Published in J Neurol on April 03, 2011
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140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord (2006) 1.30
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171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2010) 1.40
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet (2010) 1.38
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Gray matter volume reduction in the chronic fatigue syndrome. Neuroimage (2005) 1.30
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet (2013) 1.19
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis (2012) 1.19
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum Mol Genet (2011) 1.18
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet (2012) 1.17
In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise. Clin Physiol Funct Imaging (2002) 1.17
Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial. BMC Neurol (2010) 1.15
Neuralgic amyotrophy and hepatitis E virus infection. Neurology (2014) 1.15
Neural correlates of the chronic fatigue syndrome--an fMRI study. Brain (2004) 1.10
Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics (2012) 1.06
A weak balance: the contribution of muscle weakness to postural instability and falls. Nat Clin Pract Neurol (2008) 1.06
TDP-43 accumulation is common in myopathies with rimmed vacuoles. Acta Neuropathol (2008) 1.04
Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients. J Neurol (2005) 1.04
Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2. Neuromuscul Disord (2008) 1.03
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis (2012) 1.03
Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2. J Neurol Neurosurg Psychiatry (2010) 1.03
Autoantibodies directed to novel components of the PM/Scl complex, the human exosome. Arthritis Res (2001) 1.02
No effect of one-year treatment with indomethacin on Alzheimer's disease progression: a randomized controlled trial. PLoS One (2008) 1.01
Fasciculation potentials in high-density surface EMG. J Clin Neurophysiol (2007) 1.01
Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD. Am J Pathol (2012) 1.00
Hourly variability of cerebrospinal fluid biomarkers in Alzheimer's disease subjects and healthy older volunteers. Neurobiol Aging (2011) 0.99
Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev (2013) 0.99
Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo. Ann Neurol (2002) 0.99
Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency. Ann Neurol (2004) 0.99
Improvement of health-related quality of life in relapsing remitting multiple sclerosis patients after 2 years of treatment with intramuscular interferon-beta-1a. J Neurol (2009) 0.98
Differences in the experience of fatigue in patients and healthy controls: patients' descriptions. Health Qual Life Outcomes (2007) 0.96
Concomitant dermatomyositis and myasthenia gravis presenting with respiratory insufficiency. Muscle Nerve (2002) 0.95
Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome. Mitochondrion (2011) 0.95
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat (2003) 0.95
Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken. Acta Neuropathol (2015) 0.94
Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue. Neurol Sci (2008) 0.93
The neglected brain in myotonic dystrophy types 1 and 2. Neurology (2010) 0.91
Treatment of the inflammatory myopathies: update and practical recommendations. Expert Opin Pharmacother (2009) 0.90
Expectancy effects on omission evoked potentials in musicians and non-musicians. Psychophysiology (2005) 0.90
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clin Chem (2006) 0.90
A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging. Aging (Albany NY) (2013) 0.89
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord (2006) 0.89
Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function. Hum Mol Genet (2010) 0.87
Postural instability in Charcot-Marie-Tooth type 1A patients is strongly associated with reduced somatosensation. Gait Posture (2010) 0.87
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. Ann Neurol (2008) 0.86
Comparison of CMT1A and CMT2: similarities and differences. J Neurol (2006) 0.86
Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial. BMC Neurol (2011) 0.86
Helping hands: a cluster randomised trial to evaluate the effectiveness of two different strategies for promoting hand hygiene in hospital nurses. Implement Sci (2011) 0.86
Blockade of the renin-angiotensin system increases graft survival in patients with chronic allograft nephropathy. Nephrol Dial Transplant (2004) 0.85
Quantitative muscle ultrasound versus quantitative magnetic resonance imaging in facioscapulohumeral dystrophy. Muscle Nerve (2014) 0.85
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. Neuromuscul Disord (2011) 0.85
Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathology. Arthritis Res Ther (2014) 0.84
Muscle characteristics and altered myofascial force transmission in tenascin-X-deficient mice, a mouse model of Ehlers-Danlos syndrome. J Appl Physiol (1985) (2010) 0.84
Early diagnosis of ALS: the search for signs of denervation in clinically normal muscles. J Neurol Sci (2007) 0.84
A case of neuromuscular mimicry. Neuromuscul Disord (2006) 0.83
Research priorities of patients with neuromuscular disease. Disabil Rehabil (2012) 0.83
The Lively Legs self-management programme increased physical activity and reduced wound days in leg ulcer patients: Results from a randomized controlled trial. Int J Nurs Stud (2011) 0.83
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. J Neurol (2011) 0.83
Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Eur Neurol (2006) 0.82
Polymyositis: an overdiagnosed entity. Neurology (2004) 0.82
Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy. Neurology (2013) 0.81
Muscle slowness in a family with nemaline myopathy. Neuromuscul Disord (2006) 0.81
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. J Neurol (2007) 0.81
Implementation of multidisciplinary advice to allied health care professionals regarding the management of their patients with neuromuscular diseases. Disabil Rehabil (2010) 0.81
Polymyositis, invasion of non-necrotic muscle fibres, and the art of repetition. BMJ (2004) 0.80
Effects of a postqualification course in palliative care. J Adv Nurs (2005) 0.80
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. Eur J Hum Genet (2011) 0.80
Referral of patients with neuromuscular disease to occupational therapy, physical therapy and speech therapy: usual practice versus multidisciplinary advice. Disabil Rehabil (2007) 0.80
Living with myotonic dystrophy; what can be learned from couples? A qualitative study. BMC Neurol (2011) 0.79
Cue-responding behaviours of oncology nurses in video-simulated interviews. J Adv Nurs (2007) 0.79
Myositis specific autoantibodies: changing insights in pathophysiology and clinical associations. Curr Opin Rheumatol (2004) 0.79
Diagnosis and differential diagnosis of muscle cramps: a clinical approach. J Clin Neuromuscul Dis (2002) 0.79
Adverse events of interferon beta-1a: a prospective multi-centre international ICH-GCP-based CRO-supported external validation study in daily practice. PLoS One (2011) 0.79
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. BMC Neurol (2013) 0.78
Employment status of patients with neuromuscular diseases in relation to personal factors, fatigue and health status: a secondary analysis. J Rehabil Med (2010) 0.78
Diagnostic yield of muscle fibre conduction velocity in myopathies. J Neurol Sci (2011) 0.77
Upregulation of Ca2+ removal in human skeletal muscle: a possible role for Ca2+-dependent priming of mitochondrial ATP synthesis. Am J Physiol Cell Physiol (2003) 0.77
160th ENMC International Workshop (First ENMC practical care workshop) Exercise training in patients with muscle diseases: 20-22 June 2008, Naarden, The Netherlands. Neuromuscul Disord (2012) 0.77
Estimating life expectancy and related probabilities in screen-detected breast cancer patients with restricted follow-up information. Stat Med (2004) 0.77
Fast responses to stepping on an unexpected surface height depend on intact large-diameter nerve fibers: a study on Charcot-Marie-Tooth type 1A disease. J Neurophysiol (2009) 0.77
Needle electromyographic findings in 98 patients with myositis. Eur Neurol (2006) 0.76
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol. BMC Neurol (2013) 0.76
How persons with a neuromuscular disease perceive employment participation: a qualitative study. J Occup Rehabil (2014) 0.76