المؤلفون: Marcello, Matteo, Cetrangolo, Viviana, Savarese, Marco, Udd, Bjarne

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

مصطلحات موضوعية: EXPRESSION, medaka, TIBIAL MUSCULAR-DYSTROPHY, TTN, mice, mdm, BAND TITIN, zebrafish, GENE, animal models, dilated cardiomyopathy, DOMAIN, congenital myopathy, SKELETAL-MUSCLE, 1182 Biochemistry, cell and molecular biology, titin, C-TERMINAL TITIN, TRUNCATING MUTATIONS, 3111 Biomedicine, Z-DISK

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1593::887f7a9dbd9eefadf21b75f4765d9c3aTest
http://hdl.handle.net/10138/350369Test

المؤلفون: Hackman, Peter, Udd, Bjarne, Bonnemann, Carsten G., Ferreiro, Ana, Titinopathy Database Consortium

المساهمون: Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: EARLY RESPIRATORY-FAILURE, TIBIAL MUSCULAR-DYSTROPHY, C-TERMINAL TITIN, HEREDITARY MYOPATHY, DILATED CARDIOMYOPATHY, TRUNCATING MUTATIONS, MUSCLE INVOLVEMENT, DISTAL MYOPATHY, COMMON-CAUSE, TTN, 3111 Biomedicine

وصف الملف: application/pdf

العلاقة: This Workshop was made possible, thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: Association Francaise contre les Myopathies (France), Deutsche Gesellshaft fur Muskelkranke (Germany), Muscular Dystrophy UK (UK), Prinses Beatrix Spierfonds (The Netherlands), Muskelsvindfonden (Denmark), Schweizerische Stiftung fur die Erforschung der Muskelkrankheiten (Switzerland), Telethon Foundation (Italy), Spierziekten Nederland (The Netherlands) and Associated member: Finnish Neuromuscular Association (Finland). We are grateful to the CureCMD and the Joshua Frase Foundation, who helped fund the non-European travel expenses.; Hackman , P , Udd , B , Bonnemann , C G , Ferreiro , A & Titinopathy Database Consortium 2017 , ' 219th ENMC International Workshop Titinopathies International database oftitin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016 ' , Neuromuscular Disorders , vol. 27 , no. 4 , pp. 396-407 . https://doi.org/10.1016/j.nmd.2017.01.009Test; 85012862769; bed1cf03-8a64-448a-bd7c-2d70e23d5e7f; http://hdl.handle.net/10138/236952Test; 000399856300014

الإتاحة: http://hdl.handle.net/10138/236952Test

المؤلفون: Raymond, FL

مصطلحات موضوعية: WASF1, WAVE1 complex, neurodevelopmental disorder, autism, seizures, lamellipodia, actin cytoskeleton, recurrent de novo truncating mutations, developmental delay

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/283596Test

الإتاحة: https://doi.org/10.17863/CAM.24823Test
https://www.repository.cam.ac.uk/handle/1810/283596Test

المؤلفون: Ito, Y, Carss, KJ, Duarte, ST, Hartley, T, Keren, B, Kurian, MA, Marey, I, Charles, P, Mendonça, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Aitman, T, Bennett, D, Caulfield, M, Chinnery, P, Gale, D, Koziell, A, Kuijpers, TW, Laffan, MA, Maher, E, Markus, HS, Morrell, NW, Ouwehand, WH, Perry, DJ, Raymond, FL, Roberts, I, Smith, KGC, Thrasher, A, Watkins, H, Williamson, C, Woods, G, Ashford, S, Bradley, JR, Fletcher, D, Hammerton, T, James, R, Kingston, N, Penkett, CJ, Stirrups, K, Veltman, M, Young, T, Brown, M, Clements-Brod, N, Davis, J, Dewhurst, E, Dolling, H, Erwood, M, Frary, A, Linger, R, Martin, JM, Papadia, S, Rehnstrom, K, Stark, H, Allsup, D, Austin, S, Bakchoul, T, Bariana, TK, Bolton-Maggs, P, Chalmers, E, Collins, J, Collins, P, Erber, WN, Everington, T, Favier, R, Freson, K, Furie, B, Gattens, M, Gebhart, J, Gomez, K, Greene, D, Greinacher, A, Gresele, P, Hart, D, Heemskerk, JWM, Henskens, Y, Kazmi, R, Keeling, D, Kelly, AM, Lambert, MP, Lentaigne, C, Liesner, R, Makris, M, Mangles, S, Mathias, M, Millar, CM, Mumford, A, Nurden, P, Payne, J, Pasi, J, Peerlinck, K, Revel-Vilk, S

المصدر: American Journal of Human Genetics , 103 (1) pp. 144-153. (2018)

مصطلحات موضوعية: WASF1, WAVE1 complex, neurodevelopmental disorder, autism, seizures, lamellipodia, actin cytoskeleton, recurrent de novo truncating mutations, developmental delay

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10051436/1/Gale%20VoR%201-s2.0-S0002929718301940-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10051436Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10051436/1/Gale%20VoR%201-s2.0-S0002929718301940-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10051436Test/

المؤلفون: Peddareddygari, Leema Reddy, Baisre-de León, Ada, Grewal, Raji P

المصدر: Acta Myologica

مصطلحات موضوعية: susceptibility mutation, TTN gene truncating mutations, Case Reports, cardiomyopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::23aaf3e18482e8b9b1520aafff62bcf2Test
http://europepmc.org/articles/PMC8033428Test

المؤلفون: de Geus, Christa M., Free, Rolien H., Verbist, Berit M., Sival, Deborah A., Blake, Kim D., Meiners, Linda C., Ravenswaaij-Arts, Conny M. A. van

المصدر: de Geus , C M , Free , R H , Verbist , B M , Sival , D A , Blake , K D , Meiners , L C & Ravenswaaij-Arts , C M A V 2017 , ' Guidelines in CHARGE syndrome and the missing link : Cranial imaging ' , American Journal of Medical Genetics. Part C-Seminars in Medical Genetics , vol. 175 , no. 4 , pp. 450-464 . https://doi.org/10.1002/ajmg.c.31593Test

مصطلحات موضوعية: CHARGE syndrome, CHD7, CT, guidelines, MRI, COCHLEAR NERVE DEFICIENCY, KALLMANN-SYNDROME, CHD7 MUTATIONS, TRUNCATING MUTATIONS, DIAGNOSTIC-CRITERIA, TEMPORAL BONE, RISK-FACTORS, MAJOR CAUSE, ASSOCIATION, CHILDREN

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/8f404331-fce7-4c7d-98cf-dbe97bea2304Test

الإتاحة: https://doi.org/10.1002/ajmg.c.31593Test
https://hdl.handle.net/11370/8f404331-fce7-4c7d-98cf-dbe97bea2304Test
https://research.rug.nl/en/publications/8f404331-fce7-4c7d-98cf-dbe97bea2304Test
https://pure.rug.nl/ws/files/51924996/Geus_et_al_2017_American_Journal_of_Medical_Genetics_Part_C_Seminars_in_Medical_Genetics.pdfTest

المؤلفون: Castelletti, S, Vischer, AS, Syrris, P, Crotti, L, Spazzolini, C, Ghidoni, A, Parati, G, Jenkins, S, Kotta, M-C, McKenna, WJ, Schwartz, PJ, Pantazis, A

المصدر: International Journal of Cardiology , 249 pp. 268-273. (2017)

مصطلحات موضوعية: Arrhythmogenic cardiomyopathy, DSP truncating mutations, Left ventricular dysfunction, Ventricular arrhythmias

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1556429/1/1-s2.0-S0167527317305788-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1556429Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1556429/1/1-s2.0-S0167527317305788-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1556429Test/

المؤلفون: Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees

المصدر: Neurobiology of Disease, Vol 64, Iss , Pp 131-141 (2014)

مصطلحات موضوعية: GABAA receptors, Epilepsy, Protein truncating mutations, Receptor trafficking, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996113003574Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/dc9b7994a81047c3aaaafe890e39676eTest

المؤلفون: Sanjuan-Ruiz, Inmaculada, Govea-Perez, Noé, Mcalonis-Downes, Melissa, Dieterle, Stéphane, Megat, Salim, Dirrig-Grosch, Sylvie, Picchiarelli, Gina, Piol, Diana, Zhu, Qiang, Myers, Brian, Lee, Chao-Zong, Cleveland, Don, Lagier-Tourenne, Clotilde, da Cruz, Sandrine, Dupuis, Luc

المساهمون: Mécanismes Centraux et Périphériques de la Neurodégénérescence, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of California [San Diego] (UC San Diego), University of California, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Harvard Medical School [Boston] (HMS), Dieterle, Stéphane, University of California (UC)

المصدر: Molecular Neurodegeneration
Molecular Neurodegeneration, BioMed Central, 2021, 16 (1), pp.61. ⟨10.1186/s13024-021-00477-w⟩
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-14 (2021)
Molecular Neurodegeneration, 2021, 16 (1), pp.61. ⟨10.1186/s13024-021-00477-w⟩

مصطلحات موضوعية: Cytoplasm, [SDV]Life Sciences [q-bio], RNA-binding proteins, Autoregulation, Mice, Transgenic, PHENOTYPE, Fronto-temporal dementia, Mouse models, Mice, BINDING, RNA Precursors, ZEB1, Animals, Humans, TRUNCATING MUTATIONS, Transgenes, RC346-429, Alleles, FUS, Science & Technology, MISSENSE, Amyotrophic Lateral Sclerosis, Genetic Complementation Test, Neurosciences, RC952-954.6, Amyotrophic lateral sclerosis, TRANSPORTIN, Introns, Recombinant Proteins, [SDV] Life Sciences [q-bio], Disease Models, Animal, Gene Expression Regulation, FTLD-FUS, Geriatrics, Frontotemporal Dementia, Mutation, RNA-Binding Protein FUS, MOTOR-NEURON DEGENERATION, Genes, Lethal, Neurosciences & Neurology, Neurology. Diseases of the nervous system, Therapy, MESSENGER-RNA, Life Sciences & Biomedicine, FUS/TLS, Research Article, Protein Binding

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::be28404c1db1f965f6058231e8bd2aa8Test
http://europepmc.org/articles/PMC8419956Test

المؤلفون: Savarese, Marco, Vihola, Anna, Oates, Emily C., Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Diaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-Garcia, Ricardo, Saenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Valipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo Lopez, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vilchez, Juan J., Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne

المساهمون: Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Folkhälsan Research Center, Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Fimlab Laboratories Tampere, Finland, School of Biotechnology and Biomolecular Sciences, University of New South Wales Sydney (UNSW), Translational and Clinical Research Institute, Newcastle University, IRCCS Istituto Giannina Gaslini Genoa, Italy, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Tampere University Hospital, MRC Centre for Neuromuscular Diseases, University College of London London (UCL), Huashan Hospital Shangai, CIBER de Enfermedades Raras (CIBERER), Uppsala University, Biodonostia Health Research Institute, Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Service d'Explorations Fonctionnelles Respiratoires, Groupement Hospitalier Nord, Hôpital de la Croix-Rousse (Hospices Civiles de Lyon), Lyon, France, parent, Università degli studi della Campania "Luigi Vanvitelli" = University of the Study of Campania Luigi Vanvitelli, IRCCS Fondazione Stella Maris Pisa, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Università degli Studi di Siena = University of Siena (UNISI), Uppsala University Hospital, QEII Medical Centre

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: TIBIAL MUSCULAR-DYSTROPHY, C-TERMINAL TITIN, TRUNCATING MUTATIONS, TTN, GENE, MYOPATHY, VARIANT, LINE, EXPRESSION, SEQUENCE, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32778822; hal-03300419; https://cnrs.hal.science/hal-03300419Test; PUBMED: 32778822; WOS: 000558120400001

الإتاحة: https://doi.org/10.1038/s41436-020-0914-2Test
https://cnrs.hal.science/hal-03300419Test