Published in Muscle Nerve on August 20, 1981
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve (2013) 2.47
Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy. Neurology (2011) 1.86
Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Investig (Lond) (2011) 1.84
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve (2013) 1.63
The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve (2013) 1.48
Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy. Neuromuscul Disord (2011) 1.27
A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy. Neuromuscul Disord (2006) 1.13
Participation and quality of life in children with Duchenne muscular dystrophy using the International Classification of Functioning, Disability, and Health. Health Qual Life Outcomes (2012) 1.12
Relationship between clinical outcome measures and parent proxy reports of health-related quality of life in ambulatory children with Duchenne muscular dystrophy. J Child Neurol (2010) 1.10
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med (2012) 1.06
Muscle and joint elastic properties during elbow flexion in Duchenne muscular dystrophy. J Physiol (2001) 1.05
Muscle fat-fraction and mapping in Duchenne muscular dystrophy: evaluation of disease distribution and correlation with clinical assessments. Preliminary experience. Skeletal Radiol (2011) 1.02
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. Orphanet J Rare Dis (2013) 1.01
Patterns of decline in upper limb function of boys and men with DMD: an international survey. J Neurol (2014) 0.97
Cooperative International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy. Muscle Nerve (2014) 0.95
Living with muscular dystrophy: health related quality of life consequences for children and adults. Health Qual Life Outcomes (2007) 0.94
Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by Kinect. Muscle Nerve (2014) 0.94
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. J Neurol Neurosurg Psychiatry (2012) 0.93
Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy. Neuromuscul Disord (2013) 0.92
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain (2013) 0.92
Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy. Neuromuscul Disord (2013) 0.90
Upper extremity 3-dimensional reachable workspace analysis in dystrophinopathy using Kinect. Muscle Nerve (2015) 0.90
Validity, Reliability, and Sensitivity of a 3D Vision Sensor-based Upper Extremity Reachable Workspace Evaluation in Neuromuscular Diseases. PLoS Curr (2013) 0.90
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial. PLoS One (2015) 0.90
A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol (2008) 0.89
Effectiveness of diffusion tensor imaging in assessing disease severity in Duchenne muscular dystrophy: preliminary study. Pediatr Radiol (2014) 0.86
Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. Am J Hum Genet (1985) 0.84
International workshop on assessment of upper limb function in Duchenne Muscular Dystrophy: Rome, 15-16 February 2012. Neuromuscul Disord (2012) 0.84
Effects of tacrolimus on dermatomyositis and polymyositis: a prospective, open, non-randomized study of nine patients and a review of the literature. Clin Rheumatol (2012) 0.84
Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. J Neurol (2010) 0.84
Pentoxifylline as a rescue treatment for DMD: a randomized double-blind clinical trial. Neurology (2012) 0.83
The correlation analysis of functional factors and age with duchenne muscular dystrophy. Ann Rehabil Med (2012) 0.83
The motor unit in muscular dystrophy, a single fibre EMG and scanning EMG study. J Neurol Neurosurg Psychiatry (1983) 0.83
Physical training in boys with Duchenne Muscular Dystrophy: the protocol of the No Use is Disuse study. BMC Pediatr (2010) 0.83
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. Mol Ther (2014) 0.82
The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis (2011) 0.82
The role of the neuromuscular medicine and physiatry specialists in the multidisciplinary management of neuromuscular disease. Phys Med Rehabil Clin N Am (2012) 0.82
Assessment of intramuscular lipid and metabolites of the lower leg using magnetic resonance spectroscopy in boys with Duchenne muscular dystrophy. Neuromuscul Disord (2014) 0.81
MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy. Neuromuscul Disord (2012) 0.81
Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil (2014) 0.80
Longitudinal Evaluation of Muscle Composition Using Magnetic Resonance in 4 Boys With Duchenne Muscular Dystrophy: Case Series. Phys Ther (2015) 0.80
Timed motor function tests capacity in healthy children. Arch Dis Child (2015) 0.78
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation. Am J Med Genet A (2012) 0.78
Variables associated with upper extremity function in patients with Duchenne muscular dystrophy. J Neurol (2016) 0.77
Upper extremity 3-dimensional reachable workspace assessment in amyotrophic lateral sclerosis by Kinect sensor. Muscle Nerve (2015) 0.77
Exon deletion pattern in duchene muscular dystrophy in north west of iran. Iran J Child Neurol (2015) 0.77
Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program. Orphanet J Rare Dis (2015) 0.76
A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment. PLoS One (2016) 0.75
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. Neurol Genet (2017) 0.75
Magnetic resonance imaging of the proximal upper extremity musculature in boys with Duchenne muscular dystrophy. J Neurol (2016) 0.75
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases. Arch Phys Med Rehabil (2014) 0.75
Patients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks. Braz J Med Biol Res (2017) 0.75
Reliability of home-based, motor function measure in hereditary neuromuscular diseases. J Int Med Res (2017) 0.75
Muscle fiber types: how many and what kind? Arch Neurol (1970) 5.51
The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29
Three "myosin adenosine triphosphatase" systems: the nature of their pH lability and sulfhydryl dependence. J Histochem Cytochem (1970) 3.77
Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med (1989) 3.32
The histographic analysis of human muscle biopsies with regard to fiber types. 1. Adult male and female. Neurology (1969) 2.94
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol (1994) 2.82
Inclusion body myositis and myopathies. Ann Neurol (1995) 2.68
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Risk of seizures and encephalopathy after immunization with the diphtheria-tetanus-pertussis vaccine. JAMA (1990) 2.54
Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell (1991) 2.48
Neurological complications of immunization. Ann Neurol (1982) 2.25
Microvascular deposition of complement membrane attack complex in dermatomyositis. N Engl J Med (1986) 2.22
The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain (2005) 2.17
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet (1995) 2.17
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology (1991) 2.16
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell (1994) 2.15
Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve (1983) 1.99
The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies. Neurology (1969) 1.93
Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain (2007) 1.91
Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology (1989) 1.90
Chronic inflammatory demyelinating polyradiculoneuropathy. Clinical characteristics, course, and recommendations for diagnostic criteria. Arch Neurol (1989) 1.88
Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol (1999) 1.81
The relationship of complement-mediated microvasculopathy to the histologic features and clinical duration of disease in dermatomyositis. Arch Neurol (1991) 1.81
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet (1992) 1.81
Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol (1991) 1.78
Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months) Neurology (1993) 1.75
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology (2001) 1.75
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron (1992) 1.75
Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol (1994) 1.68
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum Mol Genet (1993) 1.67
The natural history of acute confusional migraine. Arch Neurol (1978) 1.66
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain (2009) 1.65
The histographic analysis of human muscle biopsies with regard to fiber types. 2. Diseases of the upper and lower motor neuron. Neurology (1969) 1.64
NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology (2005) 1.63
Lack of toxicity of alpha-sarcoglycan overexpression supports clinical gene transfer trial in LGMD2D. Neurology (2008) 1.63
Some comments on the histochemical characterization of muscle adenosine triphosphatase. J Histochem Cytochem (1969) 1.63
Painful sensory neuropathy: prospective evaluation using skin biopsy. Neurology (1999) 1.62
Leucine incorporation into mixed skeletal muscle protein in humans. Am J Physiol (1988) 1.62
Toxic polyneuropathy due to methyl n-butyl ketone. An industrial outbreak. Arch Neurol (1975) 1.62
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol (1996) 1.60
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet (1998) 1.56
Improving adherence to dementia guidelines through education and opinion leaders. A randomized, controlled trial. Ann Intern Med (1999) 1.53
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet (1996) 1.52
Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology (1993) 1.52
Immunosuppressive treatment of motor neuron syndromes. Attempts to distinguish a treatable disorder. Arch Neurol (1994) 1.52
Quality improvement in neurology residency programs. Report of the Quality Improvement Committee of the Association of University Professors of Neurology. Neurology (1997) 1.49
Histochemical studies of denervated or tenotomized cat muscle: illustrating difficulties in relating experimental animal conditions to human neuromuscular diseases. Ann N Y Acad Sci (1966) 1.48
Peripheral nerve vasculitis: immune characterization of the vascular lesions. Ann Neurol (1989) 1.46
Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve (1994) 1.44
Sequence of changes in body composition induced by testosterone and reversal of changes after drug is stopped. JAMA (1992) 1.43
Risk of seizures after measles-mumps-rubella immunization. Pediatrics (1991) 1.43
Andersen's syndrome: a distinct periodic paralysis. Ann Neurol (1997) 1.42
Toxic polyneuropathy produced by methyl N-butyl ketone. Science (1974) 1.42
Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness. Ann Intern Med (1970) 1.41
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol (1993) 1.41
Long-term benefit from prednisone therapy in Duchenne muscular dystrophy. Neurology (1991) 1.40
Neurogenic atrophy simulating facioscapulohumeral dystrophy. A dominant form. Arch Neurol (1967) 1.39
Evidence for central nervous system demyelination in chronic inflammatory demyelinating polyradiculoneuropathy. Neurology (1987) 1.36
Normal median nerve proximal latency in carpal tunnel syndrome: a clue to coexisting Martin-Gruber anastomosis. J Neurol Neurosurg Psychiatry (1976) 1.34
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology (1994) 1.33
Hereditary paroxysmal ataxia: response to acetazolamide. Neurology (1978) 1.33
Superficial peroneal nerve/peroneus brevis muscle biopsy in vasculitic neuropathy. Neurology (2000) 1.31
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol (2001) 1.31
Peripheral nerve changes induced by methyl n-butyl ketone and potentiation by methyl ethyl ketone. J Neuropathol Exp Neurol (1976) 1.30
Acute inflammatory polyradiculoneuropathy following Hymenoptera stings. JAMA (1982) 1.29
The histographic analysis of human muscle biopsies with regard to fiber types. 3. Myotonias, myasthenia gravis, and hypokalemic periodic paralysis. Neurology (1969) 1.29
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann Neurol (1989) 1.28
Plasma exchange and intravenous immunoglobulin treatment of neuromuscular disease. Ann Neurol (1994) 1.28
Duchenne muscular dystrophy: functional ischemia reproduces its characteristic lesions. Science (1971) 1.26
Reducing body myopathy. Neurology (1972) 1.26
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology (1980) 1.25
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24
Late onset hereditary distal myopathy. Neurology (1974) 1.24
Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol (1997) 1.23
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet (1995) 1.23
The treatment of prolonged seizure activity with intravenous diazepam. J Pediatr (1968) 1.22
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet (1994) 1.22
Intracranial hemorrhage in the term newborn. Arch Neurol (1984) 1.22
Increased serum creatine kinase after exercise: a sex-linked phenomenon. Neurology (1979) 1.21
Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology (2007) 1.21
Hereditary myokymia and periodic ataxia. J Neurol Sci (1975) 1.21
Polyneuropathy and IgM monoclonal gammopathy: studies on the pathogenetic role of anti-myelin-associated glycoprotein antibody. Ann Neurol (1985) 1.20