Published in Ned Tijdschr Geneeskd on October 18, 2008
[Two patients with mitochondrial respiratory chain disease]. Ned Tijdschr Geneeskd (2008) 1.38
Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology (2010) 2.01
Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology (2007) 1.79
Mitochondrial disease criteria: diagnostic applications in children. Neurology (2006) 1.58
Anti-signal recognition particle autoantibodies: marker of a necrotising myopathy. Ann Rheum Dis (2006) 1.54
Ptosis as a feature of late-onset glycogenosis type II. Neurology (2006) 1.49
Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry (2005) 1.45
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry (2009) 1.29
Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies. J Neurol Neurosurg Psychiatry (2004) 1.21
Clinical neurophysiology of fatigue. Clin Neurophysiol (2007) 1.17
Protein S-100B, neuron-specific enolase (NSE), myelin basic protein (MBP) and glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and blood of neurological patients. Brain Res Bull (2003) 1.17
Clinical characteristics of patients with myositis and autoantibodies to different fragments of the Mi-2 beta antigen. Ann Rheum Dis (2006) 1.12
99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.12
Drug treatment for myotonia. Cochrane Database Syst Rev (2006) 1.11
Some practical aspects of providing a diagnostic service for respiratory chain defects. Ann Clin Biochem (2003) 1.09
Experienced and physiological fatigue in neuromuscular disorders. Clin Neurophysiol (2006) 1.08
Major depression in adolescent children consecutively diagnosed with mitochondrial disorder. J Affect Disord (2008) 1.07
Evaluation of prednisolone treatment in the acute phase of neuralgic amyotrophy: an observational study. J Neurol Neurosurg Psychiatry (2009) 1.06
Strong association between myotonic dystrophy type 2 and autoimmune diseases. J Neurol Neurosurg Psychiatry (2009) 1.04
Treatment of dermatomyositis and polymyositis with anti-tumor necrosis factor-alpha: long-term follow-up. Eur Neurol (2004) 1.03
Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. J Neurol (2007) 0.99
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. J Inherit Metab Dis (2003) 0.99
Relation between muscle fiber conduction velocity and fiber size in neuromuscular disorders. J Appl Physiol (1985) (2006) 0.98
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. J Inherit Metab Dis (2012) 0.97
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab (2006) 0.97
Successful treatment of dermatomyositis and polymyositis with anti-tumor-necrosis-factor-alpha: preliminary observations. Eur Neurol (2003) 0.96
Health status in non-dystrophic myotonias: close relation with pain and fatigue. J Neurol (2009) 0.96
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Brain (2003) 0.95
The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases. Neurobiol Dis (2012) 0.95
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. J Med Genet (2007) 0.95
Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes. Neuromuscul Disord (2009) 0.94
Calcium regulation and muscle disease. J Muscle Res Cell Motil (2002) 0.94
Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations. Otol Neurotol (2005) 0.94
Diminished central activation during maximal voluntary contraction in chronic fatigue syndrome. Clin Neurophysiol (2004) 0.92
Smith-Lemli-Opitz syndrome and the DHCR7 gene. Ann Hum Genet (2003) 0.92
Associations with autoimmune disorders and HLA class I and II antigens in inclusion body myositis. Neurology (2004) 0.92
Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism. Mol Genet Metab (2006) 0.92
Open-label trial of anti-TNF-alpha in dermato- and polymyositis treated concomitantly with methotrexate. Eur Neurol (2008) 0.91
Sensory nerve conduction studies in neuralgic amyotrophy. Am J Phys Med Rehabil (2009) 0.90
Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism. NMR Biomed (2010) 0.89
High specificity of myositis specific autoantibodies for myositis compared with other neuromuscular disorders. J Neurol (2005) 0.89
Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths. Neuromuscul Disord (2002) 0.89
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. J Med Genet (2006) 0.89
The epidemiology of the Lambert-Eaton myasthenic syndrome in the Netherlands. Neurology (2004) 0.88
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray. Neuropediatrics (2003) 0.88
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. J Immunol Methods (2003) 0.87
MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level. Neth J Med (2012) 0.87
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. Neurology (2006) 0.87
Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I. Acta Neurol Scand (2007) 0.86
Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation. J Neurol (2007) 0.86
Balance control in patients with distal versus proximal muscle weakness. Neuroscience (2009) 0.85
Central adaptations during repetitive contractions assessed by the readiness potential. Eur J Appl Physiol (2006) 0.85
Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. J Neurol Neurosurg Psychiatry (2004) 0.84
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis. Biochim Biophys Acta (2011) 0.82
Epidemiology and pathophysiology of falls in facioscapulohumeral disease. J Neurol Neurosurg Psychiatry (2009) 0.81
Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. J Inherit Metab Dis (2010) 0.81
[Facioscapulohumeral muscular dystrophy]. Ned Tijdschr Tandheelkd (2010) 0.81
Dysphagia is present but mild in myotonic dystrophy type 2. Neuromuscul Disord (2009) 0.81
Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr (2007) 0.81
Histology of hereditary neuralgic amyotrophy. J Neurol Neurosurg Psychiatry (2005) 0.80
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. J Inherit Metab Dis (2008) 0.80
No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2006) 0.79
Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency. Neurology (2007) 0.78
Trunk sway analysis to quantify the warm-up phenomenon in myotonia congenita patients. J Neurol Neurosurg Psychiatry (2008) 0.78
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood. J Inherit Metab Dis (2004) 0.78
Skeletal muscle involvement in myotonic dystrophy type 2. A comparative muscle ultrasound study. Neuromuscul Disord (2012) 0.78
Warming up improves speech production in patients with adult onset myotonic dystrophy. J Commun Disord (2006) 0.78
New pattern of brain MRI lesions in isolated complex I deficiency. Neuropediatrics (2003) 0.78
A new phenotype of autosomal dominant nemaline myopathy. Neuromuscul Disord (2002) 0.78
Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system. J Inherit Metab Dis (2005) 0.78
The human complex I NDUFS4 subunit: from gene structure to function and pathology. Mitochondrion (2002) 0.77
Speech pathology interventions in patients with neuromuscular diseases: a systematic review. Folia Phoniatr Logop (2010) 0.77
Dysphagia, malnutrition and gastrointestinal problems in patients with mitochondrial disease caused by the m3243A>G mutation. Neth J Med (2015) 0.77
[Risk of acute hepatic insufficiency in children due to chronic accidental overdose of paracetamol (acetaminophen)]. Ned Tijdschr Geneeskd (2007) 0.76
The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report. J Inherit Metab Dis (2006) 0.76
Nijmegen breakage syndrome: a neuropathological study. Neuropediatrics (2003) 0.75
[Diagnostic image (275). A man with acute shoulder pain followed by shoulder weakness]. Ned Tijdschr Geneeskd (2006) 0.75
Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy. J Neurol Neurosurg Psychiatry (2006) 0.75
[The spectrum of hereditary skeletal-muscle channelopathies]. Ned Tijdschr Geneeskd (2005) 0.75
[The practice guideline 'Dermatomyositis, polymyositis and sporadic inclusion body myositis']. Ned Tijdschr Geneeskd (2005) 0.75
Myotonia and flaccid dysarthria in patients with adult onset myotonic dystrophy. J Neurol Neurosurg Psychiatry (2004) 0.75
Proteomics and neuromuscular diseases: theoretical concept and first results. Ann Clin Biochem (2003) 0.75
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. Genet Couns (2007) 0.75
Muscle tissue oxygenation as a functional tool in the follow up of dermatomyositis. J Neurol Neurosurg Psychiatry (2002) 0.75
Mitochondrial dysfunction in a patient with Joubert syndrome. Neuropediatrics (2005) 0.75
Optimizing referral of patients with neuromuscular disorders to allied health care. Eur J Neurol (2009) 0.75
Muscle function during repetitive moderate-intensity muscle contractions in myoadenylate deaminase-deficient Dutch subjects. Clin Sci (Lond) (2002) 0.75
Less is more: treatment of aggravating behaviour in myasthenia gravis patients with dysphagia. Eur J Neurol (2002) 0.75