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Neurology, ISSN 0028-3878, 06/2019, Volume 92, Issue 24, pp. e2803 - e2814
OBJECTIVETo determine the value of quantitative MRI in providing imaging biomarkers for disease in 20 different upper and lower leg muscles of patients with... 
FOLLOW-UP | REPEAT | CCG | CLINICAL NEUROLOGY | EXPANSION | 185 | 120
Journal Article
Neurology, ISSN 0028-3878, 09/2019, Volume 93, Issue 10, pp. e995 - e1009
OBJECTIVETo evaluate the role of genetic variation at the DMPK locus on symptomatic diversity in 250 adult, ambulant patients with myotonic dystrophy type 1... 
185
Journal Article
Neurology, ISSN 0028-3878, 02/2019, Volume 92, Issue 9, pp. e957 - e963
OBJECTIVEThis 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, 04/2019, Volume 28, Issue 7, pp. 1064 - 1075
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is characterized by sporadic de-repression of the transcription factor DUX4 in skeletal muscle. DUX4... 
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
Health Psychology, ISSN 0278-6133, 06/2018, Volume 37, Issue 6, pp. 530 - 543
Severe fatigue is highly prevalent in various chronic diseases. Disease-specific fatigue models have been developed, but it is possible that fatigue-related... 
Fatigue | Health-related factors | Chronic disease | Psychosocial factors | Transdiagnostic approach | Cross-Sectional Studies | Humans | Middle Aged | Fatigue - psychology | Female | Male | Chronic Disease - psychology
Journal Article
Journal of Applied Physiology, ISSN 8750-7587, 06/2018, Volume 124, Issue 6, pp. 1597 - 1604
Journal Article
Practical Neurology, ISSN 1474-7758, 06/2016, Volume 16, Issue 3, pp. 201 - 207
Journal Article
Patient, ISSN 1178-1653, 08/2019, Volume 12, Issue 4, pp. 365 - 373
BackgroundAdult-onset myotonic dystrophy type 1 (DM1) is a chronic, multisystem disorder that leads to disability and premature death.ObjectivesThe objective... 
MUSCULAR-DYSTROPHY | HEALTH POLICY & SERVICES | OUTCOME MEASURES | HEALTH CARE SCIENCES & SERVICES | Systematic Review
Journal Article
Journal of Applied Physiology, ISSN 8750-7587, 2001, Volume 90, Issue 2, pp. 511 - 519
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... 
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... 
Journal Article
Amino Acids, ISSN 0939-4451, 2016, Volume 48, Issue 8, pp. 1857 - 1866
Creatine (Cr) supplementation to enhance muscle performance shows variable responses among individuals and different muscles. Direct monitoring of the supplied... 
Carbon Isotopes - pharmacokinetics | Carbon Isotopes - pharmacology | Magnetic Resonance Spectroscopy - methods | Humans | Muscle, Skeletal - diagnostic imaging | Aged, 80 and over | Adult | Female | Male | Muscle, Skeletal - metabolism | Phosphocreatine - metabolism
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 12, pp. 1370 - 1374
Journal Article
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