المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Ferreira, Tomas, Polavarapu, Kiran, Olimpio, Catarina, Paramonov, Ida, Lochmüller, Hanns, Horvath, Rita

المصدر: Journal of neurology. - 271, 6 (2024) , 3546-3553, ISSN: 1432-1459

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/253308

الاتاحة: https://freidok.uni-freiburg.de/data/253308
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2533085
https://doi.org/10.1007/s00415-024-12319-y
https://freidok.uni-freiburg.de/dnb/download/253308

المؤلفون: Olimpio, Catarina, Paramonov, Ida, Matalonga, Leslie, Laurie, Steven, Schon, Katherine, Polavarapu, Kiran, Kirschner, Janbernd, Schara-Schmidt, Ulrike, Lochmüller, H., Chinnery, Patrick F., Horvath, Rita

المصدر: Journal of neuromuscular diseases. - 11, 4 (2024) , 767-775, ISSN: 2214-3602

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/248984

الاتاحة: https://freidok.uni-freiburg.de/data/248984
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2489846
https://doi.org/10.3233/jnd-240020
https://freidok.uni-freiburg.de/dnb/download/248984

المؤلفون: Olimpio, Catarina, Paramonov, Ida, Matalonga, Leslie, Laurie, Steven, Schon, Katherine, Polavarapu, Kiran, Kirschner, Janbernd, Schara-Schmidt, Ulrike, Lochmüller, Hanns, Chinnery, Patrick F, Horvath, Rita

مصطلحات موضوعية: Mitochondrial diseases, mitochondrial genes, next generation sequencing, respiratory chain deficiencies, Humans, Exome Sequencing, Child, Male, Female, Cohort Studies, DNA, Mitochondrial

وصف الملف: text/xml; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/378353

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/378353

المؤلفون: Van Haute, Lindsey, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S, Ziegler, Alban, Thorburn, David, Stroud, David A, Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, Horvath, Rita

مصطلحات موضوعية: 3101 Biochemistry and cell biology, 3205 Medical biochemistry and metabolomics, Institute for Health and Sport, TEFM, mitochondrial respiratory chain deficiency, mitochondrial myopathy, mitochondrial transcription elongation, Zebrafish

وصف الملف: text

Relation: https://vuir.vu.edu.au/47445/; https://doi.org/10.1038/s41467-023-36277-7; https://vuir.vu.edu.au/47445/1/s41467-023-36277-7%20%283%29.pdf; Van Haute, Lindsey orcid:0000-0001-7809-1473 , O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran orcid:0000-0002-8879-6001 , Hock, Daniella H orcid:0000-0002-6940-4420 , Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak orcid:0000-0002-4106-409X , Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola orcid:0000-0002-6895-8819 , Cappuccio, Gerarda, Caruana, Nikeisha orcid:0000-0002-0817-1686 , Dominik, Natalia, Goel, Himanshu, Helman, Guy orcid:0000-0002-4784-7423 , Houlden, Henry orcid:0000-0002-2866-7777 , Lenaers, Guy orcid:0000-0003-2736-3349 , Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio orcid:0000-0002-9871-3126 , Rebelo-Guiomar, Pedro orcid:0000-0002-5060-7519 , Simons, Cas orcid:0000-0003-3147-8042 , Vengalil, Seena orcid:0000-0002-0629-9221 , Zaki, Maha S orcid:0000-0001-7840-0002 , Ziegler, Alban, Thorburn, David orcid:0000-0002-7725-9470 , Stroud, David A orcid:0000-0002-2048-3383 , Maroofian, Reza, Christodoulou, John orcid:0000-0002-8431-0641 , Gustafsson, Claes orcid:0000-0003-3531-8468 , Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal orcid:0000-0001-8242-1420 and Horvath, Rita orcid:0000-0002-9841-170X (2023) TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature Communications, 14. ISSN 2041-1723

الاتاحة: https://vuir.vu.edu.au/47445/
https://www.nature.com/articles/s41467-023-36277-7
https://doi.org/10.1038/s41467-023-36277-7
https://vuir.vu.edu.au/47445/1/s41467-023-36277-7%20%283%29.pdf

المؤلفون: Major, Toby Charles, Arany, Eszter Sara, Schon, Katherine, Simo, Magdolna, Karcagi, Veronika, van den Ameele, Jelle, Yu Wai Man, Patrick, Chinnery, Patrick F, Olimpio, Catarina, Horvath, Rita

مصطلحات موضوعية: DNA-J heat shock protein family (Hsp40) member C30 (DNAJC30), Leber hereditary optic neuropathy (LHON), autosomal recessive LHON (arLHON), c.152A>G (p.Tyr51Cys), idebenone, mitochondrial LHON (mtLHON), recessive optic neuropathy

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/358968; https://doi.org/10.17863/CAM.102302

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/358968
https://doi.org/10.17863/CAM.102302

المؤلفون: Olimpio, Catarina, Tiet, May Yung, Horvath, Rita

المصدر: Neuromuscular Disorders ; volume 31, issue 10, page 978-987 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.08.005
https://api.elsevier.com/content/article/PII:S0960896621006076?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621006076?httpAccept=text/plain

المؤلفون: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

المساهمون: Van Haute, Lindsey [0000-0001-7809-1473], Polavarapu, Kiran [0000-0002-8879-6001], Hock, Daniella H [0000-0002-6940-4420], Bardhan, Mainak [0000-0002-4106-409X], Brunetti-Pierri, Nicola [0000-0002-6895-8819], Caruana, Nikeisha J [0000-0002-0817-1686], Helman, Guy [0000-0002-4784-7423], Houlden, Henry [0000-0002-2866-7777], Lenaers, Guy [0000-0003-2736-3349], Rius, Rocio [0000-0002-9871-3126], Rebelo-Guiomar, Pedro [0000-0002-5060-7519], Simons, Cas [0000-0003-3147-8042], Vengalil, Seena [0000-0002-0629-9221], Zaki, Maha S [0000-0001-7840-0002], Thorburn, David R [0000-0002-7725-9470], Stroud, David A [0000-0002-2048-3383], Christodoulou, John [0000-0002-8431-0641], Gustafsson, Claes [0000-0003-3531-8468], Minczuk, Michal [0000-0001-8242-1420], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Van Haute, Lindsey, O'Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J, Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Ca, Vengalil, Seena, Zaki, Maha S, Ziegler, Alban, Thorburn, David R, Stroud, David A, Maroofian, Reza, Christodoulou, John, Gustafsson, Clae, Nalini, Atchayaram, Lochmüller, Hann, Minczuk, Michal, Horvath, Rita

مصطلحات موضوعية: Transcription, Genetic, RNA, Mitochondrial, General Physics and Astronomy, 38/90, 13/106, 692/1807/1693, 14, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, 38, 38/91, 82/80, Mitochondrial Proteins, 38/1, 692/420/2489/144, 692/617/375/374, 38/23, 38/22, Animals, Humans, Child, Zebrafish, 64, Multidisciplinary, 64/116, 692/308/2056, article, General Chemistry, 13/51, Mutation, 38/77, 692/700/139/422, Transcription Factors

وصف الملف: application/pdf; application/zip; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68c2dc7e42ec43005037539b14834e6e