| 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 |
|
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