Published in J Rehabil Med on February 01, 2008
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis (2014) 1.00
Evaluation of dexterity in insulin-treated patients with type 1 and type 2 diabetes mellitus. J Diabetes Sci Technol (2011) 0.96
Flexor digitorum superficialis opposition tendon transfer improves hand function in children with Charcot-Marie-Tooth disease: case series. Neuromuscul Disord (2012) 0.76
Identification of three movement phases of the hand during lateral and pulp pinches using video motion capture. Hand (N Y) (2013) 0.75
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology (2012) 3.61
Cervical collar or physiotherapy versus wait and see policy for recent onset cervical radiculopathy: randomised trial. BMJ (2009) 2.98
119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10-12 October 2003, Naarden, The Netherlands. Neuromuscul Disord (2004) 2.85
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl) (2004) 2.81
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28
A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes. Arch Neurol (2009) 2.17
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain (2014) 2.16
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry (2011) 2.08
Is the Frontal Assessment Battery reliable in ALS patients? Amyotroph Lateral Scler Frontotemporal Degener (2012) 2.06
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord (2002) 1.89
Lifetime physical activity and the risk of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2013) 1.86
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet (2010) 1.81
Immediate effect of a wrist and thumb brace on bimanual activities in children with hemiplegic cerebral palsy. Dev Med Child Neurol (2011) 1.62
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology (2012) 1.62
Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 1.62
Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry (2013) 1.57
Functional status after intensive care: a challenge for rehabilitation professionals to improve outcome. J Rehabil Med (2009) 1.56
Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature. Arch Neurol (2009) 1.54
The Infant Behavioral Assessment and Intervention Program for very low birth weight infants at 6 months corrected age. J Pediatr (2008) 1.51
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet (2004) 1.50
Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol (2006) 1.47
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Generalized joint hypermobility in professional dancers: a sign of talent or vulnerability? Rheumatology (Oxford) (2012) 1.43
Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann Neurol (2008) 1.42
A candidate core set of outcome measures based on the International Classification of Functioning, Disability and Health for clinical studies on lower limb orthoses. Prosthet Orthot Int (2011) 1.40
A randomized sequential trial of creatine in amyotrophic lateral sclerosis. Ann Neurol (2003) 1.39
Clinical assessment of spasticity in children with cerebral palsy: a critical review of available instruments. Dev Med Child Neurol (2006) 1.37
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet (2008) 1.34
A neurobehavioral intervention and assessment program in very low birth weight infants: outcome at 24 months. J Pediatr (2009) 1.26
The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study. Brain (2009) 1.25
Shoulder contracture and osseous deformity in obstetrical brachial plexus injuries. J Bone Joint Surg Am (2003) 1.25
Subcutaneous immunoglobulin therapy for multifocal motor neuropathy. J Peripher Nerv Syst (2009) 1.21
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
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
Poor functional recovery after a critical illness: a longitudinal study. J Rehabil Med (2009) 1.15
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat (2008) 1.14
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat (2006) 1.14
Validity of the Canadian Occupational Performance Measure: a client-centred outcome measurement. Clin Rehabil (2004) 1.14
Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests. BMC Neurol (2010) 1.13
Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study. Brain (2011) 1.13
Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Med (2009) 1.12
Effects of exercise in patients treated with stem cell transplantation for a hematologic malignancy: a systematic review and meta-analysis. Cancer Treat Rev (2013) 1.11
Responsiveness of the Impact on Participation and Autonomy questionnaire. Arch Phys Med Rehabil (2002) 1.10
Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study. Am J Epidemiol (2012) 1.10
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Arch Neurol (2010) 1.08
Prior medical conditions and the risk of amyotrophic lateral sclerosis. J Neurol (2014) 1.05
Disease course and prognostic factors of progressive muscular atrophy. Arch Neurol (2007) 1.05
Feasibility and effectiveness of pre-operative inspiratory muscle training in patients undergoing oesophagectomy: a pilot study. Physiother Res Int (2012) 1.04
Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients. J Neurol (2005) 1.04
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord (2003) 1.04
Intravenous immunoglobulin for chronic inflammatory demyelinating polyradiculoneuropathy. Cochrane Database Syst Rev (2009) 1.04
Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. Pharmacoepidemiol Drug Saf (2009) 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
The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis. Amyotroph Lateral Scler (2010) 1.01
Lovastatin in X-linked adrenoleukodystrophy. N Engl J Med (2010) 1.01
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis (2014) 1.00
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study. Brain (2010) 1.00
Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo. Ann Neurol (2002) 0.99
Cross-diagnostic validity of the SF-36 physical functioning scale in patients with stroke, multiple sclerosis and amyotrophic lateral sclerosis: a study using Rasch analysis. J Rehabil Med (2007) 0.98
VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging (2011) 0.98
Effect of custom-made footwear on foot ulcer recurrence in diabetes: a multicenter randomized controlled trial. Diabetes Care (2013) 0.98
Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia. J Neurol (2004) 0.97
Measuring activity limitations in walking: development of a hierarchical scale for patients with lower-extremity disorders who live at home. Arch Phys Med Rehabil (2005) 0.95
UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging (2011) 0.95
The history of progressive muscular atrophy: syndrome or disease? Neurology (2008) 0.94
Small fiber neuropathy in Fabry disease. Mol Genet Metab (2012) 0.93
Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy. J Neurol Neurosurg Psychiatry (2010) 0.93
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. Ann Neurol (2005) 0.93
Intravenous immunoglobulin for chronic inflammatory demyelinating polyradiculoneuropathy. Cochrane Database Syst Rev (2013) 0.93
Circumstances and consequences of falls in polio survivors. J Rehabil Med (2010) 0.93
The relation between small nerve fibre function, age, disease severity and pain in Fabry disease. Eur J Pain (2011) 0.92
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul Disord (2002) 0.92
Poor functional status immediately after discharge from an intensive care unit. Disabil Rehabil (2008) 0.92
The Infant Behavioral Assessment and Intervention Program to support preterm infants after hospital discharge: a pilot study. Dev Med Child Neurol (2005) 0.92
Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features. Mov Disord (2005) 0.92
A 5-year longitudinal study of fatigue in patients with late-onset sequelae of poliomyelitis. Arch Phys Med Rehabil (2011) 0.92
Predictive factors of cessation of ambulation in patients with Duchenne muscular dystrophy. Am J Phys Med Rehabil (2002) 0.92
The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS. Neurology (2012) 0.92
Treatment of internal rotation contracture of the shoulder in obstetric brachial plexus lesions by subscapular tendon lengthening and open reduction: early results and complications. J Pediatr Orthop B (2004) 0.91
Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology (2005) 0.91
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient. Neurobiol Aging (2012) 0.91
No evidence for the effectiveness of bracing in patients with thoracolumbar fractures. Acta Orthop (2009) 0.90
Adherence to wearing prescription custom-made footwear in patients with diabetes at high risk for plantar foot ulceration. Diabetes Care (2013) 0.90