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La ricerca find articoli where authors phrase all words ' Uyama, E' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 56 riferimenti
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    1. 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; Sunohara, N; Namba, R; Takada, H; Honke, K; Nishina, M; Tanaka, H; Shinagawa, M; Tanaka, K; Matsushima, A; Tsuji, S; Takamori, M
      Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)

      JOURNAL OF HUMAN GENETICS
    2. 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
    3. 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
    4. Tashima, K; Uyama, E; Hashimoto, Y; Yonehara, T; Uchino, M
      Susac's syndrome: Beneficial effects of corticosteroid therapy in a Japanese case

      INTERNAL MEDICINE
    5. 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 myotoniacongenita

      MUSCLE & NERVE
    6. Watanabe, M; Yamashita, T; Hara, A; Murakami, T; Ando, Y; Uyama, E; Mita, S
      High signal in the spinal cord on T2-weighted images in rapidly progressive tropical spastic paraparesis

      NEURORADIOLOGY
    7. 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
    8. 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
    9. 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
    10. Uyama, E
      Gaucher disease with oculomotor apraxia and cardiovascular calcification

      NEUROLOGY
    11. 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
    12. Kamimura, K; Takahashi, K; Uyama, E; Tokunaga, M; Kotorii, S; Uchino, M; Tabira, T
      Identification of a Notch3 mutation in a Japanese CADASIL family

      ALZHEIMER DISEASE & ASSOCIATED DISORDERS
    13. Plaster, NM; Uyama, E; Uchino, M; Ikeda, T; Flanigan, KM; Kondo, I; Ptacek, LJ
      Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24

      NEUROLOGY
    14. Uyama, E; Tokunaga, M; Hashimoto, Y; Uchino, M; Suenaga, A; Shioya, K; Kotorii, S; Kamimura, K; Takahashi, K; Tabira, T
      CADASIL and CADASIL-like families in Japan

      1ST INTERNATIONAL CONGRESS ON VASCULAR DEMENTIA
    15. BRAIS B; BOUCHARD JP; XIE YG; ROCHEFORT DL; CHRETIEN N; TOME FMS; LAFRENIERE RG; ROMMENS JM; UYAMA E; NOHIRA O; BLUMEN S; KORCYN AD; HEUTINK P; MATHIEU J; DURANCEAU A; CODERE F; FARDEAU M; ROULEAU GA
      SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

      Nature genetics
    16. UYAMA E; UCHINO M; CHATEAU D; TOME FMS
      AUTOSOMAL RECESSIVE OCULOPHARYNGODISTAL MYOPATHY IN LIGHT OF DISTAL MYOPATHY WITH RIMMED VACUOLES AND OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

      Neuromuscular disorders
    17. UYAMA E; KAMIMURA K; TAKAHASHI K; TOKUNAGA M; TABIRA T; UCHINO M
      NOTCH3 GENE MUTATION IN THE FIRST JAPANESE CADASIL FAMILY

      Annals of neurology
    18. YAMAGUCHI K; UYAMA E; HARA A; IMAMURA S; UCHINO M
      THE FIRST JAPANESE FAMILY PRESENTING AS AUTOSOMAL-DOMINANT PROXIMAL SPINAL MUSCULAR-ATROPHY (OMIM-182980)

      Annals of neurology
    19. UYAMA E; BRAIS B; NOHIRA O; TOKUNAGA M; CHATEAU D; TOME FMS; ROULEAU GA; UCHINO M
      OCULOPHARYNGEAL MUSCULAR-DYSTROPHY - PHENOTYPE GENOTYPE DIFFERENCE IN2 UNRELATED JAPANESE FAMILIES/

      Annals of neurology
    20. 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. 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
    22. 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 SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE

      Journal of the neurological sciences
    23. UYAMA E; NOHIRA O; TOME FMS; CHATEAU D; TOKUNAGA M; ANDO M; MAKI M; OKABE T; UCHINO M
      OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPAN

      Neuromuscular disorders
    24. UTSUMI K; YAMAMOTO N; KASE R; TAKATA T; OKUMIYA T; SAITO H; SUZUKI T; UYAMA E; SAKURABA H
      HIGH-INCIDENCE OF THROMBOSIS IN FABRYS-DISEASE

      Internal medicine
    25. UYAMA E; HARA A; IKENO K; KASE R; SHIMMOTO M; SAKURABA H; UCHINO M
      R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE ADULT CASE OF SANDHOFFS-DISEASE

      Annals of neurology
    26. 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
    27. 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
    28. UYAMA E; UCHINO M; IDA H; ETO Y; OWADA M
      D409H D409H GENOTYPE IN GAUCHER-LIKE DISEASE

      Journal of Medical Genetics
    29. 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
    30. UCHINO M; HARA A; MIZUNO Y; FUJIKI M; NAKAMURA T; TOKUNAGA M; HIRANO T; YAMASHITA T; UYAMA E; ANDO Y; MITA SJ; ANDO M
      DISTRIBUTION OF DYSTROPHIN AND DYSTROPHIN-ASSOCIATED PROTEIN 43DAG (BETA-DYSTROGLYCAN) IN THE CENTRAL-NERVOUS-SYSTEM OF NORMAL CONTROLS ANDPATIENTS WITH DUCHENNE MUSCULAR-DYSTROPHY

      Internal medicine
    31. UYAMA E; NOHIRA O; BRAIS B; TOME FMS; TOKUNAGA M; OKABE T; ROULEAU GA; CHATEAU D; UCHINO M
      OCULOPHARYNGEAL MUSCULAR-DYSTROPHY IN JAPANESE - CLINICOPATHOLOGICAL AND GENETIC-STUDIES

      Annals of neurology
    32. UYAMA E; TOKUNAGA M; MURAKAMI T; KUWANO A; KONDO I; UCHINO M
      FAMILIAL ADULT MYOCLONUS EPILEPSY - A NEW PHENOTYPE OF AUTOSOMAL-DOMINANT MYOCLONUS EPILEPSY

      Annals of neurology
    33. UYAMA E; UCHINO M; ANDO M
      TYPE-3 GM1 GANGLIOSIDOSIS - CLINICAL AND NEURORADIOLOGICAL FINDINGS IN AN 11-YEAR-OLD GIRL - COMMENT

      Journal of neurology
    34. UYAMA E; NOHIRA O; CHATEAU D; TOKUNAGA M; UCHINO M; OKABE T; ANDO M; TOME FMS
      OCULOPHARYNGEAL MUSCULAR-DYSTROPHY 2 UNRELATED JAPANESE FAMILIES

      Neurology
    35. UYAMA E; FUJIKI N; UCHINO M
      EXACERBATION OF MYASTHENIA-GRAVIS DURING INTERFERON-ALPHA - TREATMENT

      Journal of the neurological sciences
    36. 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
    37. 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
    38. UCHINO M; TOKUNAGA M; YAMASHITA T; MITA S; HARA A; UYAMA E; ANDO M
      POLYMERASE CHAIN-REACTION FIBER ANALYSIS AND SOMATIC MOSAICISM IN AUTOPSIED TISSUE FROM A MAN WITH DUCHENNE MUSCULAR-DYSTROPHY

      Annals of neurology
    39. SATO H; ADACHI Y; AONO S; UYAMA E; NANNO T; KEINO H; YAMADA Y; KOIWAI O
      GENETIC INHERITANCE OF GILBERTS-SYNDROME - REPLY

      Lancet
    40. AONO S; ADACHI Y; UYAMA E; YAMADA Y; KEINO H; NANNO T; KOIWAI O; SATO H
      ANALYSIS OF GENES FOR BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE IN GILBERTS-SYNDROME

      Lancet
    41. UYAMA E; UCHINO M; ANDO M
      BALINTS-SYNDROME

      Neurology
    42. UYAMA E; KONDO I; UCHINO M; FUKUSHIMA T; MURAYAMA N; KUWANO A; INOKUCHI N; OHTANI Y; ANDO M
      DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) - CLINICAL, GENETIC, ANDNEURORADIOLOGIC STUDIES IN A FAMILY

      Journal of the neurological sciences
    43. 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
    44. UYAMA E; HIRANO A; LLENA JF
      NEUROPATHOLOGY OF FAMILIAL ALS IN LIGHT OF A TRANSGENIC MOUSE MODEL

      Journal of neuropathology and experimental neurology
    45. UYAMA E; UENO N; UCHINO M; NARAHARA T; OWADA M; TAKETOMI T; ANDO M
      HEADACHE ASSOCIATED WITH ASEPTIC MENINGEAL REACTION AS CLINICAL ONSETOF FABRYS-DISEASE

      Headache
    46. KONDO I; KUWANO A; TAKAKUBO F; MORIMOTO Y; UYAMA E; UCHINO M; ANDO M; YASUDA T; TERAO A
      FAMILIAL DOMINANT FORM OF MYOCLONUS EPILEPSY NOT LINKED TO DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY

      Epilepsia
    47. 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
    48. 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
    49. UCHINO M; YOSHIOKA K; MIKE T; TOKUNAGA M; UYAMA E; TERAMOTO H; NAOE H; ANDO M
      DYSTROPHIN AND DYSTROPHIN-RELATED PROTEIN IN THE BRAINS OF NORMAL ANDMDX MICE

      Muscle & nerve
    50. UCHINO M; ANDO Y; TANAKA Y; NAKAMURA T; UYAMA E; MITA S; MURAKAMI T; ANDO M
      DECREASE IN CU ZN-SUPEROXIDE AND MN-SUPEROXIDE DISMUTASE ACTIVITIES IN BRAIN AND SPINAL-CORD OF PATIENTS WITH AMYOTROPHIC-LATERAL-SCLEROSIS/

      Journal of the neurological sciences
    51. 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
    52. 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
    53. UYAMA E; HIRANO T; ITO K; NAKASHIMA H; SUGIMOTO M; NAITO M; UCHINO M; ANDO M
      ADULT CHEDIAK-HIGASHI-SYNDROME PRESENTING AS PARKINSONISM AND DEMENTIA

      Acta neurologica Scandinavica
    54. UYAMA E; IWAGOE H; MAEDA J; NAKAMURA M; TERASAKI T; ANDO M
      PRESENILE ONSET CEREBRAL ADRENOLEUKODYSTROPHY PRESENTING AS BALINTS-SYNDROME AND DEMENTIA

      Neurology
    55. UYAMA E; KUTSUKAKE Y; HARA A; UEMURA K; UCHINO M; MITA S; ANDO M; TAKETOMI T
      ABNORMAL EXCRETION OF URINARY PHOSPHOLIPIDS AND SULFATIDE IN PATIENTSWITH MITOCHONDRIAL ENCEPHALOMYOPATHIES

      Biochemical and biophysical research communications
    56. 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 CHEDIAK-HIGASHI-SYNDROME

      Acta Neuropathologica


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Documento generato il 30/10/20 alle ore 20:16:45