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

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

المؤلفون: Ulf-Peter Guenther, Raymonda Varon, Nathalie Goemans, Enrico Bertini, Christoph Hübner, Katja Grohmann, Adele D'Amico, Markus Schuelke

المصدر: Human Genetics. 115:319-326

مصطلحات موضوعية: Models, Molecular, Molecular Sequence Data, Locus (genetics), Spinal Muscular Atrophies of Childhood, Biology, Polymerase Chain Reaction, Frameshift mutation, Exon, Belgium, Genetics, Humans, Allele, Gene, Genetics (clinical), DNA Primers, Gene Rearrangement, Base Sequence, Intron, Infant, Sequence Analysis, DNA, Gene rearrangement, Molecular biology, DNA-Binding Proteins, Blotting, Southern, genomic DNA, Gene Components, Italy, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::721a515e6f6937583ee70179f1281162Test
https://doi.org/10.1007/s00439-004-1156-0Test

المؤلفون: Pascale Guicheney, Chantal Ceuterick-de Groote, Hans H. Goebel, Michel Fardeau, Carsten G. Bönnemann, Gudrun Schreiber, Folker Hanefeld, Ana Ferreiro, Jean-Jacques Martin, Jared J. Marks, Pascale Richard, Nathalie Goemans

المصدر: Annals of Neurology. 55:676-686

مصطلحات موضوعية: Genetics, 0303 health sciences, education.field_of_study, Pathology, medicine.medical_specialty, Selenoprotein N, Locus (genetics), Muscle disorder, Biology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Neurology, Crystallin, medicine, Desmin, Neurology (clinical), Muscular dystrophy, medicine.symptom, education, Myopathy, Gene, 030217 neurology & neurosurgery, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e0dddc57bf6cfdb5d239f874c1d31531Test
https://doi.org/10.1002/ana.20077Test

المؤلفون: Christoph Hübner, Robert A. Ouvrier, Haluk Topaloglu, Heidemarie Neitzel, Nathalie Goemans, Christina Steglich, Carmen Navarro, Piroschka Stolz, Francesco Muntoni, Friedrich Bosch, Enrico Bertini, Kate Bushby, Ulf-Peter Guenther, Hanns Lochmüller, Katja Grohmann, Stephan Eichholz, Padraic Grattan-Smith, Sabine Rudnik-Schöneborn, Markus Schuelke, Raymonda Varon, Coleen Adams, Lionel Van Maldergem, Tilman Polster, Catrin Janetzki, Klaus Zerres

المصدر: Annals of Neurology. 54:719-724

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, Respiratory distress, business.industry, Respiratory disease, Muscle weakness, Prenatal diagnosis, Spinal muscular atrophy, Sudden infant death syndrome, medicine.disease, Central nervous system disease, Degenerative disease, Neurology, medicine, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f886501dd7fe717ec4a61508065e4a1aTest
https://doi.org/10.1002/ana.10755Test

المؤلفون: F. Smeets, Katrijn Klingels, G. Buyse, M. Schraeyen, M. van den Hauwe, Nathalie Goemans

المصدر: Neuromuscular Disorders. 25:S228-S229

مصطلحات موضوعية: medicine.medical_specialty, Physical medicine and rehabilitation, Neurology, business.industry, Duchenne muscular dystrophy, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, medicine.disease, Genetics (clinical), Motor skill

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9992b08f53a6e5de77c79e842d69acb8Test
https://doi.org/10.1016/j.nmd.2015.06.160Test

المؤلفون: Nathalie Goemans, Gunnar Buyse

المصدر: Current Treatment Options in Neurology. 16

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Pediatrics, Neurology, business.industry, Duchenne muscular dystrophy, Cardiac muscle, Muscle degeneration, medicine.disease, Physical medicine and rehabilitation, medicine.anatomical_structure, medicine, Neurology (clinical), Muscular dystrophy, business, Progressive disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dc3917688b583166e6c5c885041956aTest
https://doi.org/10.1007/s11940-014-0287-4Test

المؤلفون: Claudio Bruno, Tiziana Mongini, Silvia Frosini, Sonia Messina, Enrica Rolle, Stefano C. Previtali, Francesca Gualandi, Roberto De Sanctis, Marika Pane, Gian Luca Vita, Filippo Cavallaro, Adele D'Amico, Paola D'Ambrosio, Angela Berardinelli, Roberta Battini, Luca Bello, Giovanni Baranello, Lucia Morandi, Giacomo P. Comi, Luisa Politano, Maria Teresa Arnoldi, Enrico Bertini, Elena S. Mazzone, Francesca Rossi, Concetta Palermo, Nathalie Goemans, Marlene Van der Haawue, Antonella Pini, Maria Alice Donati, Alessandra Ferlini, Yvan Torrente, Elena Pegoraro, Chiara Alfonsi, Roberta Scalise, Maria Pia Sormani, Eugenio Mercuri, Francesca Magri, Serena Bonfiglio, Michele Sacchini, Valentina Lanzillotta, Sara Napolitano, Lavinia Fanelli, Flaviana Bianco, Emanuela Viggiano

المساهمون: Pane, M, Mazzone, E, Sormani, Mp, Messina, S, Vita, Gl, Fanelli, L, Berardinelli, A, Torrente, Y, D'Amico, A, Lanzillotta, V, Viggiano, E, D'Ambrosio, P, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, Scalise, R, De Sanctis, R, Rolle, E, Bianco, F, Van der Haawue, M, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Alfonsi, C, Sacchini, M, Arnoldi, Mt, Baranello, G, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, Luisa, Comi, Gp, Bertini, E, Morandi, L, Gualandi, F, Ferlini, A, Goemans, N, Mercuri, E.

المصدر: Università Cattolica del Sacro Cuore-IRIS
PLoS ONE, Vol 9, Iss 1, p e83400 (2014)
PLoS ONE

مصطلحات موضوعية: Male, Time Factors, Duchenne muscular dystrophy, Muscular Dystrophies, Cohort Studies, Dystrophin, inglese, Muscular dystrophy, Child, Multidisciplinary, Statistics, Neuromuscular Diseases, Neurology, Child, Preschool, Cohort, Observational Studies, Medicine, Cohort study, Research Article, Test Evaluation, medicine.medical_specialty, Adolescent, Clinical Research Design, Science, Nonsense mutation, changes, Biostatistics, walking, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Genetic Mutation, Diagnostic Medicine, Internal medicine, medicine, Genetics, Humans, Biology, Clinical Genetics, business.industry, Point mutation, Human Genetics, X-Linked, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Mutation, Physical therapy, Observational study, business, Mathematics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b97d75fca133c4bcf128a8130f246f40Test
http://hdl.handle.net/11392/1994412Test

المؤلفون: R. de Vries, M. Vigo, Enrico Bertini, Giulia Colia, M. Jeukens, A. Mayhew, Kate Bushby, J. Fagoaga Mata, Lavinia Fanelli, Flaviana Bianco, Concetta Palermo, Marika Pane, Eugenio Mercuri, Mariacristina Scoto, M. Ash, Rudolf Korinthenberg, T. Voit, Laurent Servais, M. de Viesser, M. Eagle, M. van den Hauwe, Nathalie Goemans, K. Schaefer, Alessandra D'Amico, R. De Sanctis, Marion Main, Francesco Muntoni, A. Totoescu, A. Febrer, Elena S. Mazzone

المساهمون: Rehabilitation medicine

المصدر: Neuromuscular disorders, 24(4), 347-352. Elsevier Limited

مصطلحات موضوعية: Adult, medicine.medical_specialty, Scale (ratio), Adolescent, Motor Activity, Measure (mathematics), Motor function, Sensitivity and Specificity, Correlation, Muscular Atrophy, Spinal, Disability Evaluation, Young Adult, Medicine, Humans, Longitudinal Studies, Prospective Studies, Prospective cohort study, Child, Genetics (clinical), business.industry, Reproducibility of Results, Spinal muscular atrophy, medicine.disease, SMA, Europe, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Upper limb activities, Physical therapy, Neurology (clinical), business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d95506d1fefb8c6b6a0a83364012810Test
https://pure.amc.nl/en/publications/hammersmith-functional-motor-scale-and-motor-function-measure20-in-non-ambulant-sma-patientsTest(17d8de57-b28c-4c10-9795-e545edae92e1).html

المؤلفون: A. Gangfuss, M. Villeret, E. Gargaun, Yann Péréon, Jean-Marie Cuisset, Laurent Servais, Anne Marquet, A. Phelep, Vincent Laugel, A. Daron, Nathalie Goemans, Carole Vuillerot, A. Chabanon, S. Fontaine, Teresa Gidaro, L. De Waele, M. Annoussamy, Claude Cances, Ulrike Schara

المصدر: Neuromuscular Disorders. 26:S103

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Medizin, Spinal muscular atrophy, Baseline data, 030105 genetics & heredity, SMA, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2b66a7643ba85965ef3e1719760429Test
https://doi.org/10.1016/j.nmd.2016.06.066Test