المؤلفون: Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik Niks, Roula Tsonaka, Anja Persson, Annemieke Aartsma‐Rus, Peter Nilsson, Cristina Al‐Khalili Szigyarto, Pietro Spitali

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 2, Pp 505-517 (2020)

مصطلحات موضوعية: Duchenne muscular dystrophy, Protein biomarkers, Prognostic biomarker, Rare diseases, Serum biomarkers, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test

الوصول الحر: https://doaj.org/article/279f86f1eb524b11a1cf2dcdaf841012Test

المؤلفون: Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri

المساهمون: Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34170974; volume:16; firstpage:1; lastpage:13; numberofpages:13; journal:PLOS ONE; http://hdl.handle.net/2318/1806660Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882Test
http://hdl.handle.net/2318/1806660Test

المؤلفون: Anna Sarkozy, Rosaline Quinlivan, John P. Bourke, Alessandra Ferlini, Inès Barthélémy, Linda H Cripe, Emily Reuben, Teresinha Evangelista, Anca Florian, Josh Gribnau, Lidia Gonzalez-Quereda, Michela Guglieri, Erik Niks, Rahul Phadke, Luisa Politano, Ros Quinlivan, John Vissing, Nicol Voermans, Elizabeth Vroom, Aleksandra Pietrusz, Fernanda Fortunato, Saskia Houwen

المساهمون: Developmental Biology

المصدر: Neuromuscular Disorders, 33, 3, pp. 274-284
Neuromuscular Disorders, 33(3), 274-284. Elsevier Ltd.
Neuromuscular Disorders, 33, 274-284

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69bd2696a88b88f3d6bd19b8d6ad2ac1Test
https://doi.org/10.1016/j.nmd.2023.01.003Test

المؤلفون: Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa B. Lomax, Courtney Kiss, Fabrice Bartolomei, Anne F. Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

مصطلحات موضوعية: DEPDC5, mTORC1 pathway, Genetic focal epilepsy, Focal cortical dysplasia, SUDEP

العلاقة: 10779/aru.23779713.v1; https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713Test

الإتاحة: https://figshare.com/articles/journal_contribution/The_landscape_of_epilepsy-related_GATOR1_variants/23779713Test

المؤلفون: Camilla Johansson, Helian Hunt, Mirko Signorelli, Fredrik Edfors, Andreas Hober, Anne-Sophie Svensson, Hanna Tegel, Björn Forstström, Annemieke Aartsma-Rus, Erik Niks, Pietro Spitali, Mathias Uhlén, Cristina Al-Khalili Szigyarto

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cb672e9c3af49befb6244d885e65deaTest
https://doi.org/10.21203/rs.3.rs-2285032/v1Test

المؤلفون: Nienke M. Van de Velde, Jurriaan De Groot, Erik Niks, Melissa Hooijmans, Thom Veeger, Kevin Keene, Andrew Webb, Hermien Kan

المساهمون: Radiology and Nuclear Medicine, AMS - Ageing & Vitality, AMS - Sports

المصدر: NMR in Biomedicine, 35(7). WILEY
NMR in biomedicine, 35(7):e4691. John Wiley and Sons Ltd

مصطلحات موضوعية: Adult, MRS, Magnetic Resonance Imaging, muscle degeneration/disease progression, Muscular Dystrophy, Duchenne, Adenosine Triphosphate, Adipose Tissue, Dixon, Disease Progression, Humans, Molecular Medicine, Dixon, mixed-effects model, MRI, MRS, muscle degeneration/disease progression, Radiology, Nuclear Medicine and imaging, Muscle, Skeletal, mixed-effects model, Spectroscopy, MRI

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82260761046e46703156a090db8abb84Test
http://hdl.handle.net/1887/3276366Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/figure/Mean_NSAA_changes_in_the_subgroups_amenable_to_skip_exons_44_45_51_and_53_according_to_age_/14848560Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.g001Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/dataset/Details_of_the_NSAA_in_the_study_cohort_subdivided_by_TRF_at_baseline_6_or_6_years_/14848572Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.t002Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/dataset/Details_of_the_NSAA_in_the_study_cohort_and_subdivided_by_age_at_baseline_7_or_7_years_/14848569Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.t001Test

المؤلفون: Giorgia Coratti (3142176), Marika Pane (289244), Claudia Brogna (783545), Valeria Ricotti (621813), Sonia Messina (289253), Adele D’Amico (289256), Claudio Bruno (289284), Gianluca Vita (3177801), Angela Berardinelli (289251), Elena Mazzone (3777181), Francesca Magri (289272), Federica Ricci (3210738), Tiziana Mongini (289278), Roberta Battini (289280), Luca Bello (289265), Elena Pegoraro (289281), Giovanni Baranello (507019), Stefano C. Previtali (11027655), Luisa Politano (289286), Giacomo P. Comi (11027658), Valeria A. Sansone (6876743), Alice Donati (6876746), Jean Yves Hogrel (11027661), Volker Straub (251869), Silvana De Lucia (9951812), Erik Niks (11027664), Laurent Servais (281540), Imelda De Groot (11027667), Mary Chesshyre (11027670), Enrico Bertini (156405), Nathalie Goemans (503769), Francesco Muntoni (228210), Eugenio Mercuri (289290)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Evolutionary Biology, Developmental Biology, Marine Biology, Cancer, Science Policy, Mental Health, Infectious Diseases, exon 51, Discussion Mutations, baseline values, report 36- month, 53. Materials, North Star Ambulatory Assessment, NSAA, ambulant patients, exons 53, exon 52. Results, North Star Ambulatory Assessment ch., 36 months, 3 year, 101 patients, ambulant Duchenne boys, subgroups, exon 44

العلاقة: https://figshare.com/articles/figure/Individual_NSAA_trajectories_with_details_of_the_mutations_within_skipping_subgroups_/14848566Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253882.g002Test