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Neurology, ISSN 0028-3878, 2019, Volume 92, Issue 9, pp. e957 - e963
OBJECTIVE: This study explores the use of quantitative data on strength and fatigability of orofacial muscles in patients with facioscapulohumeral muscular... 
FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY | DYSPHAGIA | ENDURANCE | ORAL PERFORMANCE INSTRUMENT | TONGUE STRENGTH | RELIABILITY | HAND STRENGTH | CLINICAL NEUROLOGY | SWAL-QOL | AGE
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2019, Volume 28, Issue 7, pp. 1064 - 1075
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by sporadic de-repression of the transcription factor DUX4 in skeletal muscle. DUX4 activates a... 
SMCHD1 | ACTIVATION | TRANSCRIPTOME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FSHD | NEURONS | REGULATORS | CANDIDATE GENE | DIFFERENTIATION | MODEL | DUX4 EXPRESSION
Journal Article
Respiratory Medicine, ISSN 0954-6111, 2017, Volume 126, pp. 130 - 131
Journal Article
Practical Neurology, ISSN 1474-7758, 06/2016, Volume 16, Issue 3, pp. 201 - 207
Journal Article
Journal of Applied Physiology, ISSN 8750-7587, 2001, Volume 90, Issue 2, pp. 511 - 519
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1370 - 1374
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2019
Atrophy and fatty infiltration are important causes of muscle weakness in inclusion body myositis (IBM). Muscle weakness can also be caused by reduced specific... 
Journal Article
Neurology, ISSN 0028-3878, 08/2015, Volume 85, Issue 7, pp. 619 - 625
Objective: To assess whether shared medical appointments (SMAs) for neuromuscular patients represent a way of using clinicians' time efficiently without... 
ORGANIZATION | CLINICS | PRIMARY-CARE | TIME | RANDOMIZED CONTROLLED-TRIAL | LIFE
Journal Article
Neurology, ISSN 0028-3878, 2014, Volume 83, Issue 12, pp. 1056 - 1059
OBJECTIVE: To determine the incidence and prevalence of facioscapulohumeral muscular dystrophy (FSHD) in the Netherlands. METHODS: Using 3-source... 
MUSCULAR-DYSTROPHY | CLINICAL NEUROLOGY | Prevalence | Humans | Middle Aged | Netherlands - epidemiology | Adult | Female | Male | Registries | Aged | Muscular Dystrophy, Facioscapulohumeral - epidemiology | Incidence | 185
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3
Background In this large observational study population of 105 myotonic dystrophy type 1 (DM1) patients, we investigate whether bodyweight is a contributor of... 
MORTALITY | OBSTRUCTIVE PULMONARY-DISEASE | CTG REPEAT | STANDARDIZATION | FATIGUE | ADULTS | BODY-COMPOSITION | IMPAIRMENT
Journal Article
by Okkersen, Kees and Jimenez-Moreno, Cecilia and Wenninger, Stephan and Daidj, Ferroudja and Glennon, Jeffrey and Cumming, Sarah and Littleford, Roberta and Monckton, Darren and Monckton, Darren G and Lochmüller, Hanns and Catt, Sharon and Catt, Michael and Faber, Catharina and Faber, Catharina G and Hapca, Adrian and Donnan, Peter T and Donnan, Peter and Gorman, Gráinne and Bassez, Guillaume and Schoser, Benedikt and Knoop, Hans and Treweek, Shaun and van Engelen, Baziel and van Engelen, Baziel G M and Kierkegaard, Marie and Maas, Daphne and Nikolaus, Stephanie and Cornelissen, Yvonne and van Nimwegen, Marlies and Klerks, Ellen and Bouman, Sacha and Heskamp, Linda and Heerschap, Arend and Rahmadi, Ridho and Groot, Perry and Heskes, Tom and Kapusta, Katarzyna and Abghari, Shaghayegh and Aschrafi, Armaz and Poelmans, Geert and Raaphorst, Joost and Trenell, Michael and van Laar, Sandra and Wood, Libby and Cassidy, Sophie and Newman, Jane and Charman, Sarah and Steffaneti, Renae and Taylor, Louise and Brownrigg, Allan and Day, Sharon and Atalaya, Antonio and Hogarth, Fiona and Schüller, Angela and Stahl, Kristina and Künzel, Heike and Wolf, Martin and Jelinek, Anna and Lignier, Baptiste and Couppey, Florence and Delmas, Stéphanie and Deux, Jean-François and Hankiewicz, Karolina and Dogan, Celine and Minier, Lisa and Chevalier, Pascale and Hamadouche, Amira and Adam, Berit and Hannah, Michael and McKenzie, Emma and Rauchhaus, Petra and Van Hees, Vincent and Schwalber, Ameli and Merkies, Ingemar and Dittrich, Juliane and OPTIMISTIC Consortium and OPTIMISTIC consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 671 - 680
Journal Article
PLoS One, ISSN 1932-6203, 2014, Volume 9, Issue 1, p. e85416
Facioscapulohumeral muscular dystrophy (FSHD) is an untreatable disease, characterized by asymmetric progressive weakness of skeletal muscle with fatty... 
SKELETAL-MUSCLE | SPECTROSCOPY | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | PATTERNS | DUCHENNE MUSCULAR-DYSTROPHY | PHOSPHOCREATINE | MYOTONIC-DYSTROPHY | PROGRESSION | EXERCISE | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Prognosis | Muscular Dystrophy, Facioscapulohumeral - diagnosis | Humans | Middle Aged | Male | Muscle, Skeletal - metabolism | Young Adult | Adenosine Triphosphate - metabolism | Aged, 80 and over | Adult | Female | Muscular Dystrophy, Facioscapulohumeral - metabolism | Precision Medicine | Adipose Tissue - pathology | Disease Progression | Magnetic Resonance Imaging | Phosphates - metabolism | Energy Metabolism | Leg - pathology | Muscle, Skeletal - physiopathology | Adolescent | Muscular Dystrophy, Facioscapulohumeral - pathology | Aged | Muscle, Skeletal - pathology | Edema - pathology | Muscles | Medicine, Experimental | Medical research | Diagnostic imaging | Metabolites | Medical imaging equipment | Coils | Nuclear magnetic resonance--NMR | Low fat | Muscular dystrophy | Defects | Muscular strength | Age | Edema | Legs | Phosphocreatine | Regression analysis | Patients | Skeletal muscle | Leg | Musculoskeletal system | Neurology | Magnetic resonance imaging | Coiling | Biomarkers | Infiltration | Diagnostic systems | Dystrophy | Rehabilitation | ATP | Nuclear magnetic resonance | NMR
Journal Article