-
1
المؤلفون: Silvia Maitz, Elisa Rahikkala, Wayne Lam, Pedro A. Sanchez-Lara, Katherine Lachlan, Melissa Lees, Katherine L. Nathanson, Chey Loveday, Lionel Van Maldergem, Shane McKee, Dragana Josifova, Sally Ann Lynch, Katrina Tatton-Brown, Michael Parker, Ana Beleza-Meireles, Andrew G. L. Douglas, Sarina G. Kant, Philip J. Ostrowski, Tyler Mark Pierson, Yvonne Hilhorst-Hofstee, Sofia Douzgou, Kay Metcalfe, Marta Bertoli, Charlotte W. Ockeloen, Usha Kini, Diana Johnson, John Dean, Alice Spano, Trevor Cole, Alison Foster, Jennifer Hague, John M. Graham, Ian O. Ellis, Anna Zachariou, Mariëtte J.V. Hoffer
المصدر: American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 4, pp. 557-564
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 181, 557-564
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. WILEY
American Journal of Medical Genetics Part C: Seminars in Medical Geneticsمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Scoliosis, macrocephaly, Young Adult, CHD8, Intellectual disability, Genetics, medicine, Humans, Child, overgrowth, Genetics (clinical), Growth Disorders, business.industry, Macrocephaly, Infant, Syndrome, medicine.disease, Cadherins, Umbilical hernia, Neonatal hypotonia, Phenotype, intellectual disability, Overgrowth syndrome, Child, Preschool, Autism, Female, Differential diagnosis, medicine.symptom, business, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3264e73bb704ac5d8c7608f78ec2c1b6Test
https://doi.org/10.1002/ajmg.c.31749Test -
2
المؤلفون: Mark Busby, Rita Barresi, L. Phillips, Tiziana Mongini, Hacer Durmus, Jonathan Baets, Fiona Norwood, Judith N Hudson, James Miller, Peter De Jonghe, Shahriar Nafissi, Katherine Johnson, Ana Töpf, Monkol Lek, Stojan Peric, Daniel G. MacArthur, Marta Bertoli, Willem De Ridder, Shirin Jamal-Omidi, Vidosava Rakocevic Stojanovic, Volker Straub, Tine Deconinck, Anna Łusakowska
المصدر: Journal of neurology, neurosurgery and psychiatry
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myopathy, Ubiquitin-Protein Ligases, Nonsense mutation, Population, Ethnic Groups, Muscle disorder, Muscular Dystrophies, Frameshift mutation, Tripartite Motif Proteins, 03 medical and health sciences, Limb-Girdle, 0302 clinical medicine, Muscular Diseases, Missense mutation, Medicine, Humans, Muscular dystrophy, education, Exome sequencing, Muscle disease, education.field_of_study, Neuromuscular, Female, Magnetic Resonance Imaging, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Transcription Factors, business.industry, Skeletal, medicine.disease, 3. Good health, Psychiatry and Mental health, Muscle, Surgery, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cfdfc1be3263ac26ee02f4f736fa0bTest
http://hdl.handle.net/2318/1786348Test -
3
المؤلفون: Matt Parton, Wei Wei Liu, Maryam Sedghi, Andrew M. Schaefer, Maria Elena Farrugia, Katsiaryna Belaya, Susan Maxwell, Jacqueline Palace, Hanns Lochmüller, Simon J. McGowan, Keivan Basiri, Anna Sarkozy, Wyatt W. Yue, Kate Bushby, Matthew Pitt, David Beeson, Richard E. Petty, Timothy J. Walls, Pedro M. Rodríguez Cruz, Marta Bertoli, Robin Kennett, Francesco Muntoni
المصدر: Brain
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Weakness, glycosylation, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neuromuscular Junction, GMPPB, Transfection, Neuromuscular junction, dystroglycan, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Myopathy, Dystroglycans, Muscle, Skeletal, 030304 developmental biology, Family Health, Myasthenic Syndromes, Congenital, 0303 health sciences, business.industry, neurotransmission defect, DPAGT1, Original Articles, Congenital myasthenic syndrome, medicine.disease, Magnetic Resonance Imaging, Nucleotidyltransferases, 3. Good health, medicine.anatomical_structure, HEK293 Cells, congenital myasthenic syndrome, Immunology, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caad57ca8c6d0ca5b81ac994de9e2ceTest
http://europepmc.org/articles/PMC4547052Test -
4
المؤلفون: S. Richardson, E. Kimber, H. Kim, Diana Castro, H. Johnson, A. C. Tesi Rocha, Matthias Eckenweiler, C. Manzitti, John W. Day, R. De Sanctis, M. Gormley, Mar Tulinius, Mirac Yildirim, C. M. Temucin, M. Gratacos Vinola, S. Matsumaru, F. Weber-Guzman, J. Kitsuwa-Lowe, Lavinia Fanelli, T. Sato, W. C. Virginia, J. H. Hsu, S. Nagata, A. Michoulas, Sally Dunaway, Mariacristina Scoto, R. Shell, R. Laine, D. DiBella, C. King, Jacqueline Montes, Haluk Topaloglu, Maryam Oskoui, Didem Ardicli, K. Rupprich, C. Stella, F. Dorban, Alan C Farrow-Gillespie, S. A. Choi, T. Ikai, W. C. Liang, N. Matsushima, PH Lister, Arnaud Vanlander, N. Rausch, T. T. Duong, Marika Pane, Melissa Gibbons, M. M. Homi, A. K. Kroksmark, B. Andres, Kristin J. Krosschell, S. Patnaik, L. Welsh, Eduardo F. Tizzano, M. Gallardo, Michèle Mayer, Sarada Sakamuri, W. Liew, T. Spain, M. Yang, Kayoko Saito, Edward C. Smith, L. Sanabria, Astrid Pechmann, H. Kaneko, Leslie Nelson, Basil T. Darras, C. Milleson, Janbernd Kirschner, R. Arakawa, Margot Morrison, Y. Kaburagi, P. Dinunzio, C. K.W. Joseph, M. Chadehumbe, Craig M. Zaidman, S. Nicolarsen, Hyung Ik Shin, Alberto Garaventa, James J. Dowling, J. S. Lee, K. Booker, A. Takeshita, D. McElroy, K. Carroll, D. Vens, Y. Chiba, L. Wand, C. Kelly, Luke Smith, H. Shimomura, M. Srour, J. B. Bodensteriner, B. Rippberger, A. Herbert, Eugenio Mercuri, H. Jo, J. Turner, A. Camuto, N. Parziale, J. O'Brien, N. Nelson, E. Serdaroglu, Jong-Hee Chae, V. Tahon, E. Toro Tamargo, L. Weimer, T. Voit, L. W.M. Wendy, J. Rambaud, G. Gilbert, C. Zimmerman, S. Kramer, D. McFall, Jennifer Perez, N. Berthon-Jones, Jessica Taytard, Marco Luigetti, J. Pisco Domingos, R. Van Der Looven, Genevieve D'Souza, C. Berde, E. Roland, M. de Los Angeles Tormos Munoz, J. Zigmont, S. Baily, S. Gilabert, H. Nakatsukasa, S. Trest, Bahadır Konuşkan, H. A. Ferreira Sampaio, Z. John Zhong, G. VanderVeen, V. Allen, C. Aguilar, N. Taniguchi, G. Ordonez, Elizabeth Kichula, F. Shu, M. N. Chui-San, M. Zinn, Anne M. Connolly, Ian R. Woodcock, Ayşe Karaduman, R. Haldenby, K. Hirasawa, F. Munell Casadesus, L.D.M. Peña, Vamshi K. Rao, Allan M. Glanzman, Claudia A. Chiriboga, A. Martinez Bermejo, John F. Brandsema, S. Epinosa Garcia, M. K. Schroth, T. Shibano, Richard Gee, Valeria Ricotti, Y. Ito, Y. Tanaka, S. Arpin, C. S. Yan, L. Schottlaender, Marco Piastra, M. Kauk, Francesco Muntoni, K. Sugimoto, Öznur Yilmaz, K. DeCock, Kathryn Selby, T. Yanagishita, Concetta Palermo, H. W. Chung, B. Taicher, Jiri Vajsar, K. Zilke, R. Gadeken, A. Yamauchi, Marta Bertoli, Nancy L. Kuntz, T. Tachikawa, C. Johnson, A. Mayhew, Jahannaz Dastgir, Y. J. Jong, P. C. Chou, G. Rivera, T. N. Shun, Y. H. Ju, N. Holuba La Marca, M. Toms, Matthew Civitello, Eugene Schneider, C. Lilien, S. Ito, C. Skura, Y. Yvonne, K. O'Reardon, Barry S. Russman, Janet Quigley, J. W. Said, B. Planas Pascual, R. J. Ramamurthi, Wildon Farwell, V. Selby, W. Y. Connie, M. Souris, Nicholas E. Johnson, M. Miki, N. Sponemann, Andrei Constantinescu, K. Mayne, H. H. Shih, B. Sanjanwala, Teresa Gidaro, D. Berry, Gihan Tennekoon, A. G. Le Moing, Danielle Ramsey, C. Poulin, S. Goldman, K. Watson, H. L. Teoh, N. J. Palacios, Tai-Heng Chen, A. C. Chung, Terri Carry, J. Coates, D. Zielinski, R. Vialle, F. G. Yildiz Sarikaya, Marcus Krüger, M. del Mar Garcia Romero, E. Michael, E. D. Austin, J. Janas, K. Engelstad, S. Y. Kim, M. Alavarez Molinero, Leon G. Epstein, Monique M. Ryan, Jean Flickinger, D. Benjamin, S. Wider, C. S. Davis, Jena M. Krueger, I. J.K. Janice, Darryl C. De Vivo, M. del Mar Melendez Plumed, Y. Takeshima, C. Gunbey, Serena Sivo, A. Christiaens, Q. Ollievier, Elizabeth Mirek, D. Stanford, Susan T. Iannaccone, Jonathan E. Kurz, D. Cook, C. S. Ng, A. Koka, V. Chau, M. del Pilar Tirado Requero, M. B. Gomez Garcia de la Banda, E. M. Yiu, Amy Pasternak, Rosangel Cruz, S. So, S. I. Pascual Pascual, V. G. Haliloglu, E. S. Schroers, P. Jachertz, C. Ortiz-Miller, Sandra Coppens, J. Lee, M. Popolizio, Michael Doumit, Rachel Salazar, Michelle A. Farrar, Peter G. Fuhr, M. Pedermonte, L. S. Lord-Halvorson, W. Leon, Y. S. Zeng, L. D'Argenzio, Russell J. Butterfield, C. Blomgren, Erika Finanger, S. Shea, Paola Tacchetti, N. Y. Ki, H. W. Choi, K. Oriyama, S. Wittevrongel, Catherine Siener, K. Mizuochi, M. Cowie, R. Van Coster, E. Gargaun, S. M. Scuplak, Sibylle Vogt, S. Stein, Tim Harrington, P. M. Ingelmo, J. Wootton, M. Tanyildiz, A. F. Rucian, Jonathan Marra, C. Frank Bennett, Claire L Wood, Nicolas Deconinck, Adnan Y. Manzur, Helene Verhelst, B. Purse, P. L. Léger, J. Cappell, S. Aziz-Zaman, H. Y. Wang, Claudio Bruno, S. Garcia Guixot, Robert Muni Lofra, Federica Trucco, S. M. Chun, Catherine E. Roberts, Ulrike Schara, Walter G. Bradley, K. L. De Valle, E. De Vos voor, S. Borell, A. Lim, Sophelia H. S. Chan, L. Rao, M. Shichiji, S. Rooze, T. M. Newcomb, Fouad Al-Ghamdi, Chiara Fiorillo, J. D. Endsley, L. Y. Sigurdardottir, Pallavi Anand, A. Zuffi, Julie A. Parsons, M. Kasper, A. Nishikawa, Sarah Gheuens, S. Turgeon-Desilet, T. Fujino, L. Staudt, Y. C. Wu, Jacinda B. Sampson, Paola Lanteri, Stephanie DeArmey, Partha S. Ghosh, Alexandra C. Ross, L. Adang, Laurent Servais, V. Tran, Alan Bielsky, Y. Otani, Navil F. Sethna, J. Hen, Perry B. Shieh, N. Fukuda, N. Miller, K. Eto, S. Paulose, Niklas Darin, C. Sabapathy, Robert J. Graham, Christopher Proud, Richard S. Finkel, Alexander G. Khandji, A. Della Marina, Adrian Murphy, Kathie M. Bishop, Tejaswi Kandula, Valentina Lanzillotta, Heather Szelag, Kalliopi Sofou, Y. H. Chou, Heike Koelbel, J. Eldblom, T. Lee, M. M. Martinez Moreno, Volker Straub, Laura E. Case, A. Lindstedt, G. Gili, A. Frank, H. C.C. Alvin, A. Ganfuss, Karen Herbert, Paul T. Golumbek, D. Villano, B. Wenderickx, B. C. Lim, W. S. Son
المساهمون: Schara, Ulrike (Beitragende*r), Ganfuss, Andrea (Beitragende*r), Koelbel, Heike (Beitragende*r), Rupprich, Katrin (Beitragende*r), Schroers, Ester Sarah (Beitragende*r), Sponemann, Nina (Beitragende*r), Çocuk Sağlığı ve Hastalıkları
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Movement disorders, animal diseases, Messenger, Oligonucleotides, Medizin, Spinal Muscular Atrophies of Childhood, 0302 clinical medicine, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Survival Analysis, Survival of Motor Neuron 2 Protein, Medicine (all), Respiration, General Medicine, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Artificial, Nusinersen, medicine.symptom, medicine.medical_specialty, Spinal, Injections, 03 medical and health sciences, Atrophy, General & Internal Medicine, Settore MED/41 - ANESTESIOLOGIA, medicine, Antisense, Survival analysis, business.industry, Spinal muscular atrophy, Motor neuron, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, RNA, Infantile onset, Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1902aea91371408a707bf0d8e637462Test
https://www.ncbi.nlm.nih.gov/pubmed/29091570Test -
5
المؤلفون: F. Muntoni, P. Goldsmith, V. Straub, K. Bushby, Marta Bertoli, Anna Sarkozy, Hanns Lochmüller, R. Barresi, Teresinha Evangelista, A. Schaefer
المصدر: Neuromuscular Disorders. 24:915-916
مصطلحات موضوعية: Weakness, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, Compound heterozygosity, Bioinformatics, Epilepsy, Neurology, Pediatrics, Perinatology and Child Health, medicine, Myoclonic epilepsy, Neurology (clinical), Global developmental delay, Muscular dystrophy, medicine.symptom, business, Genetics (clinical), Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e195fe5c4c4dd2b01082e7e28da411e2Test
https://doi.org/10.1016/j.nmd.2014.06.403Test