Published in N Engl J Med on July 06, 1995
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
A controlled trial of high-dose intravenous immune globulin infusions as treatment for dermatomyositis. N Engl J Med (1993) 3.74
Mitochondrial myopathy caused by long-term zidovudine therapy. N Engl J Med (1990) 3.52
Aseptic meningitis associated with high-dose intravenous immunoglobulin therapy: frequency and risk factors. Ann Intern Med (1994) 3.42
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet (1996) 3.02
Mitochondrial toxicity of antiviral drugs. Nat Med (1995) 2.83
Segregation of leading-edge and uropod components into specific lipid rafts during T cell polarization. Proc Natl Acad Sci U S A (2001) 2.55
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet (1998) 2.17
A study of the interferon antiviral mechanism: apoptosis activation by the 2-5A system. J Exp Med (1997) 2.15
Dysphagia in patients with the post-polio syndrome. N Engl J Med (1991) 2.09
Guidelines for treatment of autoimmune neuromuscular transmission disorders. Eur J Neurol (2010) 2.03
Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy. Ann Neurol (2001) 2.00
Infusion of platelets transiently reduces nucleoside overload in MNGIE. Neurology (2006) 1.98
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell (2001) 1.83
Desmin myopathy. Brain (2004) 1.79
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology (2010) 1.79
The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid. Ann Intern Med (1999) 1.64
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A (1993) 1.62
Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology (2001) 1.60
A long-term follow-up study of patients with post-poliomyelitis neuromuscular symptoms. N Engl J Med (1986) 1.53
Motor control in humans with large-fiber sensory neuropathy. Hum Neurobiol (1985) 1.52
Proinflammatory cell stress in sporadic inclusion body myositis muscle: overexpression of alphaB-crystallin is associated with amyloid precursor protein and accumulation of beta-amyloid. J Neurol Neurosurg Psychiatry (2009) 1.51
Mitochondrial alterations with mitochondrial DNA depletion in the nerves of AIDS patients with peripheral neuropathy induced by 2'3'-dideoxycytidine (ddC). Lab Invest (2001) 1.50
IgM in a human neuropathy related to paraproteinemia binds to a carbohydrate determinant in the myelin-associated glycoprotein and to a ganglioside. Proc Natl Acad Sci U S A (1984) 1.49
Chronic relapsing (dysimmune) polyneuropathy: pathogenesis and treatment. Ann Neurol (1981) 1.48
Vigorimeter grip strength in CIDP: a responsive tool that rapidly measures the effect of IVIG--the ICE study. Eur J Neurol (2012) 1.45
Modafinil for treatment of fatigue in post-polio syndrome: a randomized controlled trial. Neurology (2007) 1.43
Clinical status of motoneuron disease does not correlate with serum neurotoxicity on cultured neurons. Acta Neurol Scand (1992) 1.39
[Antiganglioside antibodies: when, which and for what]. Neurologia (2001) 1.39
Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation. Neurology (1996) 1.39
Late postpoliomyelitis muscular atrophy: clinical, virologic, and immunologic studies. Rev Infect Dis (1984) 1.38
Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells. Ann Neurol (1992) 1.32
Monoclonal IgM in a patient with paraproteinemic polyneuropathy binds to gangliosides containing disialosyl groups. Ann Neurol (1985) 1.32
Inter-laboratory validation of an ELISA for the determination of serum anti-ganglioside antibodies. Eur J Neurol (1999) 1.28
Early features of zidovudine-associated myopathy: histopathological findings and clinical correlations. Acta Neuropathol (1995) 1.26
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci (1998) 1.25
Urokinase-dependent plasminogen activation is required for efficient skeletal muscle regeneration in vivo. Blood (2001) 1.25
Polymyositis associated with AIDS retrovirus. JAMA (1986) 1.23
A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord (2008) 1.20
Motor deficits in patients with large-fiber sensory neuropathy. Proc Natl Acad Sci U S A (1984) 1.20
Long-lasting treatment effect of rituximab in MuSK myasthenia. Neurology (2012) 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
Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord (2006) 1.17
Viruses in idiopathic inflammatory myopathies: absence of candidate viral genomes in muscle. Lancet (1992) 1.17
Myasthenia gravis: a higher than expected incidence in the elderly. Neurology (2003) 1.16
Lactic acidosis and hepatic steatosis associated with use of stavudine: report of four cases. Ann Intern Med (2000) 1.16
Polyneuropathy with monoclonal gammopathy: studies of 11 patients. Ann Neurol (1981) 1.14
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology (2001) 1.13
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med (1988) 1.12
High-dose intravenous immunoglobulin exerts its beneficial effect in patients with dermatomyositis by blocking endomysial deposition of activated complement fragments. J Clin Invest (1994) 1.11
Metabolic abnormalities in skeletal muscle of patients receiving zidovudine therapy observed by 31P in vivo magnetic resonance spectroscopy. J Clin Invest (1995) 1.11
Chronic idiopathic ataxic neuropathy. Ann Neurol (1986) 1.11
Absence of persistent infection with enteroviruses in muscles of patients with inflammatory myopathies. Ann Neurol (1992) 1.10
Why drugs fail in postpolio syndrome: lessons from another clinical trial. Neurology (1999) 1.07
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. Eur J Neurol (2006) 1.04
Safety and efficacy of strength training in patients with sporadic inclusion body myositis. Muscle Nerve (1997) 1.04
Peripheral neuropathies in Sjögren's syndrome: a critical update on clinical features and pathogenetic mechanisms. J Autoimmun (2012) 1.04
Update on idiopathic inflammatory myopathies. Autoimmunity (2006) 1.03
Progressive nemaline (rod) myopathy associated with HIV infection. N Engl J Med (1987) 1.02
Antibodies to acidic glycolipids in Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy. J Neurol Sci (1992) 1.02
Molecular mimicry in chronic inflammatory demyelinating polyneuropathy and melanoma. Neurology (1998) 1.01
Effect of intraventricular injection of an anti-Purkinje cell antibody (anti-Yo) in a guinea pig model. J Neurol Sci (1991) 1.00
MHC class I-mediated cytotoxicity does not induce apoptosis in muscle fibers nor in inflammatory T cells: studies in patients with polymyositis, dermatomyositis, and inclusion body myositis. J Neuropathol Exp Neurol (1996) 0.99
Abnormal skeletal and cardiac muscle mitochondria induced by zidovudine (AZT) in human muscle in vitro and in an animal model. Lab Invest (1991) 0.99
Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet (2000) 0.99
Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy. Cell Death Dis (2010) 0.99
Acute axonal Guillain-Barré syndrome with IgG antibodies against motor axons following parenteral gangliosides. Ann Neurol (1995) 0.99
Distinct seasonal patterns in the onset of adult idiopathic inflammatory myopathy in patients with anti-Jo-1 and anti-signal recognition particle autoantibodies. Arthritis Rheum (1991) 0.98
Chronic neuropathy with IgM anti-ganglioside antibodies: lack of long term response to rituximab. Neurology (2003) 0.98
Human schwann cells in tissue culture: histochemical and ultrastructural studies. Arch Neurol (1980) 0.98
Mitochondrial and cellular toxicity induced by fialuridine in human muscle in vitro. Lab Invest (1997) 0.98
Demyelination induced by intraneural injection of human antimyelin-associated glycoprotein antibodies. Muscle Nerve (1988) 0.98
Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochem Med Metab Biol (1992) 0.97
Immunoglobulin and complement deposits in nerves of patients with chronic relapsing polyneuropathy. Arch Neurol (1980) 0.97
Treatment of "permanent" muscle weakness in familial Hypokalemic Periodic Paralysis. Muscle Nerve (1983) 0.97
Downregulation of TGF-beta1 mRNA and protein in the muscles of patients with inflammatory myopathies after treatment with high-dose intravenous immunoglobulin. Clin Immunol (2000) 0.96
Cortical motor-sensory hypometabolism in amyotrophic lateral sclerosis: a PET study. J Comput Assist Tomogr (1988) 0.95
Disease progression in sporadic inclusion body myositis: observations in 78 patients. Neurology (2000) 0.95
Anti-MAG IgM paraproteins from some patients with polyneuropathy associated with IgM paraproteinemia also react with sulfatide. J Neuroimmunol (1992) 0.95
Immune-mediated conditions and antibodies associated with sporadic inclusion body myositis. Muscle Nerve (1998) 0.95
Motor cortex excitability in stiff-person syndrome. Brain (2000) 0.95
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol (2005) 0.95
Transmission of simian acquired immunodeficiency syndrome (SAIDS) with blood or filtered plasma. Science (1984) 0.94
Expression of matrix metalloproteinases in the muscle of patients with inflammatory myopathies. Neurology (2000) 0.93
Cellular localization of poliovirus RNA in the spinal cord during acute paralytic poliomyelitis. Ann N Y Acad Sci (1995) 0.93
Clinical applications of intravenous immunoglobulins in neurology. Clin Exp Immunol (2009) 0.92
Autoimmune autonomic failure in a patient with myeloma-associated Shy-Drager syndrome. Clin Auton Res (1996) 0.91
Thalamic hemorrhage. A study of 23 patients with diagnosis by computed tomography. Stroke (1982) 0.91
The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology (1996) 0.91
Increased circulation of T lymphocytes bearing surface thymosin alpha 1 in patients with myasthenia gravis: effect of thymectomy. Neurology (1983) 0.91
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. J Neurol Neurosurg Psychiatry (2007) 0.91
Clonal restriction of T-cell receptor expression by infiltrating lymphocytes in inclusion body myositis persists over time. Studies in repeated muscle biopsies. Brain (2000) 0.91
Utility of anti-Hu antibodies in the diagnosis of paraneoplastic sensory neuropathy. Ann Neurol (1998) 0.91