المؤلفون: Pérez-Pérez, Juan F., Gómez, Pablo Isaza, Bonet, Isis, Sánchez-Pinzón, María Solange, Caraffini, Fabio, Lochmuller, Christian

مصطلحات موضوعية: Computer Science - Artificial Intelligence

URL الوصول: http://arxiv.org/abs/2404.16055

المؤلفون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren, Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan, Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia, Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair, Pennavaria, Ajia, Krogstad, Liv, Bekkelund, Åse, Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten, Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra, Lochmuller, Hanns, Daas, Sahar, Fakhro, Khalid, Gómez-Pascual, Alicia, Botía, Juan, Wood, Nicholas, Horvath, Rita, Ernst, Andreas, Rothman, James, McEntagart, Meriel, Crow, Yanick, Alkuraya, Fowzan, Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

المصدر: Nature Communications. 15(1)

مصطلحات موضوعية: Humans, Acetylation, Brain, Brain Diseases, Inheritance Patterns, Mutation, Phosphates, Sodium-Phosphate Cotransporter Proteins, Type III

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8hc1r6m8
https://escholarship.org/content/qt8hc1r6m8/qt8hc1r6m8.pdf

المؤلفون: Marzieh Babaee, Mahdieh Rahmati, Shima Dehdahsi, Hanns Lochmuller, Mohamad Hassan Bahrami, Vahide Zeinali, S. Mansoor Rayegani

المصدر: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Glycogen storage disease type II, Lysosomal storage diseases, Nervous system, Small fiber neuropathy, Peripheral nervous system diseases, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/8da7403631674208bcef307a4ec048b7

المؤلفون: Landfeldt, E, Pechmann, A, McMillan, HJ, Lochmuller, H, Sejersen, T

المصدر: Applied health economics and health policy. 19(4):501-520

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145950218

المؤلفون: Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Faber, CG, Merkies, ISJ, Gorman, G, Turner, C, Lochmuller, H

المصدر: Journal of neurology. 268(267):3235-3242

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:143952647

المؤلفون: Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Faber, CG, Merkies, ISJ, Gorman, G, Turner, C, Lochmuller, H

المصدر: Acta neurologica Scandinavica. 141(5):380-387

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142778482

المؤلفون: Landfeldt, E, Thompson, R, Sejersen, T, McMillan, HJ, Kirschner, J, Lochmuller, H

المصدر: European journal of epidemiology. 35(7):643-653

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:143076603

المؤلفون: Landfeldt, E, Pogoryelova, O, Sejersen, T, Zethraeus, N, Breiner, A, Lochmuller, H

المصدر: PharmacoEconomics. 38(7):715-728

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:143598412

المؤلفون: Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661

المؤلفون: Lochmuller, H, Ambrosini, A, van Engelen, B, Hansson, M, Tibben, A, Breukel, A, Sterrenburg, E, Schrijvers, G, Meijer, I, Padberg, G, Peay, H, Monaco, L, Snape, M, Lennox, A, Mazzone, E, Bere, N, de Lemus, M, Landfeldt, E, Willmann, R

المصدر: Journal of neuromuscular diseases. 6(1):161-172

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147397364

المؤلفون: Jimenez-Moreno, AC, Nikolenko, N, Kierkegaard, M, Blain, AP, Newman, J, Massey, C, Moat, D, Sodhi, J, Atalaia, A, Gorman, GS, Turner, C, Lochmuller, H

المصدر: Annals of clinical and translational neurology. 6(8):1487-1497

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141587449

المؤلفون: Landfeldt, E, Edstrom, J, Jimenez-Moreno, C, van Engelen, BGM, Kirschner, J, Lochmuller, H

المصدر: The patient. 12(4):365-373

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141272022

المؤلفون: Landfeldt, E, Nikolenko, N, Jimenez-Moreno, C, Cumming, S, Monckton, DG, Gorman, G, Turner, C, Lochmuller, H

المصدر: Journal of neurology. 266(4):998-1006

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140674822

المؤلفون: Landfeldt, E, Phung, K, Zaman, F, Astrom, E, Abner, S, Lochmuller, H, Sejersen, T, Ward, LM

المصدر: NEUROLOGY. 102(2)

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:159500879

المؤلفون: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Registry, Registry Hub, Neuromuscular Diseases, Rare Diseases, FAIR data, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/50645335f24240a3b4537c13391b28b5

المؤلفون: Coenen-Stass, AML, Sork, H, Gatto, S, Godfrey, C, Bhomra, A, Krjutskov, K, Hart, JR, Westholm, JO, O'Donovan, L, Roos, A, Lochmuller, H, Puri, PL, EL Andaloussi, S, Wood, MJA, Roberts, TC

المصدر: Molecular therapy. Nucleic acids. 13:1-15

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139752979

المؤلفون: Manis, Cristina, Casula, Mattia, Roos, Andreas, Hentschel, Andreas, Vorgerd, Matthias, Pogoryelova, Oksana, Derksen, Alexa, Spendiff, Sally, Lochmüller, Hanns, Caboni, Pierluigi

المساهمون: Manis, Cristina, Casula, Mattia, Roos, Andrea, Hentschel, Andrea, Vorgerd, Matthia, Pogoryelova, Oksana, Derksen, Alexa, Spendiff, Sally, Lochmüller, Hann, Caboni, Pierluigi

مصطلحات موضوعية: GNE myopathy, HIBM, Nonaka myopathy, GNEM biomarker, carnitine, lysophosphocholine, ceramides

Relation: info:eu-repo/semantics/altIdentifier/pmid/39519852; info:eu-repo/semantics/altIdentifier/wos/WOS:001351751600001; volume:29; issue:21; numberofpages:17; journal:MOLECULES; https://hdl.handle.net/11584/427390

الاتاحة: https://hdl.handle.net/11584/427390
https://doi.org/10.3390/molecules29215211

المؤلفون: Kastreva, Kristina, Chamova, Teodora, Blagoeva, Stanislava, Bichev, Stoyan, Mihaylova, Violeta, Meyer, Stefanie, Thompson, Rachel, Cherninkova, Sylvia, Guergueltcheva, Velina, Lochmuller, Hanns, Tournev, Ivailo

المساهمون: Kastreva, Kristina, Chamova, Teodora, Blagoeva, Stanislava, Bichev, Stoyan, Mihaylova, Violeta, Meyer, Stefanie, Thompson, Rachel, Cherninkova, Sylvia, Guergueltcheva, Velina, Lochmuller, Hanns, Tournev, Ivailo

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/145212

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/145212
https://doi.org/10.3233/JND-230235

المؤلفون: Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvo, Alberto, Fernandez-Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, Luengo, Cristina, Martinez, Ines, Papakonstantinou, Anastasios, Pico-Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayes, Monica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Remi, Alonso, Angel, Attimonelli, Marcella, Beroud, Christophe, Bros-Facer, Virginie, Buske, Orion J., Canada-Pallares, Andres, Fernandez, Jose M., Hansson, Mats G., 1952, Horvath, Rita, Jacobsen, Julius O. B., Kaliyaperumal, Rajaram, Lair-Preterre, Severine, Licata, Luana, Lopes, Pedro, Lopez-Martin, Estrella, Mascalzoni, Deborah, 1973, Monaco, Lucia, Perez-Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Topf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmuller, Hanns, Beltran, Sergi

المصدر: Human Mutation. 43(6):717-733

مصطلحات موضوعية: data sharing, data standardization, diagnostics, genome analysis, NGS, patient matchmaking, rare diseases

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-476113
https://doi.org/10.1002/humu.24353
https://uu.diva-portal.org/smash/get/diva2:1666087/FULLTEXT01.pdf

المؤلفون: Landfeldt, E, Alfredsson, L, Straub, V, Lochmuller, H, Bushby, K, Lindgren, P

المصدر: PharmacoEconomics. 35(2):249-258

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135148077