PubRank

E Uyama

Author PubWeight™ 42.61‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998 3.62
2 Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995 2.01
3 T-lymphocyte alveolitis in HTLV-I-associated myelopathy. Lancet 1987 1.77
4 Parkinsonian symptoms as an initial manifestation in a Japanese patient with acquired immunodeficiency syndrome and Toxoplasma infection. Intern Med 2000 1.44
5 Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 1999 1.16
6 Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997 1.07
7 Pulmonary involvement in patients with HTLV-I-associated myelopathy: increased soluble IL-2 receptors in bronchoalveolar lavage fluid. Am Rev Respir Dis 1989 1.05
8 D409H/D409H genotype in Gaucher-like disease. J Med Genet 1997 0.95
9 PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy. J Neurol Sci 1995 0.93
10 Spontaneous T cell proliferation and release of soluble interleukin-2 receptors in patients with HTLV-I-associated myelopathy. Am J Trop Med Hyg 1990 0.93
11 Increased human T lymphotropic virus type-1 (HTLV-1) proviral DNA in peripheral blood mononuclear cells and bronchoalveolar lavage cells from Japanese patients with HTLV-1-associated myelopathy. Am J Trop Med Hyg 1993 0.87
12 [Blue-rubber-bleb-nevus syndrome presented vascular dementia and chronic DIC--a case report]. Rinsho Shinkeigaku 1989 0.87
13 Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. J Med Genet 2004 0.86
14 Efficient repetitive gene delivery to skeletal muscle using recombinant adenovirus vector containing the Coxsackievirus and adenovirus receptor cDNA. Gene Ther 2001 0.86
15 GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. Ann Neurol 1992 0.85
16 [An autopsy case of malignant melanoma possibly originating in the sphenoid sinus]. Rinsho Shinkeigaku 1988 0.85
17 Involvement of the central nervous system in rheumatoid arthritis: its clinical manifestations and analysis by magnetic resonance imaging. Intern Med 1995 0.83
18 A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier. Acta Neuropathol 1995 0.83
19 A histochemical and electron microscopic study of skeletal muscle in an adult case of Chédiak-Higashi syndrome. Acta Neuropathol 1993 0.83
20 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan. Ann N Y Acad Sci 2002 0.83
21 High incidence of thrombosis in Fabry's disease. Intern Med 1997 0.82
22 Dystrophin and dystrophin-related protein in the brains of normal and mdx mice. Muscle Nerve 1994 0.82
23 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Hum Mutat 2002 0.81
24 Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case. J Neurol Sci 1998 0.81
25 Decrease in Cu/Zn- and Mn-superoxide dismutase activities in brain and spinal cord of patients with amyotrophic lateral sclerosis. J Neurol Sci 1994 0.81
26 Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy. Acta Neuropathol 1995 0.80
27 Distribution of dystrophin and dystrophin-associated protein 43DAG (beta-dystroglycan) in the central nervous system of normal controls and patients with Duchenne muscular dystrophy. Intern Med 1996 0.80
28 Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Dement Geriatr Cogn Disord 2001 0.80
29 Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. Muscle Nerve 1998 0.80
30 Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia. Neuromuscul Disord 1999 0.79
31 Gaucher disease with oculomotor apraxia and cardiovascular calcification. Neurology 2000 0.79
32 Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. J Med Genet 1996 0.79
33 Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy). J Hum Genet 2001 0.78
34 Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis. Acta Neurol Scand 2002 0.78
35 Cognitive event-related potentials and brain magnetic resonance imaging in HTLV-1 associated myelopathy (HAM). J Neurol Sci 1994 0.78
36 [CADASIL: clinical analysis of CADASIL and CADASIL-like disorders in Japan]. Rinsho Shinkeigaku 2000 0.77
37 PCR and immunoblot analyses of dystrophin in Becker muscular dystrophy. J Neurol Sci 1994 0.77
38 Detection of granular osmiophilic material of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by light microscopy in frozen sections. Neuropathol Appl Neurobiol 2009 0.77
39 Clinical investigation of the lesions responsible for sensory disturbance in Minamata disease. Tohoku J Exp Med 2001 0.77
40 Exacerbation of myasthenia gravis during interferon-alpha treatment. J Neurol Sci 1996 0.77
41 Posteroventral pallidotomy in a patient with parkinsonism caused by hypoxic encephalopathy. Neurology 1997 0.77
42 Susac's syndrome: beneficial effects of corticosteroid therapy in a Japanese case. Intern Med 2001 0.76
43 Progressing ischemic stroke in a homozygote with variant antithrombin III. Stroke 1989 0.76
44 Comments on "type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl". J Neurol 1996 0.75
45 Balint's syndrome. Neurology 1995 0.75
46 [Some questions and comments for the original article entitled "autosomal recessive oculopharyngeal 'muscular dystrophy'"]. Rinsho Shinkeigaku 1992 0.75
47 Immunocytochemical detection of accumulated substrates in cultured fibroblasts from patients with the infantile and adult forms of Sandhoff disease. Clin Chim Acta 1997 0.75
48 [Oculopharyngeal muscular dystrophy specific intranuclear tubulofilamentous inclusions]. Rinsho Shinkeigaku 1995 0.75
49 [Palilalia associated with progressive supranuclear palsy]. Rinsho Shinkeigaku 1989 0.75
50 [Oculopharyngodistal myopathy]. Ryoikibetsu Shokogun Shirizu 2001 0.75
51 Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Alzheimer Dis Assoc Disord 2000 0.75
52 [Oculopharyngeal muscular dystrophy in a Japanese family]. Rinsho Shinkeigaku 1990 0.75
53 [A case of infectious mononucleosis with meningoencephalitis which improved distinctly after the corticosteroid therapy]. Rinsho Shinkeigaku 1988 0.75
54 [Identification of Notch 3 mutation in the first Japanese CADASIL family]. Rinsho Shinkeigaku 1999 0.75
55 [A family with oculopharyngeal muscular dystrophy with (GCG)9 expansion in which a sister had neck as well as proximal and her brother proximal lower limb muscle weakness]. Rinsho Shinkeigaku 2000 0.75
56 [Three adult siblings of Gaucher's disease with corneal opacities, deafness, valvular heart disease, deformed toes, communicating hydrocephalus and leptomeningeal thickening]. Rinsho Shinkeigaku 1987 0.75
57 [A case of medullary infarction presented lateral medullary syndrome and respiratory arrest after ataxic respiration]. Rinsho Shinkeigaku 1989 0.75
58 High signal in the spinal cord on T2-weighted images in rapidly progressive tropical spastic paraparesis. Neuroradiology 2001 0.75
59 [A case of symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. Fukuoka Igaku Zasshi 2000 0.75
60 [An adult case of congenital Horner's syndrome with heterochromia iridis--with special reference to alteration of Horner's sign associated with development]. Rinsho Shinkeigaku 1989 0.75
61 [A case of pericarotid syndrome with retention cyst in ethmoid sinus]. Rinsho Shinkeigaku 2000 0.75
62 [A case of central alveolar hypoventilation syndrome with a localized brain stem lesion identified by magnetic resonance imaging (MRI)]. Rinsho Shinkeigaku 1988 0.75
63 [Two siblings of familial spastic paraplegia with cutis verticis gyrata and mental retardation]. Rinsho Shinkeigaku 1988 0.75
64 [Rendu-Osler-Weber syndrome presented paramedian thalamic and midbrain infarcts and primary medullary hemorrhage: a case report]. Rinsho Shinkeigaku 1989 0.75
65 An atypical case of adult Moyamoya disease with initial onset of brain stem ischemia. J Neurol Sci 1998 0.75
66 Atypical phenotype of charcot-marie-tooth disease type 1A. Muscle Nerve 1999 0.75
67 [Hereditary amyloidosis]. Ryoikibetsu Shokogun Shirizu 1998 0.75
68 [A case of pure akinesia with pheochromocytoma]. Rinsho Shinkeigaku 1987 0.75
69 [A case of intramedullary spinal cord hematoma with subacute transverse myelopathy which proved the usefulness of MRI]. Rinsho Shinkeigaku 1987 0.75
70 A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. Muscle Nerve 2001 0.75
71 [A case of malignant rheumatoid arthritis with severe peripheral neuropathy]. Rinsho Shinkeigaku 1989 0.75
72 [A case report of Behçet's disease with intracranial hypertension due to superior sagittal sinus thrombophlebitis]. Rinsho Shinkeigaku 1987 0.75