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La ricerca find articoli where soggetti phrase all words 'MACHADO-JOSEPH DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 358 riferimenti
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    1. Ichikawa, Y; Goto, J; Hattori, M; Toyoda, A; Ishii, K; Jeong, SY; Hashida, H; Masuda, N; Ogata, K; Kasai, F; Hirai, M; Maciel, P; Rouleau, GA; Sakaki, Y; Kanazawa, I
      The genomic structure and expression of MJD, the Machado-Joseph disease gene

      JOURNAL OF HUMAN GENETICS
    2. Kimura, Y; Koitabashi, S; Kakizuka, A; Fujita, T
      Initial process of polyglutamine aggregate formation in vivo

      GENES TO CELLS
    3. Jankovic, J; Tintner, R
      Dystonia and parkinsonism

      PARKINSONISM & RELATED DISORDERS
    4. Bonini, NM
      Drosophila as a genetic approach to human neurodegenerative disease

      PARKINSONISM & RELATED DISORDERS
    5. Nozaki, K; Onodera, O; Takano, H; Tsuji, S
      Amino acid sequences flanking polyglutamine stretches influence their potential for aggregate formation

      NEUROREPORT
    6. Grierson, AJ; Shaw, CE; Miller, CCJ
      Androgen induced cell death in SHSY5Y neuroblastoma cells expressing wild-type and spinal bulbar muscular atrophy mutant androgen receptors

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    7. Colcher, A; Simuni, T
      Other Parkinson syndromes

      NEUROLOGIC CLINICS
    8. Paulson, H; Ammache, Z
      Ataxia and hereditary disorders

      NEUROLOGIC CLINICS
    9. Shan, DE; Soong, BW; Sun, CM; Lee, SJ; Liao, KK; Liu, RS
      Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

      ANNALS OF NEUROLOGY
    10. van Alfen, N; Sinke, RJ; Zwarts, MJ; Gabreels-Festen, A; Praamstra, P; Kremer, BPH; Horstink, MWIM
      Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

      ANNALS OF NEUROLOGY
    11. Kobayashi, Y; Sobue, G
      Protective effect of chaperones on polyglutamine diseases

      BRAIN RESEARCH BULLETIN
    12. Yoshizawa, T; Yoshida, H; Shoji, S
      Differential susceptibility of cultured cell lines to aggregate formation and cell death produced by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch

      BRAIN RESEARCH BULLETIN
    13. Cellini, E; Forleo, P; Nacmias, B; Tedde, A; Latorraca, S; Piacentini, S; Parnetti, L; Gallai, V; Sorbi, S
      Clinical and genetic analysis of hereditary and sporadic ataxia in centralItaly

      BRAIN RESEARCH BULLETIN
    14. Abele, M; Burk, K; Laccone, F; Dichgans, J; Klockgether, T
      Restless legs syndrome in spinocerebellar ataxia types 1, 2, and 3

      JOURNAL OF NEUROLOGY
    15. Schelhaas, HJ; Ippe, PF; Hageman, G; Sinke, RJ; van der Laan, EN; Beemer, FA
      Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

      JOURNAL OF NEUROLOGY
    16. Jardim, LB; Silveira, I; Pereira, ML; Ferro, A; Alonso, I; Moreira, MDC; Mendonca, P; Ferreirinha, F; Sequeiros, J; Giugliani, R
      A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease - Causing mutations

      JOURNAL OF NEUROLOGY
    17. Evert, BO; Vogt, IR; Kindermann, C; Ozimek, L; de Vos, RAI; Brunt, ERP; Schmitt, I; Klockgether, T; Wullner, U
      Inflammatory genes are upregulated in expanded ataxin-3-expressing cell lines and spinocerebellar ataxia type 3 brains

      JOURNAL OF NEUROSCIENCE
    18. Mori, M; Adachi, Y; Kusumi, M; Nakashima, K
      A genetic epidemiological study of spinocerebellar ataxias in Tottori Prefecture, Japan

      NEUROEPIDEMIOLOGY
    19. Cattaneo, E; Rigamonti, D; Goffredo, D; Zuccato, C; Squitieri, F; Sipione, S
      Loss of normal huntingtin function: new developments in Huntington's disease research

      TRENDS IN NEUROSCIENCES
    20. Rosenblatt, A; Brinkman, RR; Liang, KY; Almqvist, EW; Margolis, RL; Huang, CY; Sherr, M; Franz, ML; Abbott, MH; Hayden, MR; Ross, CA
      Familial influence on age of onset among siblings with Huntington disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    21. Bodenmann, P; Ghika, J; van Mele, G; Bogousslavsky, J
      Neurological comorbidity in parkinsonism.

      REVUE NEUROLOGIQUE
    22. Rantamaki, M; Krahe, R; Paetau, A; Cormand, B; Mononen, I; Udd, B
      Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

      NEUROLOGY
    23. Miyoshi, Y; Yamada, T; Tanimura, M; Taniwaki, T; Arakawa, K; Ohyagi, Y; Furuya, H; Yamamoto, K; Sakai, K; Sasazuki, T; Kira, J
      A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1

      NEUROLOGY
    24. Hashida, H; Goto, J; Suzuki, T; Jeong, SY; Masuda, N; Ooie, T; Tachiiri, Y; Tsuchiya, H; Kanazawa, I
      Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA)

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    25. Shimazaki, H; Takiyama, Y; Sakoe, K; Amaike, M; Nagaki, H; Namekawa, M; Sasaki, H; Nakano, I; Nishizawa, M
      Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    26. Takahashi, J; Tanaka, J; Arai, K; Funata, N; Hattori, T; Fukuda, T; Fujigasaki, H; Uchihara, T
      Recruitment of nonexpanded polyglutamine proteins to intranuclear aggregates in neuronal intranuclear hyaline inclusion disease

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    27. Chai, YH; Wu, LZ; Griffin, JD; Paulson, HL
      The role of protein composition in specifying nuclear inclusion formation in polyglutamine disease

      JOURNAL OF BIOLOGICAL CHEMISTRY
    28. Schulte, T; Mattern, R; Berger, K; Szymanski, S; Klotz, P; Kraus, PH; Przuntek, H; Schols, L
      Double-blind crossover trial of trimethoprim-sulfamethoxazole in spinocerebellar ataxia type 3/Machado-Joseph disease

      ARCHIVES OF NEUROLOGY
    29. Soong, BW; Lu, YC; Choo, KB; Lee, HY
      Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6

      ARCHIVES OF NEUROLOGY
    30. Zhou, YX; Qiao, WH; Gu, WH; Xie, H; Tang, BS; Zhou, LS; Yang, BX; Takiyama, Y; Tsuji, S; He, HY; Deng, CX; Goldfarb, LG; Wang, GX
      Spinocerebellar ataxia type 1 in China - Molecular analysis and genotype-phenotype correlation in 5 families

      ARCHIVES OF NEUROLOGY
    31. Gwinn-Hardy, K; Singleton, A; O'Suilleabhain, P; Boss, M; Nicholl, D; Adam, A; Hussey, J; Critchley, P; Hardy, J; Farrer, M
      Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family

      ARCHIVES OF NEUROLOGY
    32. Soong, BW; Liu, RS; Wu, LC; Lu, YC; Lee, HY
      Metabolic characterization of spinocerebellar ataxia type 6

      ARCHIVES OF NEUROLOGY
    33. Berthelier, V; Hamilton, JB; Chen, SM; Wetzel, R
      A microtiter plate assay for polyglutamine aggregate extension

      ANALYTICAL BIOCHEMISTRY
    34. Uchihara, T; Fujigasaki, H; Koyano, S; Nakamura, A; Yagishita, S; Iwabuchi, K
      Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias - triple-labeling immunofluorescence study

      ACTA NEUROPATHOLOGICA
    35. Yamada, M; Hayashi, S; Tsuji, S; Takahashi, H
      Involvement of the cerebral cortex and autonomic ganglia in Machado-Josephdisease

      ACTA NEUROPATHOLOGICA
    36. Jardim, LB; Pereira, ML; Silveira, I; Ferro, A; Sequeiros, J; Giugliani, R
      Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

      ACTA NEUROLOGICA SCANDINAVICA
    37. Cummings, CJ; Zoghbi, HY
      Trinucleotide repeats: Mechanisms and pathophysiology

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    38. Gusella, JF; MacDonald, ME
      Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease

      NATURE REVIEWS NEUROSCIENCE
    39. Usdin, K; Grabczyk, E
      DNA repeat expansions and human disease

      CELLULAR AND MOLECULAR LIFE SCIENCES
    40. Cram, DS; Song, B; MacLachlan, RI; Trounson, AO
      CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI

      MOLECULAR HUMAN REPRODUCTION
    41. Schelhaas, HJ; Ippel, PF; Beemer, FA; Hageman, G
      Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias

      EUROPEAN JOURNAL OF NEUROLOGY
    42. Huynh, DP; Figueroa, K; Hoang, N; Pulst, SM
      Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human

      NATURE GENETICS
    43. Jonasson, J; Juvonen, V; Sistonen, P; Ignatius, J; Johansson, D; Bjorck, EJ; Wahlstrom, J; Melberg, A; Holmgren, G; Forsgren, L; Holmberg, M
      Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    44. Stevanin, G; Durr, A; Brice, A
      Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology

      EUROPEAN JOURNAL OF HUMAN GENETICS
    45. Lindenberg, KS; Yvert, G; Muller, K; Landwehrmeyer, GB
      Expression analysis of ataxin-7 mRNA and protein in human brain: Evidence for a widespread distribution and focal protein accumulation

      BRAIN PATHOLOGY
    46. Yanagisawa, H; Bundo, M; Miyashita, T; Okamura-Oho, Y; Tadokoro, K; Tokunaga, K; Yamada, M
      Protein binding of a DRPLA family through arginine-glutamic acid dipeptiderepeats is enhanced by extended polyglutamine

      HUMAN MOLECULAR GENETICS
    47. Fortune, MT; Vassilopoulos, C; Coolbaugh, MI; Siciliano, MJ; Monckton, DG
      Dramatic, expansion-biased, age-dependent, tissue specific somatic mosaicism in a transgenic mouse model of triplet repeat instability

      HUMAN MOLECULAR GENETICS
    48. Kovtun, IV; Therneau, TM; McMurray, CT
      Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene

      HUMAN MOLECULAR GENETICS
    49. Gaspar, C; Jannatipour, M; Dion, P; Laganiere, J; Sequeiros, J; Brais, B; Rouleau, GA
      CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation

      HUMAN MOLECULAR GENETICS
    50. Hayes, S; Turecki, G; Brisebois, K; Lopes-Cendes, I; Gaspar, C; Riess, O; Ranum, LPW; Pulst, SM; Rouleau, GA
      CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

      HUMAN MOLECULAR GENETICS
    51. Wang, GH; Sawai, N; Kotliarova, S; Kanazawa, I; Nukina, N
      Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B

      HUMAN MOLECULAR GENETICS
    52. Kazuta, T; Hayashi, M; Shimizu, T; Iwasaki, A; Nakamura, S; Hirai, S
      Autonomic dysfunction in Machado-Joseph disease assessed by iodine (123)-labeled metaiodobenzylguanidine myocardial scintigraphy

      CLINICAL AUTONOMIC RESEARCH
    53. Klockgether, T; Wullner, U; Spauschus, A; Evert, B
      The molecular biology of the autosomal-dominant cerebellar ataxias

      MOVEMENT DISORDERS
    54. Gilman, S
      The spinocerebellar ataxias

      CLINICAL NEUROPHARMACOLOGY
    55. Watanabe, H; Tanaka, F; Doyu, M; Riku, S; Yoshida, M; Hashizume, Y; Sobue, G
      Differential somatic CAG repeat instability in variable brain cell lineagein dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis

      HUMAN GENETICS
    56. Schols, L; Szymanski, S; Peters, S; Przuntek, H; Epplen, JT; Hardt, C; Riess, O
      Genetic background of apparently idiopathic sporadic cerebellar ataxia

      HUMAN GENETICS
    57. Saleem, Q; Choudhry, S; Mukerji, M; Bashyam, L; Padma, MV; Chakravarthy, A; Maheshwari, MC; Jain, S; Brahmachari, SK
      Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation

      HUMAN GENETICS
    58. Hsieh, M; Lin, SJ; Chen, JF; Lin, HM; Hsiao, KM; Li, SY; Li, C; Tsai, CJ
      Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot

      JOURNAL OF NEUROLOGY
    59. Tsuji, S
      Dentatorubral-pallidoluysian atrophy (DRPLA)

      JOURNAL OF NEURAL TRANSMISSION-SUPPLEMENT
    60. Evert, BO; Wullner, U; Klockgether, T
      Cell death in polyglutamine diseases

      CELL AND TISSUE RESEARCH
    61. Restituito, S; Thompson, RM; Eliet, J; Raike, RS; Riedl, M; Charnet, P; Gomez, CM
      The polyglutamine expansion in spinocerebellar ataxia type 6 causes a betasubunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes

      JOURNAL OF NEUROSCIENCE
    62. Kanda, T
      Pathological changes of human unmyelinated nerve fibers: a review

      HISTOLOGY AND HISTOPATHOLOGY
    63. Yen, TC; Lu, CS; Tzen, KY; Wey, SP; Chou, YHW; Weng, YH; Kao, PF; Ting, G
      Decreased dopamine transporter binding in Machacio-Joseph disease

      JOURNAL OF NUCLEAR MEDICINE
    64. Culjkovic, B; Stojkovic, O; Savic, D; Zamurovic, N; Nesic, M; Major, T; Keckarevic, D; Romac, S; Zamurovic, B; Vukosavic, S
      Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    65. Zoghbi, HY; Orr, HT
      Glutamine repeats and neurodegeneration

      ANNUAL REVIEW OF NEUROSCIENCE
    66. Adachi, M; Hosoya, T; Yamaguchi, K; Kawanami, T; Kato, T
      Diffusion-and T2-weighted MRI of the transverse pontine fibres in spinocerebellar degeneration

      NEURORADIOLOGY
    67. Ikeda, Y; Shizuka, M; Watanabe, M; Okamoto, K; Shoji, M
      Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan

      NEUROLOGY
    68. Nagaoka, U; Takashima, M; Ishikawa, K; Yoshizawa, K; Yoshizawa, T; Ishikawa, M; Yamawaki, T; Shoji, S; Mizusawa, H
      A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia

      NEUROLOGY
    69. Kageyama, T; Oeda, T; Imura, T; Kawamata, J; Suzuki, S; Tomimoto, H; Shimohama, S
      Coexistence of expanded CAG repeats in the MJD1 alpha and DRPLA genes

      NEUROLOGY
    70. Evidente, VGH; Gwinn-Hardy, KA; Caviness, JN; Gilman, S
      Hereditary ataxias

      MAYO CLINIC PROCEEDINGS
    71. Onodera, Y; Aoki, M; Tsuda, T; Kato, H; Nagata, T; Kameya, T; Abe, K; Itoyama, Y
      High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    72. Sasaki, H; Yabe, I; Yamashita, I; Tashiro, K
      Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    73. Ohyagi, Y; Yamada, T; Okayama, A; Sakae, N; Yamasaki, T; Ohshima, T; Sakamoto, T; Fujii, N; Kira, J
      Vergence disorders in patients with spinocerebellar ataxia 3/Machado-Joseph disease: a synoptophore study

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    74. Kobayashi, Y; Kume, A; Li, M; Doyu, M; Hata, M; Ohtsuka, K; Sobue, G
      Chaperones Hsp70 and Hsp40 suppress aggregate formation and apoptosis in cultured neuronal cells expressing truncated androgen receptor protein with expanded polyglutamine tract

      JOURNAL OF BIOLOGICAL CHEMISTRY
    75. Fujigasaki, H; Uchihara, T; Koyano, S; Iwabuchi, K; Yagishita, S; Makifuchi, T; Nakamura, A; Ishida, K; Toru, S; Hirai, S; Ishikawa, K; Tanabe, T; Mizusawa, H
      Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado-Joseph disease brains

      EXPERIMENTAL NEUROLOGY
    76. Filla, A; Mariotti, C; Caruso, G; Coppola, G; Cocozza, S; Castaldo, I; Calabrese, O; Salvatore, E; De Michele, G; Riggio, MC; Pareyson, D; Gellera, C; Di Donato, S
      Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families

      EUROPEAN NEUROLOGY
    77. Sugawara, M; Toyoshima, I; Wada, C; Kato, K; Ishikawa, K; Hirota, K; Ishiguro, H; Kagaya, H; Hirata, Y; Imota, T; Ogasawara, M; Masamune, O
      Pontine atrophy in spinocerebellar ataxia type 6

      EUROPEAN NEUROLOGY
    78. Kato, T; Tanaka, F; Yamamoto, M; Yosida, E; Indo, T; Watanabe, H; Yoshiwara, T; Doyu, M; Sobue, G
      Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes

      CLINICAL GENETICS
    79. Cancel, G; Duyckaerts, C; Holmberg, M; Zander, C; Yvert, G; Lebre, AS; Ruberg, M; Faucheux, B; Agid, Y; Hirsch, E; Brice, A
      Distribution of ataxin-7 in normal human brain and retina

      BRAIN
    80. Monoi, H; Futaki, S; Kugimiya, S; Minakata, H; Yoshihara, K
      Poly-(L)-glutamine forms cation channels: Relevance to the pathogenesis ofthe polyglutamine diseases

      BIOPHYSICAL JOURNAL
    81. Landau, WM; Schmidt, RE; McGlennen, RC; Reich, SG
      Hereditary spastic paraplegia and hereditary ataxia - Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype

      ARCHIVES OF NEUROLOGY
    82. Tang, BS; Liu, CY; Shen, L; Dai, HP; Pan, Q; Jing, LJ; Shan, QY; Xia, JH
      Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotiderepeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds

      ARCHIVES OF NEUROLOGY
    83. Schols, L; Peters, S; Szymanski, S; Kruger, R; Lange, S; Hardt, C; Riess, O; Przuntek, H
      Extrapyramidal motor signs in degenerative ataxias

      ARCHIVES OF NEUROLOGY
    84. Silveira, I; Alonso, I; Guimaraes, L; Mendonca, P; Santos, C; Maciel, P; de Matos, JMF; Costa, M; Barbot, C; Tuna, A; Barros, J; Jardim, L; Coutinho, P; Sequeiros, J
      High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles

      AMERICAN JOURNAL OF HUMAN GENETICS
    85. Takegoshi, H; Murofushi, T
      Vestibular evoked myogenic potentials in patients with spinocerebellar degeneration

      ACTA OTO-LARYNGOLOGICA
    86. Yamada, M; Piao, YS; Toyoshima, Y; Tsuji, S; Takahashi, H
      Ubiquitinated filamentous inclusions in cerebellar dentate nucleus neuronsin dentatorubral-pallidoluysian atrophy contain expanded polyglutamine stretches

      ACTA NEUROPATHOLOGICA
    87. Kumada, S; Hayashi, M; Mizuguchi, M; Nakano, I; Morimatsu, Y; Oda, M
      Cerebellar degeneration in hereditary dentatorubral-pallidoluysian atrophyand Machado-Joseph disease

      ACTA NEUROPATHOLOGICA
    88. Yang, Q; Hashizume, Y; Yoshida, M; Wang, Y; Goto, Y; Mitsuma, N; Ishikawa, K; Mizusawa, H
      Morphological Purkinje cell changes in spinocerebellar ataxia type 6

      ACTA NEUROPATHOLOGICA
    89. Giuffrida, S; Lanza, S; Restivo, DA; Saponara, R; Valvo, SC; Le Pira, F; Salinaro, AT; Spinella, F; Nicoletti, A; Condorelli, DF
      Clinical and molecular analysis of 11 Sicilian SCA2 families: influence ofgender on age at onset

      EUROPEAN JOURNAL OF NEUROLOGY
    90. Klement, IA; Zoghbi, HY; Orr, HT
      Pathogenesis of polyglutamine-induced disease: A model for SCA1

      MOLECULAR GENETICS AND METABOLISM
    91. Warrick, JM; Chan, HYE; Gray-Board, GL; Chai, YH; Paulson, HL; Bonini, NM
      Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70

      NATURE GENETICS
    92. Koob, MD; Moseley, ML; Schut, LJ; Benzow, KA; Bird, TD; Day, JW; Ranum, LPW
      An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

      NATURE GENETICS
    93. Laccone, F; Maiwald, R; Bingemann, S
      A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes

      HUMAN MUTATION
    94. Stevanin, G; David, G; Durr, A; Giunti, P; Benomar, A; Abada-Bendib, M; Lee, MS; Agid, Y; Brice, A
      Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G(3145)TG/A(3145)TG)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    95. Pang, J; Allotey, R; Wadia, N; Sasaki, H; Bindoff, L; Chamberlain, S
      A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin

      EUROPEAN JOURNAL OF HUMAN GENETICS
    96. Kim, JM; Shin, S; Kim, JY; Joo, SI; Park, SS; Kim, JW; Jeon, BS
      Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics

      JOURNAL OF KOREAN MEDICAL SCIENCE
    97. Boutell, JM; Thomas, P; Neal, JW; Weston, VJ; Duce, J; Harper, PS; Jones, AL
      Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin

      HUMAN MOLECULAR GENETICS
    98. Evert, BO; Wullner, U; Schulz, JB; Weller, M; Groscurth, P; Trottier, Y; Brice, A; Klockgether, T
      High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells

      HUMAN MOLECULAR GENETICS
    99. Ishikawa, K; Fujigasaki, H; Saegusa, H; Ohwada, K; Fujita, T; Iwamoto, H; Komatsuzaki, Y; Toru, S; Toriyama, H; Watanabe, M; Ohkoshi, N; Shoji, S; Kanazawa, I; Tanabe, T; Mizusawa, H
      Abundant expression and cytoplasmic aggregations of alpha 1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

      HUMAN MOLECULAR GENETICS
    100. Okamura-Oho, Y; Miyashita, T; Ohmi, K; Yamada, M
      Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate

      HUMAN MOLECULAR GENETICS


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Documento generato il 10/08/20 alle ore 14:22:41