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1
المؤلفون: Nicol C. Voermans, Silvère M. van der Maarel, George W. Padberg, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rianne J.M. Goselink, Ana Blatnik, Janez Zidar, Stephen J. Tapscott, Don Henderson, Rabi Tawil, Judit Balog, Baziel G.M. van Engelen
المصدر: Journal of Medical Genetics, 59, 2, pp. 180-188
Journal of Medical Genetics, 59(2), 180-188. BMJ PUBLISHING GROUP
J Med Genet
Journal of Medical Genetics, 59, 180-188مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, diagnosis, gene rearrangement, Locus (genetics), neuromuscular diseases, Biology, Article, Chromosome Breakpoints, DUX4, Genetic linkage, Genetics, medicine, Humans, Muscular dystrophy, Cells, Cultured, Genetic Association Studies, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Homeodomain Proteins, Chromosomes, Human, Pair 10, genetic research, Chromosome, Gene rearrangement, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, nervous system diseases, Pedigree, Chromosome 4, gene expression, Female, Chromosomes, Human, Pair 4, Transcriptome
وصف الملف: application/pdf
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2
المؤلفون: Karlien Mul, George W. Padberg, C. H. G. Beurskens, S. Knuijt, B.G.M. van Engelen, Thomas J.J. Maal, T. G. J. Loonen, Jeffrey Statland, Nicol C. Voermans, Corinne G.C. Horlings, Sanne C. C. Vincenten
المساهمون: Oral and Maxillofacial Surgery
المصدر: Journal of neurology, 268(4), 1342-1350. D. Steinkopff-Verlag
Journal of Neurology, 268, 1342-1350
Journal of Neurology, 268, 4, pp. 1342-1350
Journal of Neurologyمصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Neurology, Fleiss' kappa, Facial weakness, Severity of Illness Index, Outcome measures, 03 medical and health sciences, 0302 clinical medicine, Disease severity, Facioscapulohumeral muscular dystrophy, medicine, Humans, In patient, Longitudinal Studies, Neuroradiology, Original Communication, business.industry, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], 030104 developmental biology, Face, Physical therapy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3d6b2d0411a26843eb88ea2d949a1b
https://pure.amc.nl/en/publications/characterizing-the-face-in-facioscapulohumeral-muscular-dystrophy(05f3aef3-918b-416e-9560-19e5a00bebcc).html -
3Academic Journal
المؤلفون: Barbara H Janssen, Nicoline B M Voet, Christine I Nabuurs, Hermien E Kan, Jacky W J de Rooy, Alexander C Geurts, George W Padberg, Baziel G M van Engelen, Arend Heerschap
المصدر: PLoS ONE, Vol 9, Iss 1, p e85416 (2014)
وصف الملف: electronic resource
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4Academic Journal
المؤلفون: Yvonne D Krom, Peter E Thijssen, Janet M Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S Zammit, Tonnie Rijkers, Baziel G M van Engelen, George W Padberg, Rune R Frants, Rabi Tawil, Stephen J Tapscott, Silvère M van der Maarel
المصدر: PLoS Genetics, Vol 9, Iss 4, p e1003415 (2013)
وصف الملف: electronic resource
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5
المؤلفون: Mike Snape, Aad Tibben, Baziel G.M. van Engelen, Mencia de Lemus, Hanns Lochmüller, Alexandra Breukel, Holly L. Peay, Nathalie Bere, Ellen Sterrenburg, George W. Padberg, Raffaella Willmann, Erik Landfeldt, Ingeborg Meijer, Lucia Monaco, Anna Ambrosini, Guus Schrijvers, Elena S. Mazzone, Mats G. Hansson, Anne Lennox
المصدر: Journal of Neuromuscular Diseases, 6, 1, pp. 161-172
Journal of Neuromuscular Diseases, 6(1), 161-172
Journal of Neuromuscular Diseases, 6, 161-172مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Psychological intervention, Context (language use), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Biobank, Clinical trial, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Quality of life (healthcare), Neurology, Family medicine, Health care, medicine, Observational study, Neurology (clinical), Patient participation, Psychology, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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6
المؤلفون: George W. Padberg, Corrie E. Erasmus, Rianne J.M. Goselink, Jeffrey Statland, Nicol C. Voermans, Caroline R. van Kernebeek, Tim H. A. Schreuder, Baziel G.M. van Engelen, Silvère M. van der Maarel, Karlien Mul, Richard J.L.F. Lemmers
المصدر: Neurology, 92, 4, pp. e378-e385
Neurology, 92(4), E378-E385. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 92, e378-e385مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Hearing loss, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Blindness, Severity of Illness Index, Article, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Internal medicine, Severity of illness, Humans, Medicine, Facioscapulohumeral muscular dystrophy, Prospective Studies, 030212 general & internal medicine, Age of Onset, Muscular dystrophy, Hearing Loss, Prospective cohort study, Aged, Homeodomain Proteins, DNA Repeat Expansion, Muscle Weakness, business.industry, Muscle weakness, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Cross-Sectional Studies, Female, Neurology (clinical), medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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7
المؤلفون: Patrick J. van der Vliet, Baziel G.M. van Engelen, George W. Padberg, Nicol C. Voermans, Silvère M. van der Maarel, Corinne G.C. Horlings, Marianne A. Jonker, Richard J.L.F. Lemmers, Karlien Mul
المصدر: Clinical Genetics, 94, 6, pp. 521-527
Clinical Genetics, 94, 521-527
Clinical Genetics, 94(6), 521-527مصطلحات موضوعية: Male, 0301 basic medicine, Penetrance, Severity of Illness Index, Gastroenterology, 0302 clinical medicine, Genotype, Facioscapulohumeral muscular dystrophy, Genetics (clinical), Aged, 80 and over, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Explained variation, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Facial muscles, Phenotype, medicine.anatomical_structure, facioscapulohumeral muscular dystrophy (FSHD), Female, Body region, Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Locus (genetics), Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, disease modifiers, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, Aged, epigenetics, business.industry, medicine.disease, 030104 developmental biology, Haplotypes, business, Biomarkers, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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8
المؤلفون: Marianne de Visser, Carlos Vrins, George W. Padberg, Nicol C. Voermans, Leonard H. van den Berg
المصدر: Les Cahiers de Myologie. :35-38
مصطلحات موضوعية: business.industry, Medicine, business
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9A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
المؤلفون: Richard J.L.F. Lemmers, Oebele F. Brouwer, Nicol C. Voermans, Baziel G.M. van Engelen, George W. Padberg, Corrie E. Erasmus, Karlien Mul, Caroline R. van Kernebeek, Rianne J.M. Goselink, Silvère M. van der Maarel
المصدر: European Journal of Paediatric Neurology, 22(5), 782-785. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 22, 5, pp. 782-785
European Journal of Paediatric Neurology, 22, 782-785مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Infantile FSHD, Adolescent, Hearing loss, Natural history, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Facioscapulohumeral dystrophy, DIAGNOSIS, 03 medical and health sciences, 0302 clinical medicine, Wheelchair, Intellectual disability, Medicine, Humans, Age of Onset, Variable disease severity, medicine.diagnostic_test, business.industry, Dystrophy, Early-onset FSHD, General Medicine, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, MUSCULAR-DYSTROPHY, Muscular Dystrophy, Facioscapulohumeral, Clinical trial, 030104 developmental biology, Phenotype, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Neuromuscular disorders, Follow-Up Studies
وصف الملف: application/pdf
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10
المؤلفون: Silvère M. van der Maarel, George W. Padberg, Thomas Theelen, Baziel G.M. van Engelen, Rianne J.M. Goselink, Vivian Schreur, Corrie E. Erasmus, Caroline R. van Kernebeek
المصدر: Brain Communications
Brain Communications, 1
Brain Communications, 1, 1مصطلحات موضوعية: muscular dystrophy, medicine.medical_specialty, Arterial tortuosity syndrome, Visual acuity, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Neurological examination, neuromuscular diseases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Ophthalmology, medicine, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, General Engineering, Fundus photography, Dystrophy, retinal telangiectasis, Retinal, facioscapulohumeral, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.anatomical_structure, chemistry, 030221 ophthalmology & optometry, Original Article, Retinal Telangiectasis, sense organs, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Frédérique Magdinier, June Kinoshita, George W. Padberg
المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)
المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2019, 29 (10), pp.811-817. ⟨10.1016/j.nmd.2019.08.015⟩
Neuromuscular Disorders, 29, 811-817
Neuromuscular Disorders, 29, 10, pp. 811-817مصطلحات موضوعية: International research, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Research, [SDV]Life Sciences [q-bio], Library science, Dystrophy, Congresses as Topic, Biology, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, Research Personnel, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Humans, France, Neurology (clinical), 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030304 developmental biology
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12
المؤلفون: Ingeborg Meijer, Hanns Lochmüller, Ros Quinlivan, George W. Padberg, Aad Tibben, Alexandre Méjat, Anna Ambrosini, Alexandra Breukel, Guus Schrijvers, Valeria A. Sansone, Raffaella Willmann, Michal Rataj, Maarten de Wit, Ellen Sterrenburg
المساهمون: Goemans, Nathalie, Ethics, Law & Medical humanities, Schara, Ulrike (Beitragende*r)
المصدر: Ambrosini, A, Quinlivan, R, Sansone, V A, Meijer, I, Schrijvers, G, Tibben, A, Padberg, G, De Wit, M, Sterrenburg, E, Mejat, A, Breukel, A, Rataj, M, Lochmüller, H, Willmann, R & 235th ENMC workshop study group 2019, ' "be an ambassador for change that you would like to see" : A call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 126 . https://doi.org/10.1186/s13023-019-1103-8
Orphanet Journal of Rare Diseases, 14, e126
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Orphanet Journal of Rare Diseases, 14(1):126. BioMed Centralمصطلحات موضوعية: 0301 basic medicine, PATIENT PARTICIPATION, INVOLVEMENT, Biomedical Research, Decision Making, Medizin, Patient engagement, lcsh:Medicine, 030105 genetics & heredity, Research & Experimental Medicine, Marketing authorization, DIAGNOSIS, DUCHENNE MUSCULAR-DYSTROPHY, 03 medical and health sciences, 0302 clinical medicine, Cultural diversity, Health care, Co-creation, MANAGEMENT, Humans, Pharmacology (medical), Patient involvement, Genetics (clinical), Genetics & Heredity, Medical education, Science & Technology, business.industry, RESEARCH-AND-DEVELOPMENT, Research, lcsh:R, Healthcare, General Medicine, Biobank, Call to action, MODEL, Neuromuscular diseases, Medicine, Research & Experimental, General partnership, Quality of Life, Patient-reported outcome, Psychology, business, SHARED DECISION-MAKING, RARE DISEASES, FOLLOW-UP, Life Sciences & Biomedicine, 030217 neurology & neurosurgery
وصف الملف: Electronic
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المؤلفون: Baziel G.M. van Engelen, Silvère M. van der Maarel, George W. Padberg, Richard J.L.F. Lemmers, Karlien Mul, Sanne C. C. Vincenten, Nicol C. Voermans, Patrick J. van der Vliet, Corinne G.C. Horlings
المصدر: Neurology, 89, 2057-2065
Neurology, 89(20), 2057-2065
Neurology, 89, 20, pp. 2057-2065مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Weakness, Adolescent, Severity of Illness Index, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular dystrophy, Muscle, Skeletal, Aged, Aged, 80 and over, Clinical Trials as Topic, Leg, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Muscular Dystrophy, Facioscapulohumeral, 030104 developmental biology, Cardiology, Physical therapy, Biomarker (medicine), Female, Neurology (clinical), medicine.symptom, Adductor muscles, business, 030217 neurology & neurosurgery
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14Academic Journal
المؤلفون: Marcel R. Nelen, Wilma C. G. Van Staveren, Els A. J. Peeters, Mohammed Ben Hassel, Robert J. Gorlin, Henning Hamm, Christian F. Lindboe, Jean-pierre Fryns, Rolf H. Sijmons, D. Geoffrey Woods, Edwin C. M. Mariman, George W. Padberg, Hannie Kremer
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.582.655; http://hmg.oxfordjournals.org/content/6/8/1383.full.pdf
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15Academic Journal
المؤلفون: Richard J. L. F. Lemmers, Silvère M. Van Der Maarel, Judith C. T. Van Deutekom, Giancarlo Deidda, Hans G. Dauwerse, Jane Hewitt, Marten Hofker, Egbert Bakker, George W. Padberg, Rune R. Frants
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.509.7253; http://hmg.oxfordjournals.org/content/7/8/1207.full.pdf
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16Academic Journal
المؤلفون: Hannie Kremer, Lambertus P. Kuyt, Bellinda Van Den Helm, Margo Van Reen, Jack A. M. Leunissen, Ben C. J. Hamel, Cees Jansen, Edwin C. M. Mariman, R. Frants, George W. Padberg
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.586.7680; http://hmg.oxfordjournals.org/content/5/9/1367.full.pdf
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المؤلفون: Alexander M. Huber, Manou Sommen, Anne Schepers, Erik Fransen, Isabelle Schrauwen, Umut Altunoglu, Els De Leenheer, Abdul Nasir, Ronald J.E. Pennings, Mieke Wesdorp, Diego Zanetti, George W. Padberg, Hannie Kremer, Arjan P.M. de Brouwer, Paul Van de Heyning, Matthew J. Huentelman, Berit M. Verbist, Matthias Beyens, Guy Van Camp, Cor W. R. J. Cremers, Hülya Kayserili, Christian Gilissen, Hans van Bokhoven, Hanne Valgaeren, Laura Tomás-Roca, Malika Rahmoun, Geert Vandeweyer, Ingeborg Dhooghe, Ellen van Beusekom, Erwin Offeciers, Alexander Hoischen
المساهمون: University of Zurich, Van Camp, Guy
المصدر: Genetics in medicine
Genetics in Medicine, 21, 5, pp. 1199-1208
Genetics in Medicine, 21(5), 1199-1208. NATURE PUBLISHING GROUP
Genetics in Medicine, 21, 1199-1208مصطلحات موضوعية: Male, 0301 basic medicine, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], 10045 Clinic for Otorhinolaryngology, 030105 genetics & heredity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], craniofacial bone disorder, Genetics (clinical), Exome sequencing, RGD motif, Genetics, Sanger sequencing, Extracellular Matrix Proteins, Massive parallel sequencing, Genetic Diseases, X-Linked, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Pedigree, symbols, Female, Adult, 2716 Genetics (clinical), Heterozygote, Facial Paralysis, 610 Medicine & health, Biology, Bone and Bones, Frameshift mutation, 03 medical and health sciences, symbols.namesake, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, hereditary congenital facial paresis, medicine, Humans, Family, Glycoproteins, hearing loss, MEPE, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic Variation, Phosphoproteins, medicine.disease, otosclerosis, 030104 developmental biology, Otosclerosis, Human medicine
وصف الملف: pdf; s41436-018-0300-5.pdf - application/pdf
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المؤلفون: Alexandra Breukel, George W. Padberg, Ellen Sterrenburg, Ingeborg Meijer, Raffaella Willmann
المصدر: Neuromuscular Disorders, 29(4), 330-340
مصطلحات موضوعية: 0301 basic medicine, Medical education, Bibliometric analysis, business.industry, education, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Citation, business, 030217 neurology & neurosurgery, Genetics (clinical), Citation score
وصف الملف: application/pdf
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المؤلفون: C. van Kernebeek, Corrie E. Erasmus, Thomas Theelen, George W. Padberg, B.G.M. van Engelen, V. Scheur, S.M. van der Maarel, R. Goselink
المصدر: Neuromuscular Disorders. 29:S52-S53
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Dystrophy, Neurology (clinical), business, Genetics (clinical)
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20
المؤلفون: Edith H. C. Cup, Nicol C. Voermans, Wouter K. G. Leclercq, George W. Padberg, Esther E.D.H. Abel, Ton Satink, Joost Raaphorst, Anke Lanser
المساهمون: Neurology
المصدر: Neuromuscular Disorders, 28, 938-946
Neuromuscular disorders, 28(11), 938-946. Elsevier Limited
Neuromuscular Disorders, 28, 11, pp. 938-946مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Bariatric Surgery, Overweight, Myotonic dystrophy, Disease course, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Humans, Myotonic Dystrophy, In patient, 030212 general & internal medicine, Genetics (clinical), Qualitative Research, business.industry, Dystrophy, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Obesity, Muscular Dystrophy, Facioscapulohumeral, Surgery, Obesity, Morbid, Treatment Outcome, Neurology, Lifestyle change, Pediatrics, Perinatology and Child Health, Quality of Life, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Qualitative research