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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 Déuمصطلحات 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 -
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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 -
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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 -
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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 -
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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 -
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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 -
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المؤلفون: Emilia M. Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie C.L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen M. Treacy, Christopher J. Penkett, Jonathan C. Stephens, Harm J. Bogaard, Colin Church, Gerry Coghlan, Anna W. Coleman, Robin Condliffe, Christina A. Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, James M. Wild, Stephen John Wort, Allan Lawrie, Martin R. Wilkins, Richard C. Trembath, Yufeng Shen, Wendy K. Chung, Andrew J. Swift, William C. Nichols, Nicholas W. Morrell, Stefan Gräf, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David J. Allsup, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir Bariana, Julian Barwell, Joana Batista, Helen E. Baxendale, Phil L. Beales, David L. Bennett, Agnieszka Bierzynska, Tina Biss, Maria A.K. Bitner-Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Bockenhauer, Sara Boyce, John R. Bradley, Gerome Breen, Paul Brennan, Carole Brewer, Matthew Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, John Burn, Siobhan O. Burns, Oliver S. Burren, Nigel Burrows, Carolyn Campbell, Gerald Carr-White, Keren Carss, Ruth Casey, Mark J. Caulfield, Jenny Chambers, John Chambers, Melanie M.Y. Chan, Floria Cheng, Patrick F. Chinnery, Manali Chitre, Martin T. Christian, Jill Clayton-Smith, Maureen Cleary, Naomi Clements Brod, Elizabeth Colby, Trevor R.P. Cole, Janine Collins, Peter W. Collins, Cecilia J. Compton, H. Terence Cook, Stuart Cook, Nichola Cooper, Paul A. Corris, Nicola S. Curry, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Davis, Anthony De Soyza, Sri V.V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, J. David M. Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Perry Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiu, Dafydd Gareth Evans, Gillian Evans, Tamara Everington, Hiva Fassihi, Remi Favier, Debra Fletcher, Frances A. Flinter, R. Andres Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Abigail Furnell, Daniel P. Gale, Vijeya Ganesan, Michael Gattens, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Keith Gomez, Pavels Gordins, David Gosal, Jodie Graham, Luigi Grassi, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip Griffiths, Sofia Grigoriadou, Detelina Grozeva, Mark Gurnell, Scott Hackett, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew Hall, Helen L. Hanson, Eshika Haque, Kirsty Harkness, Andrew R. Harper, Claire L. Harris, Daniel Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Rita Horvath, Henry Houlden, Arjan C. Houweling, Fengyuan Hu, Gavin Hudson, Aarnoud P. Huissoon, Matthew Hurles, Melita Irving, Louise Izatt, Roger James, Sally A. Johnson, Stephen Jolles, Jennifer Jolley, Dragana Josifova, Neringa Jurkute, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M Kelly, Wilf Kelsall, Carly Kempster, Nathalie Kingston, Nils Koelling, Myrto Kostadima, Ania Koziell, Roman Kreuzhuber, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona Lalloo, Michele Lambert, Hana Lango Allen, D. Mark Layton, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul A. Lyons, Bella Madan, Eamonn R. Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo Mapeta, Kevin J. Marchbank, Stephen Marks, Hugh S. Markus, Hanns-Ulrich Marschall, Andrew Marshall, Mary Mathias, Emma Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Stuart Meacham, Adam J. Mead, Sarju G. Mehta, Michel Michaelides, Carolyn Millar, Shehla N. Mohammed, Anthony T. Moore, Monika Mozere, Keith W. Muir, Andrew D. Mumford, Andrea H. Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Chris Odhams, Steven Okoli, Andrea Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem H. Ouwehand, Claire Palles, Sofia Papadia, Soo-Mi Park, David Parry, Smita Patel, Joan Paterson, Andrew Peacock, Simon H. Pearce, Kathelijne Peerlinck, Romina Petersen, Clarissa Pilkington, Kenneth E.S. Poole, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Augusto Rendon, Tara Renton, Andrew S.C. Rice, Alex Richter, Leema Robert, Irene Roberts, Sarah J. Rose, Robert Ross-Russell, Catherine Roughley, Noemi B.A. Roy, Deborah M. Ruddy, Omid Sadeghi-Alavijeh, Moin A. Saleem, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon Satchell, Sinisa Savic, Genevieve Sayer, John A. Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard Scott, Marie Scully, Claire Searle, Arjune Sen, W.A. Carrock Sewell, Denis Seyres, Neil Shah, Olga Shamardina, Susan E. Shapiro, Adam C. Shaw, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian Smedley, Katherine R. Smith, Kenneth G.C. Smith, Katie Snape, Nicole Soranzo, Olivera Spasic-Boskovic, Simon Staines, Emily Staples, Hannah Stark, Kathleen E. Stirrups, Alex Stuckey, Petros Syrris, R. Campbell Tait, Kate Talks, Rhea Y.Y. Tan, Jenny C. Taylor, John M. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira J. Thomas, Patrick Thomas, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Ian P. Tomlinson, Matthew Traylor, Paul Treadaway, Salih Tuna, Ernest Turro, Philip Twiss, Tom Vale, Chris Van Geet, Natalie van Zuydam, Anthony M Vandersteen, Marta Vazquez-Lopez, Julie von Ziegenweidt, Annette Wagner, Quinten Waisfisz, Neil Walker, Suellen M. Walker, James S. Ware, Hugh Watkins, Christopher Watt, Andrew R. Webster, Lucy Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John-Paul Westwood, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Catherine Williamson, Brian T. Wilson, Edwin K.S. Wong, Nicholas Wood, Yvette Wood, Christopher Geoffrey Woods, Emma R. Woodward, Austen Worth, Michael Wright, Katherine Yates, Patrick F.K. Yong, Timothy Young, Ping Yu, Patrick Yu-Wai-Man, Eliska Zlamalova, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati
المساهمون: University of Cambridge [UK] (CAM), Columbia University [New York], University of Sheffield [Sheffield], University of Cincinnati (UC), St George's, University of London, Vrije Universiteit Amsterdam [Amsterdam] (VU), Golden Jubilee National Hospital, Glasgow, Royal Free Hospital [London, UK], Heidelberg University Hospital [Heidelberg], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Technische Hochschule Mittelhessen - University of Applied Sciences [Giessen] (THM), Fondazione IRCCS Policlinico San Matteo, Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Universität Heidelberg [Heidelberg], Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Imperial College London, Royal Hallamshire Hospital, University of Graz, Freeman Hospital, Royal United Hospitals Bath (RUH), Great Ormond Street Hospital for Children [London] (GOSH), Royal Papworth Hospital, Cambridge Biomedical Campus, Cambridge, United Kingdom., King‘s College London, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität [Graz, Autriche], Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Swietlik, Emilia [0000-0002-4095-8489], Megy, Karyn [0000-0002-2826-3879], Tilly, Tobias [0000-0002-6762-5342], Stephens, Jonathan [0000-0003-2020-9330], Toshner, Mark [0000-0002-3969-6143], Morrell, Nicholas [0000-0001-5700-9792], Graf, Stefan [0000-0002-1315-8873], Apollo - University of Cambridge Repository, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität Graz, HAL-SU, Gestionnaire, British Heart Foundation, The Academy of Medical Sciences
المصدر: Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Circulation. Genomic and Precision Medicine
Circulation. Genomic and precision medicine, 14(1):e003155. Lippincott Williams and Wilkins Ltd.
morrell 2021, ' Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension ', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155 . https://doi.org/10.1161/CIRCGEN.120.003155Test
Circulation: Genomic and Precision Medicine, 2020, ⟨10.1161/CIRCGEN.120.003155⟩مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Cardiac & Cardiovascular Systems, genetic association studies, 030204 cardiovascular system & hematology, Biology, Bayesian inference, 03 medical and health sciences, 0302 clinical medicine, Missing heritability problem, pulmonary hypertension, medicine, Family history, Gene, Genetics & Heredity, Genetics, family history, Science & Technology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Kinase insert domain receptor, computed tomography, General Medicine, Original Articles, medicine.disease, Pulmonary hypertension, Phenotype, 3. Good health, 030104 developmental biology, Cardiovascular System & Cardiology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Life Sciences & Biomedicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, vascular endothelial growth factor receptor
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524b66714d301fd180ea8d1d09ee8e86Test
https://hal.sorbonne-universite.fr/hal-03104099Test -
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المؤلفون: Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara
المساهمون: Powell, Christopher [0000-0001-7501-0586], Joost, Kairit [0000-0003-2544-3230], Minczuk, Michal [0000-0001-8242-1420], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: The EMBO Journal
مصطلحات موضوعية: Male, Proteomics, reversible infantile respiratory chain deficiency, Mitochondrial Diseases, Medizin, Gene Expression, medicine.disease_cause, igenic inheritance, digenic inheritance, Quadriceps Muscle, 0302 clinical medicine, Mitochondrial myopathy, Membrane & Intracellular Transport, 0303 health sciences, Mutation, tRNA Methyltransferases, General Neuroscience, Mitochondrial Myopathies, Articles, Digenic inheritance, Penetrance, 3. Good health, Mitochondria, Pedigree, homoplasmic tRNA mutation, Female, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Mitochondrial disease, Biology, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Lipid oxidation, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, mitochondrial myopathy, Infant, medicine.disease, Endocrinology, Metabolism, Mitochondrial biogenesis, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45dTest
http://europepmc.org/articles/PMC7705457Test -
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المؤلفون: Hannah Lowes, Angela Pyle, Marzena Kurzawa-Akanbi, Gavin Hudson
المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)مصطلحات موضوعية: Male, Mitochondrial DNA, lcsh:Medicine, Disease, Cell free, Bioinformatics, Synaptic vesicle, DNA, Mitochondrial, Article, Cerebrospinal fluid, medicine, Humans, Neurodegeneration, lcsh:Science, Cerebrospinal Fluid, Multidisciplinary, business.industry, Multiple sclerosis, lcsh:R, Neurodegenerative Diseases, medicine.disease, Mitochondria, Disease Progression, lcsh:Q, Female, business, Cell-Free Nucleic Acids, Cellular Debris, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc0be77e0e1b4dead126d99724cee56Test
https://pubmed.ncbi.nlm.nih.gov/32943697Test -
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المؤلفون: Michele Giunta, Hanns Lochmueller, Monica Machado Navarro, Denisa Hathazi, Sarah F Pearce, Serenella Servidei, Michal Minczuk, Manta Giri, Christopher A. Powell, Vamsi K. Mootha, Juliane S Mueller, Claudia Calabrese, Benjamin Munro, Rita Horvath, Veronika Boczonadi, Matthew J. Jennings, Ana Cotta, Andreas Roos, Eric P Hoffmann, Angela Pyle, Michael G. Hanna, Mar Tulinius, Michio Hirano, Wei Wei, Joanna Poulton, Kristine Chapman, Julia Filardi Paim, Robert D S Pitceathly, Helen Griffin, Andre Mattmann, Aurora Gomez-Duran, Johanna Uusima, Ulrike Schara, Kairit Joost, Jennifer Duff, Salvatore DiMauro, Patrick F. Chinnery
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Mutation, Mitochondrial DNA, Mitochondrial translation, Catabolism, Mitochondrial disease, Biology, medicine.disease_cause, medicine.disease, Penetrance, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mitochondrial myopathy, Mitochondrial biogenesis, Internal medicine, medicine, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df47fd8ee77de56e35ac6c2738539029Test