المؤلفون: De Wel, Bram, Iterbeke, Louise, Huysmans, Lotte, Peeters, Ronald, Goosens, Veerle, Dubuisson, Nicolas, van den Bergh, Peter, Van Parijs, Vinciane, Remiche, Gauthier, De Waele, Liesbeth, Maes, Frederik, Dupont, Patrick, Claeys, Kristl G.

المساهمون: KU Leuven, Fonds Wetenschappelijk Onderzoek, Universitaire Ziekenhuizen Leuven, KU Leuven

المصدر: European Journal of Neurology ; ISSN 1351-5101 1468-1331

الإتاحة: https://doi.org/10.1111/ene.16282Test

المؤلفون: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

المساهمون: Medicum, Genetics, Department of Medical and Clinical Genetics, Faculty Common Matters (Faculty of Medicine)

مصطلحات موضوعية: 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: The research leading to these results has received funding from the European Community’s Seventh Framework Program (FP7/2007-2013; 2012-305121) ‘Integrated European—omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)’ (to A. Töpf, V.S., I.T.Z. and F.M.); the European Union’s Horizon 2020 research and innovation program (Solve-RD project; 779257 to A. Töpf); Muscular Dystrophy UK and Muscular Dystrophy Association US (mda577346 to F.M.); Päulon Säätiö (to M. Savarese); Academy of Finland, Sigrid Juselius Foundation (to B.U.); core funding to the Sanger Institute by the Wellcome Trust (098051 and 206194 to E.M.B.-N., J.P. and N.W.); EURO-NMD and Fundación Gemio (to J.J.V., N.M. and P.M.); Intramural Research Grant (2-5, 29-4) for Neurological and Psychiatric Disorders of NCNP and AMED (JP20ek0109490h0001 to I.N.); Inserm, CNRS, University of Strasbourg, Labex INRT (ANR-10-LABX-0030 and ANR-10-IDEX-0002-02), France Génomique (ANR-10-INBS-09) and Fondation Maladies Rares for the ‘Myocapture’ sequencing project, AFM-Téléthon (22734), the European Joint program (EJPRD2019-126 IDOLS-G and ANR-19-RAR4-0002 to J.L., X.L. and V.B.); Intramural funds from the NIH National Institute of Neurological Disorders and Stroke (to C.G.B.); the Dutch Princess Beatrix Muscle Fund and the Dutch Spieren voor Spieren Muscle fund (to C.E.E.); PI16/00316 supported by the Instituto de Salud Carlos III (ISCIII), Madrid and the Generalitat Valenciana (grant PROMETEO/2019/075 to N.M.); Australian NHMRC Neil Hamilton Fairley Early Career Research Fellowship (GNT1090428 to E.C.O.); Starship Foundation A+7340 (to G.L.O.); Early Career Award from the Thrasher Research Fund (to S.S.); U54 HD090255 from the NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development (to A.H.B.); Wellcome Center for Mitochondrial Research (203105/Z/16/Z), the Mitochondrial Disease Patient Cohort (UK; G0800674), the Medical Research Council International Center for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Medical Research Council (MR/W019027/1), the Lily Foundation, Mito Foundation, the Pathological Society, the UK NIHR Biomedical Research Center for Ageing and Age-related Disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust and the UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children (to R.W.T.). MYO–SEQ was funded by Sanofi Genzyme, Ultragenyx, LGMD2I Research Fund, Samantha J Brazzo Foundation, LGMD2D Foundation, Kurt+Peter Foundation, Muscular Dystrophy UK and Coalition to Cure Calpain 3. Sequencing and analysis for relevant families () were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute, the National Eye Institute and the National Heart, Lung and Blood Institute under grant UM1 HG008900 and the National Human Genome Research Institute under grants U01HG0011755 and R01 HG009141. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. DNA samples for NeurOmics and MYO–SEQ were provided by the John Walton Muscular Dystrophy Research Center Biobank. This facility is supported by the NIHR Newcastle Biomedical Research Center. Newcastle University’s Electron Microscopy Research Services and equipment Hitachi HT7800 120 kV TEM microscope are funded by BBSRC grant reference BB/R013942/1.; Töpf , A , Cox , D , Zaharieva , I T , Di Leo , V , Sarparanta , J , Jonson , P H , Sealy , I M , Smolnikov , A , White , R J , Vihola , A , Savarese , M , Merteroglu , M , Wali , N , Laricchia , K M , Venturini , C , Vroling , B , Stenton , S L , Cummings , B B , Harris , E , Marini-Bettolo , C , Diaz-Manera , J , Henderson , M , Barresi , R , Duff , J , England , E M , Patrick , J , Al-Husayni , S , Biancalana , V , Beggs , A H , Bodi , I , Bommireddipalli , S , Bönnemann , C G , Cairns , A , Chiew , M T , Claeys , K G , Cooper , S T , Davis , M R , Donkervoort , S , Erasmus , C E , Fassad , M R , Genetti , C A , Grosmann , C , Jungbluth , H , Kamsteeg , E J , Lornage , X , Löscher , W N , Malfatti , E , Manzur , A , Martí , P , Mongini , T E , Muelas , N , Nishikawa , A , O’Donnell-Luria , A , Ogonuki , N , O’Grady , G L , O’Heir , E , Paquay , S , Phadke , R , Pletcher , B A , Romero , N B , Schouten , M , Shah , S , Smuts , I , Sznajer , Y , Tasca , G , Taylor , R W , Tuite , A , Van den Bergh , P , VanNoy , G , Voermans , N C , Wanschitz , J V , Wraige , E , Yoshimura , K , Oates , E C , Nakagawa , O , Nishino , I , Laporte , J , Vilchez , J J , MacArthur , D G , Sarkozy , A , Cordell , H J , Udd , B , Busch-Nentwich , E M , Muntoni , F & Straub , V 2024 , ' Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy ' , Nature Genetics , vol. 56 , no. 3 , pp. 395-407 . https://doi.org/10.1038/s41588-023-01651-0Test; ORCID: /0000-0002-2591-244X/work/157593761; ORCID: /0000-0003-2423-359X/work/157597966; http://hdl.handle.net/10138/574250Test; 1a6fd9c9-e02b-4687-8cb3-3c264e80b740; 85186444099

الإتاحة: http://hdl.handle.net/10138/574250Test

المؤلفون: van Doorn, Pieter A., Van den Bergh, Peter Y.K., Hadden, Robert D.M.

المصدر: van Doorn , P A , Van den Bergh , P Y K & Hadden , R D M 2024 , ' Response to letter on European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of Guillain–Barré syndrome ' , European Journal of Neurology , vol. 31 , no. 4 , e16230 . https://doi.org/10.1111/ene.16230Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/22b15965-7105-491e-808d-8fbb1669b6a9Test

الإتاحة: https://doi.org/10.1111/ene.16230Test
https://pure.eur.nl/en/publications/22b15965-7105-491e-808d-8fbb1669b6a9Test
https://pure.eur.nl/ws/files/136372140/Response_to_letter_on_European_Academy_of_Neurology_Peripheral_Nerve_Society_guideline_on_diagnosis_and_treatment_of_Guillain_Barr_syndrome.pdfTest
http://www.scopus.com/inward/record.url?scp=85184420234&partnerID=8YFLogxKTest

المؤلفون: Gustavsson, Anders, Svensson, Mikael, Jacobi, Frank, Allgulander, Christer, Alonso, Jordi, Beghi, Ettore, Dodel, Richard, Ekman, Mattias, Faravelli, Carlo, Fratiglioni, Laura, Gannon, Brenda, Jones, David Hilton, Jennum, Poul, Jordanova, Albena, Jönsson, Linus, Karampampa, Korinna, Knapp, Martin, Kobelt, Gisela, Kurth, Tobias, Lieb, Roselind, Linde, Mattias, Ljungcrantz, Christina, Maercker, Andreas, Melin, Beatrice, Moscarelli, Massimo, Musayev, Amir, Norwood, Fiona, Preisig, Martin, Pugliatti, Maura, Rehm, Juergen, Salvador-Carulla, Luis, Schlehofer, Brigitte, Simon, Roland, Steinhausen, Hans-Christoph, Stovner, Lars Jacob, Vallat, Jean-Michel, Van den Bergh, Peter, van Os, Jim, Vos, Pieter, Xu, Weili, Wittchen, Hans-Ulrich, Jönsson, Bengt, Olesen, Jes

المصدر: European Neuropsychopharmacology, Bd. 21 (2011), Nr. 10, S. 718–779, ISSN: 0924-977X

مصطلحات موضوعية: info:eu-repo/classification/ddc/150, ddc:150, Prävalenz, Psychische Störungen, Neurologische Störungen, Gehirnerkrankungen, Europa, Prevalence, Mental disorders, Neurological disorders, Disorders of the brain, Europe

الإتاحة: https://tud.qucosa.de/id/qucosa%3A26871Test
https://tud.qucosa.de/api/qucosa%3A26871/attachment/ATT-0Test/

المؤلفون: Amato, Anthony A, Hanna, Michael G, Machado, Pedro M, Badrising, Umesh A, Chinoy, Hector, Benveniste, Olivier, Karanam, Ananda Krishna, Wu, Min, Tankó, László B, Schubert-Tennigkeit, Agnes Annette, Papanicolaou, Dimitris A, Lloyd, Thomas E, Needham, Merrilee, Liang, Christina, Reardon, Katrina A, de Visser, Marianne, Ascherman, Dana P, Barohn, Richard J, Dimachkie, Mazen M, Miller, James AL, Kissel, John T, Oskarsson, Björn, Joyce, Nanette C, Van den Bergh, Peter, Baets, Jonathan, De Bleecker, Jan L, Karam, Chafic, David, William S, Mirabella, Massimiliano, Nations, Sharon P, Jung, Hans H, Pegoraro, Elena, Maggi, Lorenzo, Rodolico, Carmelo, Filosto, Massimiliano, Shaibani, Aziz I, Sivakumar, Kumaraswamy, Goyal, Namita A, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Suzuki, Naoki, Aoki, Masashi, Katsuno, Masahisa, Morihata, Hirokazu, Murata, Kenya, Nodera, Hiroyuki, Nishino, Ichizo, Romano, Carla D, Williams, Valerie SL, Vissing, John, Zhang Auberson, Lixin

المصدر: Neurology. 96(12)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Accidental Falls, Adult, Aged, Aged, 80 and over, Antibodies, Monoclonal, Humanized, Double-Blind Method, Female, Humans, Male, Middle Aged, Muscle Strength, Myositis, Inclusion Body, Time, Treatment Outcome, Walk Test, RESILIENT Study Extension Group, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6hb7r1btTest

المؤلفون: Bril, Vera, Benatar, Michael, Andersen, Henning, Vissing, John, Brock, Melissa, Greve, Bernhard, Kiessling, Peter, Woltering, Franz, Griffin, Laura, Van den Bergh, Peter, Investigators, on behalf of the MG0002

المصدر: Neurology. 96(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Clinical Research, Clinical Trials and Supportive Activities, Autoimmune Disease, Myasthenia Gravis, Rare Diseases, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adult, Aged, Antibodies, Monoclonal, Humanized, Double-Blind Method, Female, Humans, Immunosuppressive Agents, Male, Middle Aged, Outcome Assessment, Health Care, MG0002 Investigators, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2k76h9m0Test

المؤلفون: van Doorn, Pieter A., Van den Bergh, Peter Y.K., Hadden, Robert D.M., Avau, Bert, Vankrunkelsven, Patrik, Attarian, Shahram, Blomkwist-Markens, Patricia H., Cornblath, David R., Goedee, H. Stephan, Harbo, Thomas, Jacobs, Bart C., Kusunoki, Susumu, Lehmann, Helmar C., Lewis, Richard A., Lunn, Michael P., Nobile-Orazio, Eduardo, Querol, Luis, Rajabally, Yusuf A., Umapathi, Thirugnanam, Topaloglu, Haluk A., Willison, Hugh J.

المصدر: van Doorn , P A , Van den Bergh , P Y K , Hadden , R D M , Avau , B , Vankrunkelsven , P , Attarian , S , Blomkwist-Markens , P H , Cornblath , D R , Goedee , H S , Harbo , T , Jacobs , B C , Kusunoki , S , Lehmann , H C , Lewis , R A , Lunn , M P , Nobile-Orazio , E , Querol , L , Rajabally , Y A , Umapathi , T , Topaloglu , H A & Willison , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/931ee147-3097-4e39-a1a7-a080cee46862Test

الإتاحة: https://doi.org/10.1111/jns.12594Test
https://pure.eur.nl/en/publications/931ee147-3097-4e39-a1a7-a080cee46862Test
https://pure.eur.nl/ws/files/119318397/J_Peripheral_Nervous_Sys_-_2023_-_Doorn_-_European_Academy_of_Neurology_Peripheral_Nerve_Society_Guideline_on_diagnosis_and.pdfTest
http://www.scopus.com/inward/record.url?scp=85173769569&partnerID=8YFLogxKTest

المؤلفون: Carrington, Glenn, Hau, Abbi, Kosta, Sarah, Dugdale, Hannah F., Muntoni, Francesco, D’Amico, Adele, Van den Bergh, Peter, Romero, Norma B., Malfatti, Edoardo, Vilchez, Juan Jesus, Oldfors, Anders, Pajusalu, Sander, Õunap, Katrin, Giralt-Pujol, Marta, Zanoteli, Edmar, Campbell, Kenneth S., Iwamoto, Hiroyuki, Peckham, Michelle, Ochala, Julien

المصدر: Carrington , G , Hau , A , Kosta , S , Dugdale , H F , Muntoni , F , D’Amico , A , Van den Bergh , P , Romero , N B , Malfatti , E , Vilchez , J J , Oldfors , A , Pajusalu , S , Õunap , K , Giralt-Pujol , M , Zanoteli , E , Campbell , K S , Iwamoto , H , Peckham , M & Ochala , J 2023 , ' Human skeletal myopathy myosin mutations disrupt myosin head sequestration ' , JCI insight , vol. ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1172/jci.insight.172322Test
https://curis.ku.dk/portal/da/publications/human-skeletal-myopathy-myosin-mutations-disrupt-myosin-head-sequestrationTest(40aaea23-34c8-42b4-bfe7-55d87ae379ef).html
https://curis.ku.dk/ws/files/374308610/Human_skeletal_myopathy.pdfTest
http://www.scopus.com/inward/record.url?scp=85176217169&partnerID=8YFLogxKTest

المؤلفون: Dubuisson, Nicolas, Versele, Romain, Davis López de Carrizosa, María América, Selvais, Camille M., Noel, Laurence, Planchon, Chloe, Van den Bergh, Peter Y. K., Brichard, Sonia M., Abou-Samra, Michel

المساهمون: Universidad de Sevilla. Departamento de Fisiología, Fund for Scientific Research. Belgium

مصطلحات موضوعية: Adiponectin, ALY688, AMPK, Duchenne muscular dystrophy, Fibrosis, Inflammation, Myonecrosis, Necroptosis, Regeneration, Skeletal muscle

العلاقة: Cells, 12 (16), 2101.; PDR/T.0026.21; https://doi.org/10.3390/cells12162101Test; https://idus.us.es/handle//11441/148840Test

الإتاحة: https://doi.org/10.3390/cells12162101Test
https://idus.us.es/handle//11441/148840Test

المؤلفون: Allen, Nicholas M, O’Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Van den Bergh, Peter, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Natera-de Benito, Daniel, Cheng, Man Hin Mark, Chan, Wing Ki, Wan, Hoi Shan, Thomas, Mary Ann, Borch, Lauren, Lauzon, Julie, Kornblum, Cornelia, Reimann, Jens, Mueller, Andreas, Kuntzer, Thierry, Norwood, Fiona, Ramdas, Sithara, Jacobson, Leslie W, Jie, Xiaobo, Fernandez-Garcia, Miguel A, Wraige, Elizabeth, Lim, Ming, Lin, Jean Pierre, Claeys, Kristl G, Aktas, Selma, Oskoui, Maryam, Hacohen, Yael, Masud, Ameneh, Leite, M Isabel, Palace, Jacqueline, De Vivo, Darryl, Vincent, Angela, Jungbluth, Heinz

المصدر: Brain

مصطلحات موضوعية: Original Article

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545502Test/; http://www.ncbi.nlm.nih.gov/pubmed/37186601Test; http://dx.doi.org/10.1093/brain/awad153Test

الإتاحة: https://doi.org/10.1093/brain/awad153Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545502Test/
http://www.ncbi.nlm.nih.gov/pubmed/37186601Test