Published in Ann Intern Med on July 01, 1970
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest (2002) 2.48
Hypokalaemic paralysis. Postgrad Med J (1999) 2.07
Neurological channelopathies. Postgrad Med J (2005) 1.98
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. Proc Natl Acad Sci U S A (2009) 1.77
Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis? J Physiol (2010) 1.09
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G). J Korean Med Sci (2005) 0.84
Clinical and ultrastructural observations in a kindred with normo-hyperkalaemic periodic paralysis. J Med Genet (1975) 0.83
Familial hypokalaemic periodic paralysis in Finland. J Neurol Neurosurg Psychiatry (1992) 0.82
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. Acta Myol (2012) 0.81
Myotonia--a different point of view. Calif Med (1971) 0.81
Improvement of muscle strength in familial hypokalaemic periodic paralysis with acetazolamide. J Neurol Neurosurg Psychiatry (1988) 0.81
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis. Neurology (2013) 0.80
Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis. Neurology (2016) 0.78
Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis. Brain (2013) 0.76
Premenstrual periodic paralysis. J Neurol Neurosurg Psychiatry (1981) 0.75
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
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell (1991) 2.48
Selective and nonselective susceptibility of muscle fiber types. A new approach to human neuromuscular diseases. Arch Neurol (1970) 2.33
Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects. Neurology (1977) 2.19
The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain (2005) 2.17
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell (1994) 2.15
Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve (1981) 2.06
Benefit from alternate-day prednisone in myasthenia gravis. N Engl J Med (1972) 2.00
Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve (1983) 1.99
Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication. Proc Natl Acad Sci U S A (2001) 1.94
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
Vascular deposits of immunoglobulin and complement in idiopathic inflammatory myopathy. N Engl J Med (1972) 1.90
Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology (1989) 1.90
Effect on weakness and spasticity in amyotrophic lateral sclerosis of thyrotropin-releasing hormone. Lancet (1983) 1.90
Myasthenia gravis: a serum factor blocking acetylcholine receptors of the human neuromuscular junction. Lancet (1975) 1.84
Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies. J Neuropathol Exp Neurol (1996) 1.82
Ocular motor abnormalities in hereditary cerebellar ataxia. Brain (1976) 1.79
Single cholinergic receptor channel currents in cultured human muscle. J Neurosci (1982) 1.79
Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron (1992) 1.75
Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. Arch Neurol (1972) 1.72
Neuromuscular disease in primary hyperparathyroidism. Ann Intern Med (1974) 1.69
Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol (1994) 1.68
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
Leucine incorporation into mixed skeletal muscle protein in humans. Am J Physiol (1988) 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
Improving adherence to dementia guidelines through education and opinion leaders. A randomized, controlled trial. Ann Intern Med (1999) 1.53
Use of anti-neurofilament antibody to identify paired-helical filaments in inclusion-body myositis. Ann Neurol (1996) 1.51
beta-Amyloid precursor epitopes in muscle fibers of inclusion body myositis. Ann Neurol (1993) 1.49
Chronic relapsing (dysimmune) polyneuropathy: pathogenesis and treatment. Ann Neurol (1981) 1.48
Myoglobinaemia in Duchenne muscular dystrophy patients and carriers: A new adjunct to carrier detection. Lancet (1978) 1.48
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
Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. Arch Neurol (1968) 1.47
Light and electron microscopic localization of beta-amyloid protein in muscle biopsies of patients with inclusion-body myositis. Am J Pathol (1992) 1.47
"Type grouping" in skeletal muscles after experimental reinnervation. Neurology (1968) 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
Andersen's syndrome: a distinct periodic paralysis. Ann Neurol (1997) 1.42
Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res (1970) 1.42
Long-term benefit from prednisone therapy in Duchenne muscular dystrophy. Neurology (1991) 1.40
Paralysis of innervated cultured human muscle fibers affects enzymes differentially. J Neurochem (1990) 1.40
Twisted tubulofilaments of inclusion body myositis muscle resemble paired helical filaments of Alzheimer brain and contain hyperphosphorylated tau. Am J Pathol (1994) 1.37
Axonal transport of proteins in experimental neuropathies. Science (1969) 1.36
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology (1994) 1.33
Transfer of beta-amyloid precursor protein gene using adenovirus vector causes mitochondrial abnormalities in cultured normal human muscle. Proc Natl Acad Sci U S A (1996) 1.33
Hereditary paroxysmal ataxia: response to acetazolamide. Neurology (1978) 1.33
A new program for investigating adult human skeletal muscle grown aneurally in tissue culture. Neurology (1975) 1.31
Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol (2001) 1.31
Polymyositis: remarkable response to total body irradiation. Lancet (1981) 1.30
The histographic analysis of human muscle biopsies with regard to fiber types. 3. Myotonias, myasthenia gravis, and hypokalemic periodic paralysis. Neurology (1969) 1.29
Plasma exchange and intravenous immunoglobulin treatment of neuromuscular disease. Ann Neurol (1994) 1.28
The essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular disease. 1962. Neurology (1998) 1.27
Experimental myopathy after microarterial embolization; comparison with childhood x-linked pseudohypertrophic muscular dystrophy. Arch Neurol (1970) 1.26
Duchenne muscular dystrophy: functional ischemia reproduces its characteristic lesions. Science (1971) 1.26
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
Histochemical investigation of fiber type ratios with the myofibrillar ATP-ase reaction in normal and denervated skeletal muscles of guinea pig. Am J Anat (1968) 1.22
Inclusion-body myositis: newest concepts of pathogenesis and relation to aging and Alzheimer disease. J Neuropathol Exp Neurol (2001) 1.22
Hereditary myokymia and periodic ataxia. J Neurol Sci (1975) 1.21
Impaired skeletal muscle maturation following neonatal neurectomy. Dev Biol (1968) 1.21
Polyneuropathy and IgM monoclonal gammopathy: studies on the pathogenetic role of anti-myelin-associated glycoprotein antibody. Ann Neurol (1985) 1.20
Neuronal trophic function. A new aspect demonstrated histochemically in developing soleus muscle. Arch Neurol (1967) 1.20
Correlative histochemical study of skeletal muscle after suprasegmental denervation, peripheral nerve section, and skeletal fixation. Neurology (1968) 1.20
Subacute sclerosing panencephalitis. Spontaneous improvement in a patient with elevated measles antibody in blood and spinal fluid. N Engl J Med (1968) 1.19
beta-Amyloid precursor protein mRNA is increased in inclusion-body myositis muscle. Neuroreport (1993) 1.19
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology (2010) 1.19
Tremor as a feature of chronic relapsing and dysgammaglobulinemic polyneuropathies. Incidence and management. Arch Neurol (1984) 1.18
Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol (2000) 1.17
Hereditary complement (C2) deficiency with dermatomyositis. Am J Med (1975) 1.17
Distal myopathy: electron microscopic and histochemical studies. Neurology (1977) 1.17
Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit. Neuron (1998) 1.17
Increased plasma enzyme concentrations in rats with functional ischaemia of muscle provide a possible model of Duchenne muscular dystrophy. Nature (1972) 1.17
Tamm-Horsfall protein. Abnormal localization in renal disease. Lab Invest (1978) 1.17
A histochemical-physiological correlation of frog skeletal muscle fibers. Am J Physiol (1967) 1.17
Acetazolamide prophylaxis in hypokalemic periodic paralysis. N Engl J Med (1968) 1.16
A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular dystrophy. Arch Neurol (1991) 1.16
Cardiac conduction in myotonic dystrophy. Am J Med (1975) 1.16
Megaloblastic anemia secondary to folate deficiency associated with hypothyroidism. Ann Intern Med (1968) 1.16
Genetics and physiology of the myotonic muscle disorders. N Engl J Med (1993) 1.16
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol (1996) 1.15
Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology (2001) 1.15
Neuromuscular disease in secondary hyperparathyroidism. Ann Intern Med (1975) 1.15
Immunolocalization of ubiquitin in muscle biopsies of patients with inclusion body myositis and oculopharyngeal muscular dystrophy. Neurosci Lett (1991) 1.15
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. Ann Neurol (1996) 1.15
Polyneuropathy with monoclonal gammopathy: studies of 11 patients. Ann Neurol (1981) 1.14
Clinical investigation of Duchenne muscular dystrophy. Interesting results in a trial of prednisone. Arch Neurol (1987) 1.14
Refsum's disease--a recently characterized lipidosis involving the nervous system. Combined clinical staff conference at the National Institutes of Health. Ann Intern Med (1967) 1.13
Ultrastructural localization of calcium in normal and abnormal skeletal muscle. Lab Invest (1977) 1.13
Open-biopsy electromyography. I. Correlation of motor unit behavior with histochemical muscle fiber type in human limb muscle. Arch Neurol (1972) 1.13
Note on plasma exchange therapy in Refsum's disease. Adv Neurol (1978) 1.13
Slow saccades in spinocerebellar degeneration. Arch Neurol (1976) 1.13
Cardiac manifestations in polymyositis. Am J Cardiol (1978) 1.13
Muscle pain, fatigue, and mitochondriopathies. N Engl J Med (1999) 1.12