Year |
Citation |
Score |
2019 |
Doki T, Yamashita S, Wei FY, Hara K, Yamamoto T, Zhang Z, Zhang X, Tawara N, Hino H, Uyama E, Kurashige T, Maruyama H, Tomizawa K, Ando Y. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy. Laboratory Investigation; a Journal of Technical Methods and Pathology. PMID 30894671 DOI: 10.1038/S41374-019-0243-8 |
0.314 |
|
2015 |
Ueda A, Ueda M, Nagatoshi A, Hirano T, Ito T, Arai N, Uyama E, Mori K, Nakamura M, Shinriki S, Ikeda K, Ando Y. Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014. Journal of Neurology. PMID 25980907 DOI: 10.1007/S00415-015-7782-8 |
0.381 |
|
2014 |
Nakahara K, Ueda M, Yamada K, Koide T, Yoshimochi G, Funayama M, Kim JH, Yamakawa S, Mori A, Misumi Y, Uyama E, Hattori N, Ando Y. Juvenile-onset parkinsonism with digenic parkin and PINK1 mutations treated with subthalamic nucleus stimulation at 45 years after disease onset. Journal of the Neurological Sciences. 345: 276-7. PMID 25106695 DOI: 10.1016/J.Jns.2014.07.053 |
0.334 |
|
2008 |
Funayama M, Li Y, Tsoi TH, Lam CW, Ohi T, Yazawa S, Uyama E, Djaldetti R, Melamed E, Yoshino H, Imamichi Y, Takashima H, Nishioka K, Sato K, Tomiyama H, et al. Familial Parkinsonism with digenic parkin and PINK1 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1461-5. PMID 18546294 DOI: 10.1002/Mds.22143 |
0.364 |
|
2005 |
Tajima Y, Uyama E, Go S, Sato C, Tao N, Kotani M, Hino H, Suzuki A, Sanai Y, Kitajima K, Sakuraba H. Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins. The American Journal of Pathology. 166: 1121-30. PMID 15793292 DOI: 10.1016/S0002-9440(10)62332-2 |
0.333 |
|
2004 |
Hino H, Araki K, Uyama E, Takeya M, Araki M, Yoshinobu K, Miike K, Kawazoe Y, Maeda Y, Uchino M, Yamamura K. Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy. Human Molecular Genetics. 13: 181-90. PMID 14645203 DOI: 10.1093/Hmg/Ddh017 |
0.35 |
|
2003 |
Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, ... ... Uyama E, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genetics. 35: 318-21. PMID 14595441 DOI: 10.1038/Ng1261 |
0.369 |
|
2003 |
Uyama E, Yamada K, Kawano H, Chan WM, Andrews C, Yoshioka M, Uchino M, Engle EC. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscular Disorders : Nmd. 13: 472-8. PMID 12899874 DOI: 10.1016/S0960-8966(03)00065-8 |
0.34 |
|
2003 |
Santa Y, Uyama E, Chui DH, Arima M, Kotorii S, Takahashi K, Tabira T. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. Journal of the Neurological Sciences. 212: 79-84. PMID 12810003 DOI: 10.1016/S0022-510X(03)00109-6 |
0.398 |
|
2003 |
Shimamura M, Uyama E, Hirano T, Murakami T, Mita S, Kitamoto T, Uchino M. A unique case of sporadic Creutzfeldt-Jacob disease presenting as progressive supranuclear palsy. Internal Medicine (Tokyo, Japan). 42: 195-8. PMID 12636242 DOI: 10.2169/Internalmedicine.42.195 |
0.323 |
|
2002 |
Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, Date H, Saito M, Tanaka H, Kawasaki S, Uyama E, Mizusawa H, Fukuhara N, Tsuji S. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Annals of Neurology. 52: 516-9. PMID 12325084 DOI: 10.1002/Ana.10341 |
0.518 |
|
2002 |
Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, ... ... Uyama E, et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. American Journal of Medical Genetics. 108: 16-22. PMID 11857544 DOI: 10.1002/Ajmg.10184 |
0.305 |
|
2001 |
Uchino M, Mita S, Satoh H, Hirano T, Arimura K, Nakagawa M, Nakamura M, Uyama E, Ando Y, Wakamiya J, Futatsuka M. Clinical investigation of the lesions responsible for sensory disturbance in Minamata disease. The Tohoku Journal of Experimental Medicine. 195: 181-9. PMID 11874251 DOI: 10.1620/Tjem.195.181 |
0.302 |
|
2001 |
Asaka T, Ikeuchi K, Okino S, Takizawa Y, Satake R, Nitta E, Komai K, Endo K, Higuchi S, Oyake T, Yoshimura T, Suenaga A, Uyama E, Saito T, Konagaya M, et al. Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy). Journal of Human Genetics. 46: 649-55. PMID 11721884 DOI: 10.1007/S100380170016 |
0.305 |
|
2001 |
Sasaki R, Ito N, Shimamura M, Murakami T, Kuzuhara S, Uchino M, Uyama E. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. Muscle & Nerve. 24: 357-63. PMID 11353420 DOI: 10.1002/1097-4598(200103)24:3<357::Aid-Mus1006>3.0.Co;2-E |
0.394 |
|
2001 |
Tashima K, Uyama E, Hashimoto Y, Yonehara T, Uchino M. Susac's syndrome: beneficial effects of corticosteroid therapy in a Japanese case. Internal Medicine (Tokyo, Japan). 40: 135-9. PMID 11300147 DOI: 10.2169/Internalmedicine.40.135 |
0.321 |
|
2001 |
Kotorii S, Takahashi K, Kamimura K, Nishio T, Arima K, Yamada H, Uyama E, Uchino M, Suenaga A, Matsumoto M, Kuchel G, Rouleau GA, Tabira T. Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome. Dementia and Geriatric Cognitive Disorders. 12: 185-93. PMID 11244211 DOI: 10.1159/000051256 |
0.394 |
|
2000 |
Uyama E, Tsukahara T, Goto K, Kurano Y, Ogawa M, Kim YJ, Uchino M, Arahata K. Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. Muscle & Nerve. 23: 1549-54. PMID 11003790 DOI: 10.1002/1097-4598(200010)23:10<1549::Aid-Mus11>3.0.Co;2-0 |
0.379 |
|
2000 |
Uyama E. Gaucher disease with oculomotor apraxia and cardiovascular calcification. Neurology. 55: 741-2. PMID 10982319 DOI: 10.1212/Wnl.55.5.735-G |
0.353 |
|
2000 |
Uyama E, Tokunaga M, Suenaga A, Kotorii S, Kamimura K, Takahashi K, Tabira T, Uchino M. Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. Internal Medicine (Tokyo, Japan). 39: 732-7. PMID 10969905 DOI: 10.2169/Internalmedicine.39.732 |
0.386 |
|
1999 |
Sasaki R, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E. Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia. Neuromuscular Disorders : Nmd. 9: 587-92. PMID 10619717 DOI: 10.1016/S0960-8966(99)00050-4 |
0.406 |
|
1999 |
Kamimura K, Takahashi K, Uyama E, Tokunaga M, Kotorii S, Uchino M, Tabira T. Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Alzheimer Disease and Associated Disorders. 13: 222-5. PMID 10609671 DOI: 10.1097/00002093-199910000-00008 |
0.384 |
|
1999 |
Murakami T, Oomori H, Hara A, Uyama E, Mita S, Uchino M. Atypical phenotype of charcot-marie-tooth disease type 1A. Muscle & Nerve. 22: 1593-6. PMID 10514240 DOI: 10.1002/(Sici)1097-4598(199911)22:11<1593::Aid-Mus17>3.0.Co;2-H |
0.329 |
|
1998 |
Uyama E, Uchino M, Chateau D, Tomé FM. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscular Disorders : Nmd. 8: 119-25. PMID 9608566 DOI: 10.1016/S0960-8966(98)00002-9 |
0.378 |
|
1998 |
Mita S, Tokunaga M, Uyama E, Kumamoto T, Uekawa K, Uchino M. Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers. Muscle & Nerve. 21: 490-7. PMID 9533783 DOI: 10.1002/(Sici)1097-4598(199804)21:4<490::Aid-Mus7>3.0.Co;2-4 |
0.311 |
|
1997 |
Utsumi K, Yamamoto N, Kase R, Takata T, Okumiya T, Saito H, Suzuki T, Uyama E, Sakuraba H. High incidence of thrombosis in Fabry's disease. Internal Medicine (Tokyo, Japan). 36: 327-9. PMID 9213168 DOI: 10.2169/Internalmedicine.36.327 |
0.308 |
|
1997 |
Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, Uyama E, Mizusawa H, Fukuhara N, Nonaka I, Takamori M, Tsuji S. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Annals of Neurology. 41: 432-7. PMID 9124799 DOI: 10.1002/Ana.410410405 |
0.34 |
|
1995 |
Uyama E, Kondo I, Uchino M, Fukushima T, Murayama N, Kuwano A, Inokuchi N, Ohtani Y, Ando M. Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family. Journal of the Neurological Sciences. 130: 146-53. PMID 8586978 DOI: 10.1016/0022-510X(95)00019-X |
0.357 |
|
1995 |
Uchino M, Uyama E, Kawano H, Hokamaki J, Kugiyama K, Murakami Y, Yasue H, Ando M. A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier. Acta Neuropathologica. 90: 334-8. PMID 8525810 DOI: 10.1007/Bf00296520 |
0.342 |
|
1995 |
Aono S, Adachi Y, Uyama E, Yamada Y, Keino H, Nanno T, Koiwai O, Sato H. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet. 345: 958-9. PMID 7715297 DOI: 10.1016/S0140-6736(95)90702-5 |
0.339 |
|
1995 |
Uchino M, Tokunaga M, Yamashita T, Mita S, Hara A, Uyama E, Teramoto H, Naoe H, Ando M. Polymerase chain reaction fiber analysis and somatic mosaicism in autopsied tissue from a man with Duchenne muscular dystrophy. Acta Neuropathologica. 90: 203-7. PMID 7484098 DOI: 10.1007/Bf00294322 |
0.321 |
|
1994 |
Uchino M, Miike T, Iwashita H, Uyama E, Yoshioka K, Sugino S, Ando M. PCR and immunoblot analyses of dystrophin in Becker muscular dystrophy. Journal of the Neurological Sciences. 124: 225-9. PMID 7964876 DOI: 10.1016/0022-510X(94)90331-X |
0.357 |
|
1993 |
Uchino M, Uyama E, Hirano T, Nakamura T, Fukushima T, Ando M. A histochemical and electron microscopic study of skeletal muscle in an adult case of Chédiak-Higashi syndrome. Acta Neuropathologica. 86: 521-4. PMID 8310803 DOI: 10.1007/Bf00228590 |
0.315 |
|
1992 |
Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K. GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients. Annals of Neurology. 31: 328-32. PMID 1353343 DOI: 10.1002/Ana.410310316 |
0.383 |
|
1992 |
Uyama E, Terasaki T, Watanabe S, Naito M, Owada M, Araki S, Ando M. Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Acta Neurologica Scandinavica. 86: 609-15. PMID 1336295 DOI: 10.1111/J.1600-0404.1992.Tb05497.X |
0.32 |
|
1992 |
Uyama E, Takahashi K, Owada M, Okamura R, Naito M, Tsuji S, Kawasaki S, Araki S. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. Acta Neurologica Scandinavica. 86: 407-20. PMID 1333717 DOI: 10.1111/J.1600-0404.1992.Tb05109.X |
0.323 |
|
Low-probability matches (unlikely to be authored by this person) |
2000 |
Murakami T, Nakajima M, Nakamura T, Hara A, Uyama E, Mita S, Matsushita S, Uchino M. Parkinsonian symptoms as an initial manifestation in a Japanese patient with acquired immunodeficiency syndrome and Toxoplasma infection. Internal Medicine (Tokyo, Japan). 39: 1111-4. PMID 11197803 DOI: 10.2169/Internalmedicine.39.1111 |
0.296 |
|
1999 |
Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptácek LJ. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology. 53: 1180-3. PMID 10522869 DOI: 10.1212/Wnl.53.6.1180 |
0.293 |
|
2008 |
Uyama E. [Fabry disease in light of recent review]. Brain and Nerve = Shinkei Kenkyå« No Shinpo. 60: 1235-44. PMID 19069157 |
0.293 |
|
1995 |
Uchino M, Tokunaga M, Mita S, Uyama E, Ando Y, Teramoto H, Miike T, Ando M. PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy. Journal of the Neurological Sciences. 129: 44-50. PMID 7751844 DOI: 10.1016/0022-510X(94)00245-J |
0.291 |
|
1989 |
Ueyama H, Hashimoto Y, Uchino M, Sasaki Y, Uyama E, Okajima K, Araki S. Progressing ischemic stroke in a homozygote with variant antithrombin III. Stroke; a Journal of Cerebral Circulation. 20: 815-8. PMID 2658206 DOI: 10.1161/01.Str.20.6.815 |
0.29 |
|
1994 |
Fukushima T, Ikeda T, Uyama E, Uchino M, Okabe H, Ando M. Cognitive event-related potentials and brain magnetic resonance imaging in HTLV-1 associated myelopathy (HAM). Journal of the Neurological Sciences. 126: 30-9. PMID 7836944 DOI: 10.1016/0022-510X(94)90091-4 |
0.289 |
|
1998 |
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tomé FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genetics. 18: 164-7. PMID 9462747 DOI: 10.1038/Ng0298-164 |
0.281 |
|
1997 |
Sakuraba H, Itoh K, Kuroki Y, Kase R, Shimmoto M, Utsumi K, Ozawa H, Tai T, Hara A, Uyama E. Immunocytochemical detection of accumulated substrates in cultured fibroblasts from patients with the infantile and adult forms of Sandhoff disease. Clinica Chimica Acta; International Journal of Clinical Chemistry. 265: 263-6. PMID 9385467 DOI: 10.1016/S0009-8981(97)00143-5 |
0.279 |
|
2002 |
Bao YP, Cook LJ, O'Donovan D, Uyama E, Rubinsztein DC. Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy. The Journal of Biological Chemistry. 277: 12263-9. PMID 11796717 DOI: 10.1074/Jbc.M109633200 |
0.278 |
|
2000 |
Takahashi T, Tateyama M, Aoki M, Shiga Y, Uyama E, Itoyama Y. [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]. Rinshå Shinkeigaku = Clinical Neurology. 40: 911-4. PMID 11257788 |
0.276 |
|
1995 |
Ando Y, Kai S, Uyama E, Iyonaga K, Hashimoto Y, Uchino M, Ando M. Involvement of the central nervous system in rheumatoid arthritis: its clinical manifestations and analysis by magnetic resonance imaging. Internal Medicine (Tokyo, Japan). 34: 188-91. PMID 7787325 DOI: 10.2169/Internalmedicine.34.188 |
0.272 |
|
1998 |
Hirano T, Uyama E, Tashima K, Mita S, Uchino M. An atypical case of adult Moyamoya disease with initial onset of brain stem ischemia. Journal of the Neurological Sciences. 157: 100-4. PMID 9600684 DOI: 10.1016/S0022-510X(98)00057-4 |
0.271 |
|
2005 |
Ohmori H, Hirashima K, Ishihara D, Maeda Y, Hirano T, Uyama E, Uchino M. Two cases of hemiballism-hemichorea with T1-weighted MR image hyperintensities. Internal Medicine (Tokyo, Japan). 44: 1280-5. PMID 16415550 DOI: 10.2169/Internalmedicine.44.1280 |
0.271 |
|
1993 |
Mita S, Sugimoto M, Nakamura M, Murakami T, Tokunaga M, Uyama E, Araki S. 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. The American Journal of Tropical Medicine and Hygiene. 48: 170-7. PMID 8447519 DOI: 10.4269/Ajtmh.1993.48.170 |
0.268 |
|
2002 |
Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Human Mutation. 19: 458-9. PMID 11933202 DOI: 10.1002/humu.9024 |
0.267 |
|
2004 |
Yamashita S, Maeda Y, Ohmori H, Uchida Y, Hirano T, Yonemura K, Uyama E, Uchino M. Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene. Journal of the Neurological Sciences. 225: 129-33. PMID 15465096 DOI: 10.1016/j.jns.2004.07.012 |
0.266 |
|
2002 |
Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Lin H, Ohno K, Tanaka A, Yamada H, Uyama E. Molecular and structural studies of the GM2 gangliosidosis 0 variant. Journal of Human Genetics. 47: 176-83. PMID 12166653 DOI: 10.1007/S100380200020 |
0.265 |
|
2000 |
Uchino M, Uyama E, Maeda Y, Hirano T, Suenaga A, Yamada H, Hashimoto Y, Kotorii S, Takahashi K, Tabira T. [CADASIL: clinical analysis of CADASIL and CADASIL-like disorders in Japan]. Rinshå Shinkeigaku = Clinical Neurology. 40: 1247-50. PMID 11464469 |
0.265 |
|
1990 |
Uyama E, Araki S, Kawasaki S, Okamura R, Ōwada M. [Three adult siblings of Gaucher's disease with corneal opacities, deafness, valvular heart disease, deformed toes, communicating hydrocephalus and leptomeningeal thickening]. Rinshō Shinkeigaku Clinical Neurology. 27: 41-42. DOI: 10.1007/978-3-662-11152-9_27 |
0.262 |
|
1994 |
Uchino M, Yoshioka K, Miike T, Tokunaga M, Uyama E, Teramoto H, Naoe H, Ando M. Dystrophin and dystrophin-related protein in the brains of normal and mdx mice. Muscle & Nerve. 17: 533-8. PMID 8159184 DOI: 10.1002/Mus.880170511 |
0.261 |
|
1996 |
Uyama E, Uchino M, Ando M. Comments on "type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl". Journal of Neurology. 243: 295-7. PMID 8936363 DOI: 10.1007/Bf00868530 |
0.251 |
|
1995 |
Uyama E, Uchino M, Ando M. Balint's syndrome. Neurology. 45: 2118-9. PMID 7501184 DOI: 10.1212/Wnl.45.5.1030-A |
0.248 |
|
2016 |
Doki T, Yamashita S, Zhang Z, Zhang X, Tawara N, Maeda Y, Hino H, Uyama E, Araki K, Ando Y. Mitochondrial dysfunction in the pathogenesis of oculopharyngeal muscular dystrophy Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.198 |
0.246 |
|
1996 |
Uyama E, Nohira O, Chateau D, Tokunaga M, Uchino M, Okabe T, Ando M, Tome FM. Oculopharyngeal muscular dystrophy in two unrelated Japanese families. Neurology. 46: 773-8. PMID 8618681 |
0.244 |
|
1997 |
Uyama E, Nohira O, Tomé FM, Chateau D, Tokunaga M, Ando M, Maki M, Okabe T, Uchino M. Oculopharyngeal muscular dystrophy in Japan. Neuromuscular Disorders : Nmd. 7: S41-9. PMID 9392015 DOI: 10.1016/S0960-8966(97)00081-3 |
0.242 |
|
2006 |
Wada Y, Kuwahara T, Uyama E, Nakanishi J, Takahashi W, Honda J, Kikukawa H, Jinnouchi Y, Ueda S. Neurologic toxicity associated with interferon alpha therapy for renal cell carcinoma. International Journal of Urology : Official Journal of the Japanese Urological Association. 13: 811-3. PMID 16834668 DOI: 10.1111/J.1442-2042.2006.01410.X |
0.241 |
|
2002 |
Uchino M, Hirano T, Uyama E, Hashimoto Y. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan. Annals of the New York Academy of Sciences. 977: 273-8. PMID 12480761 |
0.238 |
|
1989 |
Sugimoto M, Nakashima H, Matsumoto M, Uyama E, Ando M, Araki S. Pulmonary involvement in patients with HTLV-I-associated myelopathy: increased soluble IL-2 receptors in bronchoalveolar lavage fluid. The American Review of Respiratory Disease. 139: 1329-35. PMID 2786358 DOI: 10.1164/Ajrccm/139.6.1329 |
0.237 |
|
2017 |
Doki T, Yamashita S, Wei FY, Zhang X, Zhang Z, Tawara N, Hino H, Uyama E, Araki K, Ando Y. Polyalanine expansion in PABPN1 causes mitochondrial dysfunction Journal of the Neurological Sciences. 381: 273. DOI: 10.1016/J.Jns.2017.08.778 |
0.234 |
|
2017 |
Doki T, Yamashita S, Wei F, Zhang X, Zhang Z, Tawara N, Hino H, Uyama E, Aaki K, Tomizawa K, Ando Y. P.355 - Mitochondrial dysfunction in oculopharyngeal muscular dystrophy Neuromuscular Disorders. 27. DOI: 10.1016/J.Nmd.2017.06.395 |
0.231 |
|
2007 |
Okamoto S, Hirano T, Takahashi Y, Yamashita T, Uyama E, Uchino M. Paraneoplastic limbic encephalitis caused by ovarian teratoma with autoantibodies to glutamate receptor. Internal Medicine (Tokyo, Japan). 46: 1019-22. PMID 17603244 DOI: 10.2169/Internalmedicine.46.6466 |
0.23 |
|
1995 |
Fukushima T, Uyama E, Uchino M, Okabe H, Kondo I, Ohigashi Y. PS-46-14 Cognitive event-related potentials in patients with Dentatorubro-Pallidoluysian Atrophy (DRPLA) Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control. 97: S207. DOI: 10.1016/0924-980X(95)93206-9 |
0.23 |
|
2009 |
Ueda A, Hirano T, Takahashi K, Kurisaki R, Hino H, Uyama E, Uchino M. Detection of granular osmiophilic material of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by light microscopy in frozen sections. Neuropathology and Applied Neurobiology. 35: 618-22. PMID 19422530 DOI: 10.1111/J.1365-2990.2009.01029.X |
0.228 |
|
1998 |
Hara A, Uyama E, Uchino M, Shimmoto M, Utsumi K, Itoh K, Kase R, Naito M, Sugiyama E, Taketomi T, Sukegawa K, Sakuraba H. Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case. Journal of the Neurological Sciences. 155: 86-91. PMID 9562328 DOI: 10.1016/S0022-510X(97)00299-2 |
0.227 |
|
2015 |
Doki T, Yamashita S, Nishikami T, Nakajou Y, Matsuo Y, Tawara N, Maeda Y, Hino H, Uyama E, Araki K, Ando Y. Phenotype analysis of transgenic mice expressing mutant PABPN1 Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.115 |
0.225 |
|
2001 |
Uyama E. [Oculopharyngeal muscular dystrophy(OPMD)/oculopharyngeal myopathy]. RyåIkibetsu ShåKåGun Shirä«Zu. 46-9. PMID 11555985 |
0.223 |
|
1990 |
Tokunaga M, Uyama E, Tooya M, Kumamoto T, Araki S. [Oculopharyngeal muscular dystrophy in a Japanese family]. Rinshå Shinkeigaku = Clinical Neurology. 30: 29-36. PMID 2184963 |
0.212 |
|
2001 |
Uchino M, Uyama E. [Oculopharyngodistal myopathy]. RyåIkibetsu ShåKåGun Shirä«Zu. 457-61. PMID 11596437 |
0.208 |
|
2002 |
Nishida Y, Maeda Y, Hara A, Arima T, Kimura E, Yamashita S, Uyama E, Mita S, Uchino M. Adenovirus-mediated murine interferon-gamma receptor transfer enhances the efficacy of IFN-gamma in vivo. Biochemical and Biophysical Research Communications. 290: 1042-7. PMID 11798180 DOI: 10.1006/Bbrc.2001.6298 |
0.204 |
|
1999 |
Uyama E, Uchino M, Tabira T. [Identification of Notch 3 mutation in the first Japanese CADASIL family]. Rinshå Shinkeigaku = Clinical Neurology. 39: 53. PMID 10377801 |
0.2 |
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1987 |
Sugimoto M, Nakashima H, Watanabe S, Uyama E, Tanaka F, Ando M, Araki S, Kawasaki S. T-lymphocyte alveolitis in HTLV-I-associated myelopathy. Lancet. 2: 1220. PMID 2890850 DOI: 10.1016/S0140-6736(87)91362-6 |
0.2 |
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2005 |
Uyama E, Hino H, Araki K, Takeya M, Uchino M, Yamamura K. Animal model of oculopharyngeal muscular dystrophy. Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology / Edited by the Gaetano Conte Academy For the Study of Striated Muscle Diseases. 24: 84-8. PMID 16550922 |
0.198 |
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1991 |
Uyama E, Miyajima M, Sugimoto M, Kawasaki S, Ikeda T, Araki S. [A case of HTLV-1 associated myelopathy progressed in course over 30 years]. Rinshå Shinkeigaku = Clinical Neurology. 31: 301-5. PMID 1893670 |
0.194 |
|
1990 |
Uyama E, Terasaki T, Owada M, Naito M, Araki S. [Three siblings with type 3 GM1-gangliosidosis--pathophysiology of dystonia and MRI findings]. Rinshå Shinkeigaku = Clinical Neurology. 30: 819-27. PMID 2123760 |
0.194 |
|
2021 |
Nakajima M, Uyama E, Suga T, Honda S, Ando Y. Deep venous thrombosis in patients with neurological diseases: A multicenter, prospective study. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 91: 214-218. PMID 34373030 DOI: 10.1016/j.jocn.2021.07.007 |
0.188 |
|
1997 |
Goto S, Kunitoku N, Soyama N, Yamada K, Okamura A, Yoshikawa M, Hirata Y, Uyama E, Ushio Y. Posteroventral pallidotomy in a patient with parkinsonism caused by hypoxic encephalopathy. Neurology. 49: 707-10. PMID 9305327 |
0.186 |
|
1998 |
Tashima K, Uyama E, Uchino M, Ando Y. [Hereditary amyloidosis]. RyåIkibetsu ShåKåGun Shirä«Zu. 636-9. PMID 9645153 |
0.186 |
|
1996 |
Uchino M, Hara A, Mizuno Y, Fujiki M, Nakamura T, Tokunaga M, Hirano T, Yamashita T, Uyama E, Ando Y, Mita S, Ando M. Distribution of dystrophin and dystrophin-associated protein 43DAG (beta-dystroglycan) in the central nervous system of normal controls and patients with Duchenne muscular dystrophy. Internal Medicine (Tokyo, Japan). 35: 189-94. PMID 8785451 |
0.181 |
|
1994 |
Uyama E, Hirano T, Ito K, Nakashima H, Sugimoto M, Naito M, Uchino M, Ando M. Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurologica Scandinavica. 89: 175-83. PMID 8030398 |
0.179 |
|
2001 |
Kimura E, Maeda Y, Arima T, Nishida Y, Yamashita S, Hara A, Uyama E, Mita S, Uchino M. Efficient repetitive gene delivery to skeletal muscle using recombinant adenovirus vector containing the Coxsackievirus and adenovirus receptor cDNA. Gene Therapy. 8: 20-7. PMID 11402298 DOI: 10.1038/sj.gt.3301359 |
0.175 |
|
1996 |
Kuwano A, Takakubo F, Morimoto Y, Uyama E, Uchino M, Ando M, Yasuda T, Terao A, Hayama T, Kobayashi R, Kondo I. Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. Journal of Medical Genetics. 33: 80-1. PMID 8825056 |
0.17 |
|
2000 |
Nakamizo A, Koga H, Uyama E, Yamabe K. [A case of symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)]. Fukuoka Igaku Zasshi = Hukuoka Acta Medica. 91: 239-42. PMID 11080925 |
0.168 |
|
1991 |
Uyama E, Hirano T, Yoshida A, Doi O, Maruoka S, Araki S. [An adult case of Chédiak-Higashi syndrome with parkinsonism and marked atrophy of the central nervous system]. Rinshå Shinkeigaku = Clinical Neurology. 31: 24-31. PMID 2044302 |
0.167 |
|
1995 |
Uyama E, Ueno N, Uchino M, Narahara T, Owada M, Taketomi T, Ando M. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. Headache. 35: 498-501. PMID 7591747 DOI: 10.1111/j.1526-4610.1995.hed3508498.x |
0.163 |
|
2005 |
Uchida Y, Maeda Y, Kimura E, Yamashita S, Nishida Y, Arima T, Hirano T, Uyama E, Mita S, Uchino M. Effective repetitive dystrophin gene transfer into skeletal muscle of adult mdx mice using a helper-dependent adenovirus vector expressing the coxsackievirus and adenovirus receptor (CAR) and dystrophin. The Journal of Gene Medicine. 7: 1010-22. PMID 15756716 DOI: 10.1002/jgm.745 |
0.163 |
|
1993 |
Uyama E, Kutsukake Y, Hara A, Uemura K, Uchino M, Mita S, Ando M, Taketomi T. Abnormal excretion of urinary phospholipids and sulfatide in patients with mitochondrial encephalomyopathies. Biochemical and Biophysical Research Communications. 194: 266-73. PMID 8333841 DOI: 10.1006/bbrc.1993.1814 |
0.16 |
|
1993 |
Uyama E, Iwagoe H, Maeda J, Nakamura M, Terasaki T, Ando M. Presenile-onset cerebral adrenoleukodystrophy presenting as Balint's syndrome and dementia. Neurology. 43: 1249-51. PMID 8170577 |
0.156 |
|
1989 |
Hashimoto Y, Uyama E, Ikeda T, Ueyama H, Araki S. [Rendu-Osler-Weber syndrome presented paramedian thalamic and midbrain infarcts and primary medullary hemorrhage: a case report]. Rinshå Shinkeigaku = Clinical Neurology. 29: 475-82. PMID 2692933 |
0.155 |
|
1989 |
Hashimoto Y, Eto K, Uyama E, Uchino M, Araki S. [Blue-rubber-bleb-nevus syndrome presented vascular dementia and chronic DIC--a case report]. Rinshå Shinkeigaku = Clinical Neurology. 29: 202-8. PMID 2752649 |
0.155 |
|
1989 |
Uyama E, Maeda J, Adachi K, Yu TC, Araki S. [An adult case of congenital Horner's syndrome with heterochromia iridis--with special reference to alteration of Horner's sign associated with development]. Rinshå Shinkeigaku = Clinical Neurology. 29: 1278-82. PMID 2691167 |
0.151 |
|
1995 |
Uyama E, Uchino M, Ando M, Chateau D, Tomé FM. [Oculopharyngeal muscular dystrophy specific intranuclear tubulofilamentous inclusions]. Rinshå Shinkeigaku = Clinical Neurology. 35: 817-8. PMID 8777812 |
0.148 |
|
2000 |
Tokunaga M, Uyama E, Goto A, Ogi K, Uchino M. [A case of pericarotid syndrome with retention cyst in ethmoid sinus]. Rinshå Shinkeigaku = Clinical Neurology. 40: 39-43. PMID 10825799 |
0.142 |
|
1989 |
Hashimoto Y, Watanabe S, Tanaka F, Uyama E, Araki S. [A case of medullary infarction presented lateral medullary syndrome and respiratory arrest after ataxic respiration]. Rinshå Shinkeigaku = Clinical Neurology. 29: 1017-22. PMID 2689032 |
0.138 |
|
1992 |
Uyama E. [Some questions and comments for the original article entitled "autosomal recessive oculopharyngeal 'muscular dystrophy'"]. Rinshå Shinkeigaku = Clinical Neurology. 32: 94-5. PMID 1628446 |
0.137 |
|
1989 |
Uyama E, Katahira T, Okada H, Hashimoto Y, Araki S. [Palilalia associated with progressive supranuclear palsy]. Rinshå Shinkeigaku = Clinical Neurology. 29: 617-21. PMID 2676308 |
0.137 |
|
2017 |
Nakajima M, Watari M, Uyama E, Honda S, Suga T, Ando Y. Deep venous thrombosis in patients with neuromuscular disorders: A multicenter, prospective study Journal of the Neurological Sciences. 381: 822. DOI: 10.1016/j.jns.2017.08.2313 |
0.13 |
|
1989 |
Uyama E, Kumamoto T, Kimura Y, Yi S, Araki S. [A case of malignant rheumatoid arthritis with severe peripheral neuropathy]. Rinshå Shinkeigaku = Clinical Neurology. 29: 758-63. PMID 2582690 |
0.128 |
|
2002 |
Nakajima M, Hirano T, Sasamoto N, Uyama E, Mita S, Uchino M. [A case of spontaneous intracranial hypotension without any history of positional headache]. Nå to Shinkei = Brain and Nerve. 54: 991-5. PMID 12512125 |
0.124 |
|
2006 |
Misumi Y, Hirano T, Matsumoto N, Yamashita T, Uyama E, Uchino M. [Seizure-induced transient brain edema in the medial temporal lobe]. Rinshå Shinkeigaku = Clinical Neurology. 46: 214-7. PMID 16642933 |
0.122 |
|
1997 |
Uyama E, Uchino M, Ida H, Eto Y, Owada M. D409H/D409H genotype in Gaucher-like disease. Journal of Medical Genetics. 34: 175. PMID 9040001 |
0.122 |
|
1987 |
Nishiguchi S, Uyama E, Kumamoto T, Uchino M, Araki S. [A case report of Behçet's disease with intracranial hypertension due to superior sagittal sinus thrombophlebitis]. Rinshå Shinkeigaku = Clinical Neurology. 27: 856-8. PMID 3665275 |
0.121 |
|
1987 |
Uyama E, Araki S, Kawasaki S, Okamura R, Owada M. [Three adult siblings of Gaucher's disease with corneal opacities, deafness, valvular heart disease, deformed toes, communicating hydrocephalus and leptomeningeal thickening]. Rinshå Shinkeigaku = Clinical Neurology. 27: 1248-55. PMID 3440345 |
0.12 |
|
2002 |
Utsumi K, Tsuji A, Kase R, Tanaka A, Tanaka T, Uyama E, Ozawa T, Sakuraba H, Komaba Y, Kawabe M, Iino Y, Katayama Y. Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis. Acta Neurologica Scandinavica. 105: 427-30. PMID 12027830 DOI: 10.1034/j.1600-0404.2002.01097.x |
0.12 |
|
1994 |
Uchino M, Ando Y, Tanaka Y, Nakamura T, Uyama E, Mita S, Murakami T, Ando M. Decrease in Cu/Zn- and Mn-superoxide dismutase activities in brain and spinal cord of patients with amyotrophic lateral sclerosis. Journal of the Neurological Sciences. 127: 61-7. PMID 7699393 DOI: 10.1016/0022-510X(94)90136-8 |
0.118 |
|
1988 |
Miyazaki A, Uyama E, Kohrogi H, Ando M, Araki S. [A case of central alveolar hypoventilation syndrome with a localized brain stem lesion identified by magnetic resonance imaging (MRI)]. Rinshå Shinkeigaku = Clinical Neurology. 28: 512-6. PMID 3214986 |
0.114 |
|
1995 |
Bosma P, Roy Chowdhury J, Jansen PM, Sato H, Adachi Y, Aono S, Uyama E, Nanno T, Keino H, Yamada Y, Koiwai O. Genetic inheritance of Gilbert's syndrome The Lancet. 346: 314-315. PMID 7630272 DOI: 10.1016/S0140-6736(95)92203-2 |
0.114 |
|
2002 |
Kuramoto S, Hirano T, Uyama E, Tokisato K, Miura M, Watanabe S, Uchino M. [A case of slowly progressive aphasia accompanied with auditory agnosia]. Rinshå Shinkeigaku = Clinical Neurology. 42: 299-303. PMID 12561084 |
0.111 |
|
1990 |
Matsumoto M, Sugimoto M, Nakashima H, Imamura F, Kawano O, Uyama E, Takatsu K, Araki S. Spontaneous T cell proliferation and release of soluble interleukin-2 receptors in patients with HTLV-I-associated myelopathy. The American Journal of Tropical Medicine and Hygiene. 42: 365-73. PMID 2331045 |
0.095 |
|
2005 |
Uyama E, Fu YH, Ptácek LJ. Familial adult myoclonic epilepsy (FAME). Advances in Neurology. 95: 281-8. PMID 15508931 |
0.095 |
|
2001 |
Uyama E. [Scapuloperoneal syndrome]. RyåIkibetsu ShåKåGun Shirä«Zu. 462-6. PMID 11596438 |
0.085 |
|
2001 |
Watanabe M, Yamashita T, Hara A, Murakami T, Ando Y, Uyama E, Mita S, Uchino M. High signal in the spinal cord on T2-weighted images in rapidly progressive tropical spastic paraparesis. Neuroradiology. 43: 231-3. PMID 11305756 DOI: 10.1007/s002340000449 |
0.083 |
|
1988 |
Uyama E, Teramoto H, Hashimoto Y, Okamoto H, Araki S. [Two siblings of familial spastic paraplegia with cutis verticis gyrata and mental retardation]. Rinshå Shinkeigaku = Clinical Neurology. 28: 97-101. PMID 3383517 |
0.083 |
|
1995 |
Uyama E, Hirano A, Llena JF. NEUROPATHOLOGY OF FAMILIAL ALS IN LIGHT OF A TRANSGENIC MOUSE MODEL Journal of Neuropathology and Experimental Neurology. 54: 442. DOI: 10.1097/00005072-199505000-00142 |
0.077 |
|
1988 |
Shinbori T, Uyama E, Eto K, Kohrogi H, Araki S. [An autopsy case of malignant melanoma possibly originating in the sphenoid sinus]. Rinshå Shinkeigaku = Clinical Neurology. 28: 636-42. PMID 3233835 |
0.07 |
|
2004 |
Bao YP, Sarkar S, Uyama E, Rubinsztein DC. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. Journal of Medical Genetics. 41: 47-51. PMID 14729833 |
0.067 |
|
1988 |
Uyama E, Araki S, Uekawa K, Shimazu K, Fukushima K. [A case of infectious mononucleosis with meningoencephalitis which improved distinctly after the corticosteroid therapy]. Rinshå Shinkeigaku = Clinical Neurology. 28: 558-62. PMID 3214991 |
0.055 |
|
1987 |
Sonoda E, Uyama E, Uchino M, Araki S, Koga K. [A case of intramedullary spinal cord hematoma with subacute transverse myelopathy which proved the usefulness of MRI]. Rinshå Shinkeigaku = Clinical Neurology. 27: 1266-9. PMID 3440348 |
0.053 |
|
1987 |
Nakagawa T, Uyama E, Kumamoto T, Uchino M, Araki S. [A case of pure akinesia with pheochromocytoma]. Rinshå Shinkeigaku = Clinical Neurology. 27: 1150-3. PMID 3440360 |
0.052 |
|
2013 |
Uyama E, Inui S, Hamada K, Honda E, Asaoka K. Magnetic susceptibility and hardness of Au-xPt-yNb alloys for biomedical applications. Acta Biomaterialia. 9: 8449-53. PMID 23747327 DOI: 10.1016/j.actbio.2013.05.028 |
0.032 |
|
1996 |
Uyama E, Fujiki N, Uchino M. Exacerbation of myasthenia gravis during interferon-alpha treatment. Journal of the Neurological Sciences. 144: 221-2. PMID 8994129 DOI: 10.1016/S0022-510X(96)00235-3 |
0.025 |
|
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