K Arahata

Author PubWeight™ 113.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998 4.38
2 Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991 2.79
3 Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet 1998 2.66
4 Monoclonal antibody analysis of mononuclear cells in myopathies. I: Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells. Ann Neurol 1984 2.66
5 Major histocompatibility complex class I antigen expression, immunolocalization of interferon subtypes, and T cell-mediated cytotoxicity in myopathies. Hum Pathol 1989 1.89
6 Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996 1.80
7 Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy. Ann Neurol 1994 1.73
8 Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 1994 1.70
9 Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies. J Cell Sci 1997 1.68
10 Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. FEBS Lett 1997 1.67
11 The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001 1.63
12 The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991 1.59
13 Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle. J Biol Chem 1993 1.52
14 The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Neurology 1995 1.48
15 Mononuclear cells in myopathies: quantitation of functionally distinct subsets, recognition of antigen-specific cell-mediated cytotoxicity in some diseases, and implications for the pathogenesis of the different inflammatory myopathies. Hum Pathol 1986 1.44
16 Monoclonal antibody analysis of mononuclear cells in myopathies. II: Phenotypes of autoinvasive cells in polymyositis and inclusion body myositis. Ann Neurol 1984 1.43
17 Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy. J Clin Invest 1997 1.41
18 Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 2001 1.41
19 Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993 1.29
20 Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992 1.23
21 Interaction between emerin and nuclear lamins. J Biochem 2001 1.21
22 Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 2001 1.16
23 Monoclonal antibody analysis of mononuclear cells in myopathies. III: Immunoelectron microscopy aspects of cell-mediated muscle fiber injury. Ann Neurol 1986 1.16
24 Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998 1.15
25 Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001 1.13
26 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology 2003 1.10
27 Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 1999 1.09
28 MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. J Cell Biol 1998 1.09
29 Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing. J Exp Med 1995 1.05
30 Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families. Neurology 1993 1.03
31 Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet 1992 1.01
32 Cloning and characterization of two neural-salient serine/arginine-rich (NSSR) proteins involved in the regulation of alternative splicing in neurones. Genes Cells 1999 1.00
33 The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum Mol Genet 2001 0.98
34 Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 2002 0.98
35 Analysis of inflammatory cells and complement C3 in bupivacaine-induced myonecrosis. Muscle Nerve 1991 0.98
36 Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve Suppl 1995 0.96
37 Quadriceps myopathy: forme fruste of Becker muscular dystrophy. Ann Neurol 1990 0.96
38 Dystrophin-related protein in the fetal and denervated skeletal muscles of normal and mdx mice. Biochem Biophys Res Commun 1991 0.96
39 DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations. Neuromuscul Disord 1995 0.95
40 Immune effector mechanisms in inflammatory myopathies. Res Publ Assoc Res Nerv Ment Dis 1990 0.94
41 A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms. J Neurol 1990 0.93
42 Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A. Hum Mol Genet 2000 0.93
43 Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. Muscle Nerve 2000 0.93
44 Immunocytochemical analysis of dystrophin in congenital muscular dystrophy. J Neurol Sci 1991 0.93
45 Nuclear envelope proteins and associated diseases. Curr Opin Neurol 2000 0.93
46 Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy. Neuromuscul Disord 1997 0.92
47 Antibody against the C-terminal portion of dystrophin crossreacts with the 400 kDa protein in the pia mater of dystrophin-deficient mdx mouse brain. J Biochem 1990 0.92
48 The membrane attack complex of complement at the endplate in myasthenia gravis. Ann N Y Acad Sci 1987 0.91
49 Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy. Biochem Biophys Res Commun 1994 0.90
50 Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Neuropediatrics 1998 0.90
51 Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy. Eur J Biochem 1999 0.90
52 Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. Neurogenetics 1997 0.89
53 Enhancement of CPP32-like activity in the TNF-treated U937 cells by the proteasome inhibitors. Biochem Biophys Res Commun 1996 0.89
54 Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene. Am J Hum Genet 1993 0.89
55 Tongue atrophy in facioscapulohumeral muscular dystrophy. Neurology 2001 0.88
56 Up-regulation of glial cell line-derived neurotrophic factor (GDNF) expression in regenerating muscle fibers in neuromuscular diseases. Neurosci Lett 1998 0.87
57 Immunoblot analysis of dystrophin-related protein (DRP). Biochim Biophys Acta 1993 0.87
58 Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. J Neurol Sci 2001 0.86
59 Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy. Proc Natl Acad Sci U S A 1992 0.86
60 Immunohistochemical analysis of perforin and granzyme A in inflammatory myopathies. Neuromuscul Disord 1994 0.86
61 A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom. Brain Dev 1995 0.86
62 Progression in nemaline myopathy. Acta Neuropathol 1989 0.85
63 Prominent expression of glial cell line-derived neurotrophic factor in human skeletal muscle. J Comp Neurol 1998 0.84
64 A benign allelic form of laminin alpha 2 chain deficient muscular dystrophy. Lancet 1997 0.83
65 Effective adenovirus-mediated gene expression in adult murine skeletal muscle. Muscle Nerve 1999 0.83
66 Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 1999 0.83
67 Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. Neuromuscul Disord 2003 0.83
68 Calcium is essential for both the membrane binding and lytic activity of pore-forming protein (perforin) from cytotoxic T-lymphocyte. Mol Immunol 1990 0.83
69 Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques. Neuroepidemiology 1991 0.83
70 Immunostaining of dystrophin and utrophin in skeletal muscle of dystrophinopathies. Intern Med 1994 0.83
71 Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form. Neurology 1996 0.83
72 Limb-girdle muscular dystrophy: clinical and pathologic reevaluation. J Neurol Sci 1995 0.83
73 Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun 1994 0.82
74 MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. Neuromuscul Disord 1998 0.82
75 Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. Muscle Nerve 1995 0.82
76 A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. Neuromuscul Disord 1995 0.81
77 A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining: a case report. Eur J Pediatr 1992 0.81
78 Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin. Am J Hum Genet 1993 0.81
79 Presence of emerinopathy in cases of rigid spine syndrome. Neuromuscul Disord 1998 0.81
80 Degradative activity of granzyme A on skeletal muscle proteins in vitro: a possible molecular mechanism for muscle fiber damage in polymyositis. Neuromuscul Disord 1993 0.81
81 Partial deficiency of dystrophin-associated proteins in a young girl with sporadic myopathy and normal karyotype. Neurology 1993 0.80
82 Hepatocyte growth factor specifically expressed in microglia activated Ras in the neurons, similar to the action of neurotrophic factors. Biochem Biophys Res Commun 1995 0.80
83 Expression of human GFR alpha-1 (GDNF receptor) at the neuromuscular junction and myelinated nerves. Neurosci Lett 1999 0.80
84 [A case of Becker muscular dystrophy presenting cardiac failure as an initial symptom]. Rinsho Shinkeigaku 1990 0.80
85 Identification of an interleukin-1 beta converting enzyme-like activity that increases upon treatment of P19 cells with retinoic acid as the proteasome. J Biochem 1996 0.80
86 "Quadriceps myopathy": a clinical variant form of Becker muscular dystrophy. J Neurol 1990 0.79
87 Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy. Lancet 1993 0.79
88 [Cardiomyopathy in Becker muscular dystrophy]. Rinsho Shinkeigaku 1990 0.79
89 Becker muscular dystrophy with early manifestation of left heart failure. Intern Med 1993 0.79
90 [Muscle regeneration in mdx mouse, and a trial of normal myoblast transfer into regenerating dystrophic muscle]. Rinsho Shinkeigaku 1990 0.79
91 Regulation of alternative splicing in the amyloid precursor protein (APP) mRNA during neuronal and glial differentiation of P19 embryonal carcinoma cells. Brain Res 1995 0.79
92 Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells. FEBS Lett 1994 0.79
93 [Positional cloning of the gene for Miyoshi myopathy and limb-girdle muscular dystrophy]. Rinsho Shinkeigaku 1999 0.78
94 Changes in pre-mRNA splicing factors during neural differentiation in P19 embryonal carcinoma cells. Int J Biochem Cell Biol 1999 0.78
95 [A case of Down syndrome complicated with Becker muscular dystrophy]. Rinsho Shinkeigaku 1993 0.78
96 Dystrophin digest. Nature 1989 0.78
97 Isolation of a Ca-dependent erythrolytic protein (perforin) from cytotoxic T-lymphocytes. J Biochem 1987 0.78
98 Abnormal dystrophin expression in patients with limb girdle syndromes. J Neurol 1994 0.78
99 Dystrophin and the membrane hypothesis of muscular dystrophy. Trends Pharmacol Sci 1989 0.78
100 Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype. Acta Neuropathol 2000 0.77
101 Effect of artificial (CTG) repeat expansion on the expression of myotonin protein kinase (MtPK) in COS-1 cells. Biochim Biophys Acta 1996 0.77
102 Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve Suppl 1995 0.77
103 [A case of Becker muscular dystrophy with schizophrenic symptoms]. No To Shinkei 1990 0.77
104 Muscle histology in Becker muscular dystrophy. Muscle Nerve 1991 0.77
105 Detection of a fast isoform of C-protein with an antiserum directed against the N-terminal portion of dystrophin. Biochem Biophys Res Commun 1990 0.76
106 [Genetic analysis of facioscapulohumeral muscular dystrophy (FSHD)]. Rinsho Shinkeigaku 1995 0.76
107 Apolipoprotein B is a major perforin inhibitor protein in human serum. Mol Immunol 1991 0.76
108 [Gene hunting of facioscapulohumeral muscular dystrophy]. No To Shinkei 1996 0.75
109 [A novel splice-site mutation in the STA gene in a Japanese patient with Emery-Dreifuss muscular dystrophy]. Rinsho Shinkeigaku 1999 0.75
110 [The pathogenesis of Duchenne muscular dystrophy--defects of the membrane cytoskeleton "dystrophin"]. Nihon Rinsho 1989 0.75
111 [Recent advances in limb-girdle muscular dystrophy research]. Rinsho Shinkeigaku 2001 0.75
112 Emery-Dreifuss syndrome. Curr Opin Neurol 1997 0.75
113 Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. Neuropediatrics 1999 0.75
114 [Plasma exchange in intractable myasthenia gravis]. Rinsho Ketsueki 1981 0.75
115 [Emery-Dreifuss muscular dystrophy]. Nihon Rinsho 1997 0.75
116 [Congenital muscular dystrophy (CMD)]. No To Shinkei 1997 0.75
117 [Facioscapulohumeral muscular dystrophy (FSHD)]. Nihon Rinsho 1997 0.75
118 [Dystrophin-related protein in diaphragm, limb and myoblast transferred muscles of mdx mouse]. Rinsho Shinkeigaku 1994 0.75
119 [Molecular genetics of X-linked muscular dystrophy]. Nihon Rinsho 1990 0.75
120 [Genetic studies of Duchenne muscular dystrophy families using the dystrophy families using the dystrophin cDNA]. No To Hattatsu 1989 0.75
121 [Co-existence of clinical and immunohistochemical features of polymyositis and myasthenia gravis]. Rinsho Shinkeigaku 1988 0.75
122 Characterization of a tandemly repeated 3.3-kb Kpnl unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve Suppl 1995 0.75
123 [Electromyographic studies in amyotrophic lateral sclerosis--difference between several muscles]. Rinsho Shinkeigaku 1974 0.75
124 [Recent topics on inflammatory myositis]. Nihon Naika Gakkai Zasshi 1996 0.75
125 Detection of gene deletions by PCR analysis in a Malaysian patient with Duchenne muscular dystrophy. Med J Malaysia 1993 0.75
126 A novel Sac I RFLP in the 3' untranslated region of the myotonin protein kinase gene. J Hum Genet 1999 0.75
127 [Evaluation of plasma exchange in management of myasthenia gravis (author's transl)]. Rinsho Shinkeigaku 1981 0.75
128 [A rare case of adult-onset Becker muscular dystrophy diagnosed by dystrophin staining]. No To Shinkei 1991 0.75
129 [CTG-repeat in myotonin protein kinase]. Rinsho Shinkeigaku 1994 0.75
130 Video capsule endoscopy findings in Ehlers-Danlos syndrome with recurrent gastrointestinal bleeding. Endoscopy 2012 0.75
131 [Clinical and molecular genetic analyses of congenital myotonic dystrophy]. Nihon Rinsho 1997 0.75
132 Myotonia congenita with painful muscle cramps. Intern Med 1996 0.75
133 [The frequency of patients with adhalin deficiency in a muscular dystrophy patient population]. Nihon Rinsho 1997 0.75
134 Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve Suppl 1995 0.75
135 [Changes in patterns of morbidity over 10 years among elderly patients with stroke who were treated in a rehabilitation unit]. Nihon Ronen Igakkai Zasshi 1997 0.75
136 Reduction of serum IgG level and peripheral T-cell counts are correlated with CTG repeat lengths in myotonic dystrophy patients. Neuromuscul Disord 1996 0.75
137 [Mitochondrial abnormalities and nervous dysfunctions]. Nihon Naika Gakkai Zasshi 1999 0.75
138 "Circular reddish lesions": a possibly characteristic endoscopic finding in Henoch-Schönlein purpura. Endoscopy 2013 0.75
139 [Muscular dystrophy]. Tanpakushitsu Kakusan Koso 1990 0.75
140 Becker-type muscular dystrophy associated with hypertrophic cardiomyopathy. Am Heart J 1994 0.75
141 [A case of progressive myopathy with tubular aggregates]. Rinsho Shinkeigaku 1989 0.75
142 [Japanese clinical statistical data of patients with progressive muscular dystrophy]. Nihon Rinsho 1992 0.75
143 [A manifesting carrier of Duchenne muscular dystrophy presenting mosaic distribution of dystrophin negative and positive muscle fibers]. Rinsho Shinkeigaku 1990 0.75
144 [Immunopathology and treatment of polymyositis and dermatomyositis]. Nihon Naika Gakkai Zasshi 1998 0.75
145 [Dystrophin deficiency in Duchenne muscular dystrophy]. Seikagaku 1989 0.75
146 [A case of polymyositis with repeated dysphagia and muscle weakness associated with peculiar findings of skin]. Rinsho Shinkeigaku 1989 0.75