, Gene Knockout Techniques, 03 medical and health sciences, 631/208, 0302 clinical medicine, Atrophy, Downregulation and upregulation, Internal medicine, Genetics, medicine, Animals, Eye diseases, Zebrafish, 030304 developmental biology, 0303 health sciences, Multidisciplinary, biology, Endoplasmic reticulum, article, Membrane Proteins, Wolfram Syndrome, medicine.disease, biology.organism_classification, 3. Good health, Disease Models, Animal, Optic Atrophy, Endocrinology, Codon, Nonsense, Mutation, Unfolded Protein Response, Unfolded protein response, 692/699/3161, Medicine, 030217 neurology & neurosurgery

وصف الملف: application/zip; application/pdf; text/xml; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a03ad437b5fae7ab92706cc925fb86Test
https://www.repository.cam.ac.uk/handle/1810/329488Test

المؤلفون: Gavin Hudson, Hannah Lowes, Jonathan Coxhead, Angela Pyle, David J. Burn, Fiona Robertson, Mauro Santibanez-Koref, Alison J. Yarnall, Rafiqul Hussain, Brendan A I Payne

المصدر: Movement Disorders

مصطلحات موضوعية: 2019-20 coronavirus outbreak, Parkinson's disease, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Clinical Neurology, Parkinson Disease, CD13 Antigens, medicine.disease, Virology, Human coronavirus, Neurology, Carrier protein, Humans, Medicine, Neurology (clinical), Carrier Proteins, business, Receptor, Receptors, Coronavirus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a55e466d77817cd871b287a638048f75Test
https://doi.org/10.1002/mds.28354Test

المؤلفون: Husain Ra, Thomas Meitinger, Wilichowski E, Robert Kopajtich, Smirnov D, Ewa Pronicka, Christine Makowski, Elżbieta Ciara, Michael Wagner, Felix Distelmaier, René Santer, Olsen R, Wolstein T, Theresa Brunet, Muller-Felber W, Buchner B, Wolfgang Sperl, Maja Hempel, Stefan Kölker, Dominic Lenz, Sarah L. Stenton, Saskia B. Wortmann, Leiz S, Kei Murayama, Munoz-Pujol G, Konstantopoulou, Xu M, Tobias B. Haack, Tim M. Strom, Riccardo Berutti, Tsygankova P, Lim Az, Daniele Ghezzi, Robert McFarland, Deen D, Kotzaeridou U, Daniela Karall, Ardissone A, Charlotte L. Alston, Markus Schuelke, Thomas Klopstock, Peter Freisinger, Robert W. Taylor, Ban R, Verloo P, van Coster R, Shimura M, Agnès Rötig, Dariusz Rokicki, Yepez, Mandel H, Akira Ohtake, Angela Pyle, Yasushi Okazaki, Mirjana Gusic, Antonia Ribes, Costanza Lamperti, Fang F, Holger Prokisch, von Kleist-Retzow J, Ivo Barić, Julien Gagneur, Bader Alhaddad, Dorota Piekutowska-Abramczuk, Johannes A. Mayr, Michael Zech, Frederic Tort, Schiff M

مصطلحات موضوعية: 0303 health sciences, business.industry, Mitochondrial disease, Precision medicine, medicine.disease, Bioinformatics, Phenotype, 3. Good health, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, medicine, Functional studies, business, Gene, Mitochondrial protein, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::477c1c8ee5e39ca98f55206e438dd9a3Test
https://doi.org/10.1101/2021.06.21.21259171Test

المؤلفون: Ruth I. C. Glasgow, Kyle Thompson, Robert W. Taylor, Charlotte L. Alston, Angela Pyle, Emma L. Blakely, Robert McFarland, Fiona Robertson, Jack J Collier, Monika Oláhová

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Mitochondrial Diseases, diagnosis, Mitochondrial disease, molecular mechanisms, Review Article, Computational biology, Biology, Proteomics, DNA sequencing, Transcriptome, 03 medical and health sciences, Unknown Significance, Exome Sequencing, Genetics, medicine, Humans, Review Articles, Genetics (clinical), Exome sequencing, 030304 developmental biology, next generation sequencing, Whole genome sequencing, 0303 health sciences, Sequence Analysis, RNA, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, medicine.disease, Omics, 3. Good health, mitochondrial disease, Molecular Diagnostic Techniques, Genome, Mitochondrial

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3711470d4fb244425707e5d85ebf5662Test
https://doi.org/10.1002/jimd.12104Test

المؤلفون: Ahmad Alahmad, Robert McFarland, Robert W Taylor, Buthaina Albash, Angela Pyle, Hebatallah Muhammad

المصدر: Journal of Biochemical and Clinical Genetics. :54-64

مصطلحات موضوعية: Genetics, Candidate gene, education.field_of_study, Mitochondrial disease, Genetic counseling, Population, Mitochondrion, Biology, medicine.disease, Genome, DNA sequencing, medicine, education, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::284c35fd1c795ff33d5ca7becdcd9c76Test
https://doi.org/10.24911/jbcgenetics/183-1548325196Test

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