-
1
المؤلفون: Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, Dylan Trundell
المصدر: LANCET NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Adult, Risdiplam, spinal muscular atrophy, Adolescent, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Young Adult, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Child, Preschool, Humans, Neurology (clinical), Child, Preschool, Azo Compounds, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917024073c62a8e3c3c8eedaa6f463bbTest
https://doi.org/10.1016/s1474-4422Test(21)00367-7 -
2
المؤلفون: Claudio Bruno, Gian Luca Vita, Jacqueline Montes, Maria Sframeli, Tina Duong, Valeria Sansone, Annalia Frongia, Mariacristina Scoto, John W. Day, Francesco Muntoni, Giorgia Coratti, Enrico Bertini, Jessica Exposito Escudero, Simona Lucibello, Marika Pane, Sonia Messina, Allan M. Glanzman, Eugenio Mercuri, Roberto De Sanctis, Elena S. Mazzone, Anna Mayhew, Laura Antonaci, Francesca Bovis, Andrés Nascimento Osorio, Matthew Civitello, Sara Carnicella, Rachel Salazar, Richard S. Finkel, Chiara Marini Bettolo, Adele D'Amico, Nathalie Goemans, Robert Muni Lofra, Darryl C. De Vivo, Marleen Van den Hauwe, Maria Carmela Pera, Evelin Milev, Amy Pasternak, Sally Dunaway Young, Emilio Albamonte, Basil T. Darras
المصدر: ANNALS OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Longitudinal study, Adolescent, Models, Neurological, Gene Dosage, Spinal Muscular Atrophies of Childhood, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Age of Onset, Child, Child, Preschool, Disease Progression, Female, Humans, Survival of Motor Neuron 2 Protein, Models, Internal medicine, medicine, Preschool, business.industry, Repeated measures design, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Neurological, Cohort, Neurology (clinical), sma, Age of onset, business, 030217 neurology & neurosurgery, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7eff96e16ed9ca4d83cccff947b5eecTest
https://doi.org/10.1002/ana.25900Test -
3
المؤلفون: Rocio N, Villar-Quiles, Maja, von der Hagen, Corinne, Métay, Victoria, Gonzalez, Sandra, Donkervoort, Enrico, Bertini, Claudia, Castiglioni, Denys, Chaigne, Jaume, Colomer, Maria Luz, Cuadrado, Marianne, de Visser, Isabelle, Desguerre, Bruno, Eymard, Nathalie, Goemans, Angela, Kaindl, Emmanuelle, Lagrue, Jürg, Lütschg, Edoardo, Malfatti, Michèle, Mayer, Luciano, Merlini, David, Orlikowski, Ulrike, Reuner, Mustafa A, Salih, Beate, Schlotter-Weigel, Mechthild, Stoetter, Volker, Straub, Haluk, Topaloglu, J Andoni, Urtizberea, Anneke, van der Kooi, Ekkehard, Wilichowski, Norma B, Romero, Michel, Fardeau, Carsten G, Bönnemann, Brigitte, Estournet, Pascale, Richard, Susana, Quijano-Roy, Ulrike, Schara, Ana, Ferreiro
المصدر: Neurology
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Muscle Proteins, Middle Aged, Article, Young Adult, Muscular Diseases, Child, Preschool, Humans, Female, Child, Selenoproteins, Follow-Up Studies, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e88560683abbf952be2edde6fc9cd071Test
https://pubmed.ncbi.nlm.nih.gov/32796131Test -
4
المؤلفون: Hilde Van Esch, Luc Dehaspe, Kristl G. Claeys, Joris Vermeesch, Nathalie Goemans, Thomy de Ravel, Kris Van Den Bogaert, Valerie Race, Hilde Peeters, Eric Legius, Jazz Storms, Koenraad Devriendt, Nathalie Brison, Darine Villela, Liesbeth De Waele
المساهمون: Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, endocrine system diseases, Noninvasive Prenatal Testing, Population, Sequence Analysis, DNA/ethics, 030105 genetics & heredity, DNA Copy Number Variations/genetics, Noninvasive Prenatal Testing/ethics, Dystrophin, 03 medical and health sciences, Prenatal Diagnosis, Prenatal Diagnosis/ethics, mental disorders, medicine, Humans, Copy-number variation, education, Genetics (clinical), Genetics, Dystrophin/genetics, Pregnancy, education.field_of_study, Incidental Findings, business.industry, Sequence Analysis, DNA, medicine.disease, Pathogenicity, fetus, NIPS, 030104 developmental biology, Prenatal screening, Dmd gene, secondary findings, Female, pregnancy, business, DMD gene, maternal CNV
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b58ddfaa22b0a77211f3e82a0ce36e8Test
https://lirias.kuleuven.be/handle/123456789/638443Test -
5
المؤلفون: Sofie Symoens, Riet De Rycke, Nathalie Goemans, Delfien Syx, Tibbe Dhooge, Anne Destree, Fransiska Malfait, Florence Petit, Sarah Delbaere, Olivier Vanakker
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)
مصطلحات موضوعية: Adult, Collagen Type XII, Male, Adolescent, Decorin, Collagen Type VI, Compound heterozygosity, Tenascin X, Extracellular matrix, Muscular Diseases, Protein Domains, Collagen VI, medicine, Humans, Child, Genetics (clinical), Cells, Cultured, biology, High-Throughput Nucleotide Sequencing, Tenascin, Sequence Analysis, DNA, medicine.disease, Molecular biology, Exon skipping, Extracellular Matrix, Pedigree, Fibronectin, Ehlers–Danlos syndrome, Child, Preschool, Mutation, biology.protein, Ehlers-Danlos Syndrome, Female, Collagen Type V
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7dab76dd98e837602a64e4f4f0320f7Test
https://pubmed.ncbi.nlm.nih.gov/31273343Test -
6
المؤلفون: S. de Kimpe, D. de Klerk, Monika Hiller, Jan J.G.M. Verschuuren, Annemieke Aartsma-Rus, R. Jean-Baptiste, Francesco Muntoni, Mar Tulinius, Afrodite Lourbakos, Peter Nilsson, Zaïda Koeks, K. Kozaczynska, G. Campion, Nathalie Goemans, Pietro Spitali, Burcu Ayoglu, Ron Wolterbeek, Vishna Devi Nadarajah, N. Yau, Peter A C 't Hoen, Erik H. Niks, Mojgan Reza, Hanns Lochmüller, P. de Bruijn, C. Al-Khalili Szigyarto, Irina Zaharieva
المصدر: Scientific Reports
Scientific Reports, 7
Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Adolescent, government.form_of_government, Duchenne muscular dystrophy, Placebo-controlled study, lcsh:Medicine, Muscle disorder, Article, Dystrophin, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Double-Blind Method, Internal medicine, Medicine, Humans, Longitudinal Studies, Muscular dystrophy, lcsh:Science, Child, Drisapersen, Randomized Controlled Trials as Topic, Antisense therapy, Multidisciplinary, biology, business.industry, lcsh:R, Exons, Oligonucleotides, Antisense, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, Clinical Trials, Phase III as Topic, Matrix Metalloproteinase 9, Child, Preschool, government, biology.protein, lcsh:Q, Female, business, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e00690df27119c632541d5bb3e76d3aTest
https://hdl.handle.net/1887/115152Test -
7
المؤلفون: Janbernd Kirschner, S. Fontaine-Carbonnel, Giuseppe Vita, Enrico Bertini, François Rivier, Nathalie Goemans, W. Ludo van der Pol, Mariacristina Scoto, Brigitte Chabrol, Carole Vuillerot, Helen Roper, Alessandra Govoni, Maggie C. Walter, Jeppe Buchbjerg, Anna Lusakowska, Ulrike Schara, Eugenio Mercuri, Jean Louis Abitbol, Thomas Blaettler, Nicolas Deconinck, Michela Guglieri, Eduardo Vianna, Claudio Bruno, Jean Marie Cuisset, Francesco Muntoni, Carol Reid, Eric Dessaud, Hanns Lochmüller, Giacomo P. Comi, Brigitte Estournet, Patricia Sanwald Ducray, Carole André, Francesca Magri, Bruno Scherrer, Leonard H. van den Berg, Paulo Fontoura, Ksenija Gorni, Wolfgang Müller-Felber, Michèle Mayer
المساهمون: Schara, Ulrike (Beitragende*r)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Medizin, Phases of clinical research, Spinal Muscular Atrophies of Childhood, Placebo, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, Outcome Assessment (Health Care), 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Randomized controlled trial, Double-Blind Method, law, Outcome Assessment, Health Care, Clinical endpoint, medicine, Humans, Mobility Limitation, education, Adverse effect, Child, Preschool, Cholestenones, education.field_of_study, business.industry, Child, Preschool, Female, Neuroprotective Agents, Neurology (clinical), Clinical trial, 030104 developmental biology, chemistry, N/A, Olesoxime, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bad810ec4902101d89d04fe23c17c79Test
http://hdl.handle.net/11570/3114831Test -
8
المؤلفون: Elke Braat, Olivier Gheysens, Karolien Goffin, Hans Pottel, Liesbeth De Waele, Pieter Vermeersch, Liesbeth Hoste, Nathalie Goemans, Elena Levtchenko
المصدر: Neuromuscular disorders : NMD. 25(5)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Ambulatory blood pressure, Adolescent, Urinary system, Urinary Bladder, Urology, Renal function, Blood Pressure, Kidney, chemistry.chemical_compound, Young Adult, Interquartile range, medicine, Humans, Prospective Studies, Child, Genetics (clinical), Ultrasonography, Creatinine, biology, business.industry, Surgery, Muscular Dystrophy, Duchenne, medicine.anatomical_structure, Blood pressure, Neurology, Cystatin C, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), business, Glomerular Filtration Rate
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907266d16867e2fc5f5226e18568d122Test
https://pubmed.ncbi.nlm.nih.gov/25683700Test -
9
المؤلفون: Nathalie Goemans, Matthias Mörgelin, Kathryn N. North, Rachel A. Peat, Shireen R. Lamandé, John F. Bateman, Naomi L. Baker
المساهمون: University of Groningen
المصدر: Human Molecular Genetics, 14(2), 279-293. Oxford University Press
مصطلحات موضوعية: Adult, IN-FRAME DELETION, VONWILLEBRAND-FACTOR, TRIPLE-HELIX, Ullrich congenital muscular dystrophy, BETHLEM-MYOPATHY, ENDOPLASMIC-RETICULUM, Genes, Recessive, Collagen Type VI, Biology, medicine.disease_cause, Compound heterozygosity, Muscular Dystrophies, MICROFIBRIL FORMATION, Collagen VI, Genetics, medicine, Humans, RNA, Messenger, Child, Molecular Biology, Genetics (clinical), Genes, Dominant, Mutation, MESSENGER-RNA DECAY, Bethlem myopathy, Infant, Muscle weakness, Heterozygote advantage, GLOBULAR DOMAINS, General Medicine, Fibroblasts, medicine.disease, OLIGOMERIZATION DOMAINS, Osteogenesis imperfecta, OSTEOGENESIS IMPERFECTA, Child, Preschool, Microfibrils, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4662eafe749a2b675730bdf29b58fcTest
https://research.rug.nl/en/publications/30a9d54f-1af2-4fc3-bc4a-2dadd46b6394Test -
10
المؤلفون: Johan L.K. Van Hove, Tony Reybrouck, Patrice Givron, Ann Meulemans, Sara Seneca, Joél Smet, Nathalie Goemans, Raphael Sciot, Rudy Van Coster
المساهمون: Department of Embryology and Genetics
المصدر: Vrije Universiteit Brussel
مصطلحات موضوعية: Adult, Mitochondrial DNA, Biopsy, DNA Mutational Analysis, Molecular Sequence Data, mitochondrial DNA, Mitochondrion, Biology, medicine.disease_cause, tRNA genes, DNA, Mitochondrial, Mitochondrial myopathy, Genetics, medicine, Humans, Point Mutation, Muscle, Skeletal, Genetics (clinical), RNA, Transfer, Asp, Mutation, Muscle biopsy, Base Sequence, medicine.diagnostic_test, Point mutation, mitochondrial myopathy, Mitochondrial Myopathies, exercise intolerance, medicine.disease, Molecular biology, Heteroplasmy, Biochemistry, Transfer RNA, tRNAAsp, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359b88304805283e61a6e85d64c57709Test
https://doi.org/10.1002/ajmg.a.30854Test