PubRank

Baziel G M van Engelen

Author PubWeight™ 85.41‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat 2009 2.84
2 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012 2.82
3 The clinical spectrum of neuralgic amyotrophy in 246 cases. Brain 2005 2.51
4 Permanent loss of cervical spinal cord function associated with the posterior approach. Anesth Analg 2006 2.22
5 Serum creatine kinase as predictor of clinical course in rhabdomyolysis: a 5-year intensive care survey. Intensive Care Med 2003 1.76
6 Rituximab treatment in patients with refractory inflammatory myopathies. Rheumatology (Oxford) 2011 1.63
7 Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity. Ultrasound Med Biol 2008 1.59
8 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2010 1.40
9 Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010 1.38
10 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 2008 1.34
11 Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem 2006 1.29
12 Clinical applications of high-density surface EMG: a systematic review. J Electromyogr Kinesiol 2006 1.29
13 Treatment for idiopathic and hereditary neuralgic amyotrophy (brachial neuritis). Cochrane Database Syst Rev 2009 1.28
14 The development of a model of fatigue in neuromuscular disorders: a longitudinal study. J Psychosom Res 2007 1.20
15 Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet 2013 1.19
16 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
17 A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum Mol Genet 2011 1.18
18 Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. Eur J Hum Genet 2012 1.17
19 In vivo quantitative near-infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise. Clin Physiol Funct Imaging 2002 1.17
20 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
21 Neuralgic amyotrophy and hepatitis E virus infection. Neurology 2014 1.15
22 Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics 2012 1.06
23 A weak balance: the contribution of muscle weakness to postural instability and falls. Nat Clin Pract Neurol 2008 1.06
24 TDP-43 accumulation is common in myopathies with rimmed vacuoles. Acta Neuropathol 2008 1.04
25 Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients. J Neurol 2005 1.04
26 Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2. Neuromuscul Disord 2008 1.03
27 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
28 Poor sleep quality and fatigue but no excessive daytime sleepiness in myotonic dystrophy type 2. J Neurol Neurosurg Psychiatry 2010 1.03
29 Autoantibodies directed to novel components of the PM/Scl complex, the human exosome. Arthritis Res 2001 1.02
30 Fasciculation potentials in high-density surface EMG. J Clin Neurophysiol 2007 1.01
31 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
32 Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo. Ann Neurol 2002 0.99
33 Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev 2013 0.99
34 Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency. Ann Neurol 2004 0.99
35 Concomitant dermatomyositis and myasthenia gravis presenting with respiratory insufficiency. Muscle Nerve 2002 0.95
36 Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat 2003 0.95
37 Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken. Acta Neuropathol 2015 0.94
38 Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue. Neurol Sci 2008 0.93
39 The neglected brain in myotonic dystrophy types 1 and 2. Neurology 2010 0.91
40 Treatment of the inflammatory myopathies: update and practical recommendations. Expert Opin Pharmacother 2009 0.90
41 Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clin Chem 2006 0.90
42 High disease impact of myotonic dystrophy type 2 on physical and mental functioning. J Neurol 2011 0.90
43 A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging. Aging (Albany NY) 2013 0.89
44 BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord 2006 0.89
45 Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function. Hum Mol Genet 2010 0.87
46 Postural instability in Charcot-Marie-Tooth type 1A patients is strongly associated with reduced somatosensation. Gait Posture 2010 0.87
47 Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. Ann Neurol 2008 0.86
48 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
49 Comparison of CMT1A and CMT2: similarities and differences. J Neurol 2006 0.86
50 Quantitative muscle ultrasound versus quantitative magnetic resonance imaging in facioscapulohumeral dystrophy. Muscle Nerve 2014 0.85
51 Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. Neuromuscul Disord 2011 0.85
52 Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathology. Arthritis Res Ther 2014 0.84
53 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
54 Early diagnosis of ALS: the search for signs of denervation in clinically normal muscles. J Neurol Sci 2007 0.84
55 Research priorities of patients with neuromuscular disease. Disabil Rehabil 2012 0.83
56 A case of neuromuscular mimicry. Neuromuscul Disord 2006 0.83
57 Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. J Neurol 2011 0.83
58 Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Eur Neurol 2006 0.82
59 Polymyositis: an overdiagnosed entity. Neurology 2004 0.82
60 Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy. Neurology 2013 0.81
61 Muscle slowness in a family with nemaline myopathy. Neuromuscul Disord 2006 0.81
62 Implementation of multidisciplinary advice to allied health care professionals regarding the management of their patients with neuromuscular diseases. Disabil Rehabil 2010 0.81
63 Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle. J Neurol 2007 0.81
64 Polymyositis, invasion of non-necrotic muscle fibres, and the art of repetition. BMJ 2004 0.80
65 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
66 Referral of patients with neuromuscular disease to occupational therapy, physical therapy and speech therapy: usual practice versus multidisciplinary advice. Disabil Rehabil 2007 0.80
67 Myositis specific autoantibodies: changing insights in pathophysiology and clinical associations. Curr Opin Rheumatol 2004 0.79
68 Diagnosis and differential diagnosis of muscle cramps: a clinical approach. J Clin Neuromuscul Dis 2002 0.79
69 Living with myotonic dystrophy; what can be learned from couples? A qualitative study. BMC Neurol 2011 0.79
70 Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy. BMC Neurol 2013 0.78
71 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
72 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
73 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
74 Diagnostic yield of muscle fibre conduction velocity in myopathies. J Neurol Sci 2011 0.77
75 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
76 How persons with a neuromuscular disease perceive employment participation: a qualitative study. J Occup Rehabil 2014 0.76
77 Needle electromyographic findings in 98 patients with myositis. Eur Neurol 2006 0.76
78 Screening for antecedent Campylobacter jejuni infections and anti-ganglioside antibodies in idiopathic neuralgic amyotrophy. J Peripher Nerv Syst 2011 0.76
79 The phenotype of the Gly94fsX222 PMP22 insertion. J Peripher Nerv Syst 2011 0.76
80 Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol. BMC Neurol 2013 0.76
81 LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy. Muscle Nerve 2014 0.75
82 Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study. Mov Disord 2006 0.75
83 184th ENMC International Workshop: pain and fatigue in neuromuscular disorders: 20-22 May 2011, Naarden, The Netherlands. Neuromuscul Disord 2013 0.75
84 The individualized neuromuscular quality of life questionnaire: cultural translation and psychometric validation for the Dutch population. Muscle Nerve 2015 0.75
85 Effects of Mindfulness-Based Stress Reduction on the Mental Health of Clinical Clerkship Students: A Cluster-Randomized Controlled Trial. Acad Med 2017 0.75
86 [Overactive muscles: it can be more serious than common myalgia or cramp]. Ned Tijdschr Geneeskd 2016 0.75
87 Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption. Ann Neurol 2002 0.75
88 Ambulatory disabilities and the use of walking aids in patients with hereditary motor and sensory neuropathy type I (HMSN I). Disabil Rehabil Assist Technol 2007 0.75
89 Persistent increased risk for thymoma in myasthenia gravis associated with myositis. Muscle Nerve 2006 0.75
90 Development of a tool to guide referral of patients with neuromuscular disorders to allied health services. Part one. Disabil Rehabil 2008 0.75
91 [Light traumatic brain concussion in an older patient with oral antifibrinolytic agents]. Ned Tijdschr Geneeskd 2009 0.75
92 Computer-aided visualization of muscle weakness distribution. J Neurol 2008 0.75
93 Sensorimotor axonal polyneuropathy without hepatic failure in erythropoietic protoporphyria. J Clin Neuromuscul Dis 2009 0.75
94 Neurological picture. The astrologist's posture: a useful clinical observation. J Neurol Neurosurg Psychiatry 2010 0.75
95 Development of a tool to guide referral of patients with neuromuscular disorders to allied health services. Part two. Disabil Rehabil 2008 0.75
96 Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases. Disabil Rehabil 2013 0.75
97 Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy. Curr Opin Neurol 2016 0.75