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La ricerca find articoli where soggetti phrase all words 'ATAXIA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 3424 riferimenti
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    1. Di Donato, S; Gellera, C; Mariotti, C
      The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias

      NEUROLOGICAL SCIENCES
    2. Merchany, SN; McKenna, MJ; Nadol, JB; Kristiansen, AG; Tropitzsch, A; Lindal, S; Tranebjaerg, L
      Temporal bone histopathologic and genetic studies in Mohr-Tranebj rg syndrome (DFN-1)

      OTOLOGY & NEUROTOLOGY
    3. Moses, RE
      DNA damage processing defects and disease

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    4. Taylor, AMR
      Chromosome instability syndromes

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    5. Anderson, GJ
      Ironing out disease: Inherited disorders of iron homeostasis

      IUBMB LIFE
    6. Larsson, NG; Rustin, P
      Animal models for respiratory chain disease

      TRENDS IN MOLECULAR MEDICINE
    7. Murphy, MP
      Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction

      EXPERT OPINION ON BIOLOGICAL THERAPY
    8. van Gent, DC; Hoeijmakers, JHJ; Kanaar, R
      Chromosomal stability and the DNA double-stranded break connection

      NATURE REVIEWS GENETICS
    9. Karnath, HO
      New insights into the functions of the superior temporal cortex

      NATURE REVIEWS NEUROSCIENCE
    10. Behrens, A; Brandner, S; Genoud, N; Aguzzi, A
      Normal neurogenesis and scrapie pathogenesis in neural grafts lacking the prion protein homologue Doppel

      EMBO REPORTS
    11. Grenon, M; Gilbert, C; Lowndes, NF
      Checkpoint activation in response to double-strand breaks requires the Mre11/Rad50/Xrs2 complex

      NATURE CELL BIOLOGY
    12. Wahl, GM; Carr, AM
      The evolution of diverse biological responses to DNA damage: insights fromyeast and p53

      NATURE CELL BIOLOGY
    13. Fry, MJ
      Phosphoinositide 3-kinase signalling in breast cancer: how big a role might it play?

      BREAST CANCER RESEARCH
    14. Hoffmann, W; Oberheitmann, B; Frentzel-Beyme, R
      "Host factors" - evolution of concepts of individual sensitivity and susceptibility

      INTERNATIONAL JOURNAL OF HYGIENE AND ENVIRONMENTAL HEALTH
    15. 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
    16. Takashima, M; Ishikawa, K; Nagaoka, U; Shoji, S; Mizusawa, H
      A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan

      JOURNAL OF HUMAN GENETICS
    17. Matsunaga, K; Uozumi, T; Hashimoto, T; Tsuji, S
      Cerebellar stimulation in acute cerebellar ataxia

      CLINICAL NEUROPHYSIOLOGY
    18. Fellows, SJ; Ernst, J; Schwarz, M; Topper, R; Noth, J
      Precision grip deficits in cerebellar disorders in man

      CLINICAL NEUROPHYSIOLOGY
    19. Celesia, GG
      Disorders of membrane channels or channelopathies

      CLINICAL NEUROPHYSIOLOGY
    20. Thompson, LH; Schild, D
      Homologous recombinational repair of DNA ensures mammalian chromosome stability

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    21. Bebb, DG; Warrington, PJ; de Jong, G; Yu, Z; Moffat, JA; Skov, K; Spacey, S; Gelmon, K; Glickman, BW
      Radiation induced apoptosis in ataxia telangiectasia homozygote, heterozygote and normal cells

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    22. Vormittag, W; Brannath, W
      As to the clastogenic-, sister-chromatid exchange inducing- and cytotoxic activity of inosine triphosphate in cultures of human peripheral lymphocytes

      MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
    23. Bolzan, AD; Bianchi, MS
      Genotoxicity of streptonigrin: a review

      MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
    24. Humar, B; Muller, H; Scott, RJ
      Cell cycle dependent DNA break increase in ataxia telangiectasia lymphoblasts after radiation exposure

      JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY
    25. Aisen, P; Enns, C; Wessling-Resnick, M
      Chemistry and biology of eukaryotic iron metabolism

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    26. Becker, E; Richardson, DR
      Frataxin: its role in iron metabolism and the pathogenesis of Friedreich'sataxia

      INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
    27. Bonini, NM
      Drosophila as a genetic approach to human neurodegenerative disease

      PARKINSONISM & RELATED DISORDERS
    28. Gilman, S
      Biochemical changes in multiple system atrophy detected with positron emission tomography

      PARKINSONISM & RELATED DISORDERS
    29. Gabsi, S; Gouider-Khouja, N; Belal, S; Fki, M; Kefi, M; Turki, I; Ben Hamida, M; Kayden, H; Mebazaa, R; Hentati, F
      Effect of vitamin E supplementation in patients with ataxia with vitamin Edeficiency

      EUROPEAN JOURNAL OF NEUROLOGY
    30. Gasser, T; Dichgans, M; Finsterer, J; Hausmanowa-Petrusewicz, I; Jurkat-Rott, K; Klopstock, T; LeGuern, E; Lehesjoki, AE; Lehmann-Horn, F; Lynch, T; Morris, H; Rossor, M; Steinlein, OK; Wood, N; Zaremba, J; Zeviani, M; Zoharn, A
      EFNS task force on molecular diagnosis of neurologic disorders - Guidelines for the molecular diagnosis of inherited neurologic diseases - First of two parts

      EUROPEAN JOURNAL OF NEUROLOGY
    31. Botez-Marquard, T; Bard, C; Leveille, J; Botez, MI
      A severe frontal-parietal lobe syndrome following cerebellar damage

      EUROPEAN JOURNAL OF NEUROLOGY
    32. Hanagasi, HA; Gurol, E; Sahin, HA; Emre, M
      Atypical neurological involvement associated with celiac disease

      EUROPEAN JOURNAL OF NEUROLOGY
    33. Vemuri, MC; Schiller, E; Naegele, JR
      Elevated DNA double strand breaks and apoptosis in the CNS of scid mutant mice

      CELL DEATH AND DIFFERENTIATION
    34. Khanna, KK; Lavin, MF; Jackson, SP; Mulhern, TD
      ATM, a central controller of cellular responses to DNA damage

      CELL DEATH AND DIFFERENTIATION
    35. Seemungal, BM; Gresty, MA; Bronstein, AM
      The endocrine system, vertigo and balance

      CURRENT OPINION IN NEUROLOGY
    36. Tucker, M; Ellis, R
      The potentiation of grasp types during visual object categorization

      VISUAL COGNITION
    37. Kamiya, M; Yamanouchi, H; Yoshida, T; Arai, H; Sasaki, A; Hirato, J; Nakazato, Y; Sakazume, Y; Okamoto, K
      Ataxia telangiectasia with vascular abnormalities in the brain parenchyma:Report of an autopsy case and literature review

      PATHOLOGY INTERNATIONAL
    38. Yuan, QP; Lindblad-Toh, K; Zander, C; Burgess, C; Durr, A; Schalling, M
      A cloning strategy for identification of genes containing trinucleotide repeat expansions

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    39. Palau, F
      Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    40. Chen, L; Trujillo, K; Ramos, W; Sung, P; Tomkinson, AE
      Promotion of Dnl4-catalyzed DNA end-joining by the Rad50/Mre11/Xrs2 and Hdfl/Hdf2 complexes

      MOLECULAR CELL
    41. Costanzo, V; Robertson, K; Bibikova, M; Kim, E; Grieco, D; Gottesman, M; Carroll, D; Gautier, J
      Mre11 protein complex prevents double-strand break accumulation during chromosomal DNA replication

      MOLECULAR CELL
    42. Usui, T; Ogawa, H; Petrini, JHJ
      A DNA damage response pathway controlled by Tel1 and the Mre11 complex

      MOLECULAR CELL
    43. Keller, DM; Zeng, XY; Wang, Y; Zhang, QH; Kapoor, M; Shu, HJ; Goodman, R; Lozano, G; Zhao, YM; Lu, H
      A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16, and SSRP1

      MOLECULAR CELL
    44. Singh, G; Binstadt, BA; Black, DF; Corr, AP; Rummans, TA
      Electroconvulsive therapy and Friedreich's ataxia

      JOURNAL OF ECT
    45. Liu, JS; Sabatti, C; Teng, J; Keats, BJB; Risch, N
      Bayesian analysis of haplotypes for linkage disequilibrium mapping

      GENOME RESEARCH
    46. Rescigno, R; Dinowitz, M
      Ophthalmic manifestations of immunodeficiency states

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    47. Nathanson, KN; Wooster, R; Weber, BL
      Breast cancer genetics: What we know and what we need

      NATURE MEDICINE
    48. Garcia-Perez, MA; Allende, LM; Corell, A; Paz-Artal, E; Varela, P; Lopez-Goyanes, A; Garcia-Martin, F; Vazquez, R; Sotoca, A; Arnaiz-Villena, A
      Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways

      CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY
    49. Eggenberger, E; Cornblath, W; Stewart, DH
      Oculopalatal tremor with tardive ataxia

      JOURNAL OF NEURO-OPHTHALMOLOGY
    50. Maser, RS; Zinkel, R; Petrini, JHJ
      An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

      NATURE GENETICS
    51. Khanna, KK; Jackson, SP
      DNA double-strand breaks: signaling, repair and the cancer connection

      NATURE GENETICS
    52. Brenner, M; Johnson, AB; Boespflug-Tanguy, O; Rodriguez, D; Goldman, JE; Messing, A
      Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

      NATURE GENETICS
    53. Ratka, A; Erramouspe, J
      Intramuscular ceftriaxone in the treatment of childhood meningitis due to Haemophilus influenzae type f

      ANNALS OF PHARMACOTHERAPY
    54. Oakley, GG; Loberg, LI; Yao, JQ; Risinger, MA; Yunker, RL; Zernik-Kobak, M; Khanna, KK; Lavin, MF; Carty, MP; Dixon, K
      UV-induced hyperphosphorylation of replication protein a depends on DNA replication and expression of ATM protein

      MOLECULAR BIOLOGY OF THE CELL
    55. Gasch, AP; Huang, MX; Metzner, S; Botstein, D; Elledge, SJ; Brown, PO
      Genomic expression responses to DNA-damaging agents and the regulatory role of the yeast ATR homolog Mec1p

      MOLECULAR BIOLOGY OF THE CELL
    56. Vandenberghe, R; Gitelman, DR; Parrish, TB; Mesulam, MM
      Functional specificity of superior parietal mediation of spatial shifting

      NEUROIMAGE
    57. Sarkaria, JN; Eshleman, JS
      ATM as a target for novel radiosensitizers

      SEMINARS IN RADIATION ONCOLOGY
    58. Boesch, SM; Schocke, M; Burk, K; Hollosi, P; Fornai, F; Aichner, FT; Poewe, W; Felber, S
      Proton magnetic resonance spectroscopic imaging reveals differences in spinocerebellar ataxia types 2 and 6

      JOURNAL OF MAGNETIC RESONANCE IMAGING
    59. Rhodes, N; Gilmer, TM; Lansing, TJ
      Expression and purification of active recombinant ATM protein from transiently transfected mammalian cells

      PROTEIN EXPRESSION AND PURIFICATION
    60. Soulier, J; Pierron, G; Vecchione, D; Garand, R; Brizard, F; Sigaux, F; Stern, MH; Aurias, A
      A complex pattern of recurrent chromosomal bosses and gains in T-cell prolymphocytic leukemia

      GENES CHROMOSOMES & CANCER
    61. Yuille, MR; Condie, A; Stone, EM; Wilsher, J; Bradshaw, PS; Brooks, L; Catovsky, D
      TCL1 is activated by chromosomal rearrangement or by hypomethylation

      GENES CHROMOSOMES & CANCER
    62. Borg, A
      Molecular and pathological characterization of inherited breast cancer

      SEMINARS IN CANCER BIOLOGY
    63. Deng, CX; Brodie, SG
      Knockout mouse models and mammary tumorigenesis

      SEMINARS IN CANCER BIOLOGY
    64. Park, SJ; Oh, EJ; Yoo, MA; Lee, SH
      Involvement of DNA-dependent protein kinase in regulation of stress-induced JNK activation

      DNA AND CELL BIOLOGY
    65. Friedlander, PL
      Genomic instability in head and neck cancer patients

      HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
    66. Monni, O; Knuutila, S
      11q deletions in hematological malignancies

      LEUKEMIA & LYMPHOMA
    67. Tuteja, N; Tuteja, R
      Unraveling DNA repair in human: Molecular mechanisms and consequences of repair defect

      CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY
    68. Bockenhauer, D
      Ion channels in disease

      CURRENT OPINION IN PEDIATRICS
    69. Parshad, R; Sanford, KK
      Radiation-induced chromatid breaks and deficient DNA repair in cancer predisposition

      CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY
    70. Grattan-Smith, PJ; Healey, S; Grigg, JR; Christodoulou, J
      Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    71. Khromykh, YM; Kotlovanova, LV
      The rad201 gene of Drosophila melanogaster controls mitotic delay in irradiated cells

      RUSSIAN JOURNAL OF GENETICS
    72. Zuhlke, C; Hellenbroich, Y; Dalski, A; Kononowa, N; Hagenah, J; Vieregge, P; Riess, O; Klein, C; Schwinger, E
      Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    73. Baysal, BE; Willett-Brozick, JE; Taschner, PEM; Dauwerse, JG; Devilee, P; Devlin, B
      A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-MbBAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region

      EUROPEAN JOURNAL OF HUMAN GENETICS
    74. Krespi, Y; Aykutlu, E; Coban, U; Tuncay, R; Bahar, S
      Internuclear ophthalmoplegia and cerebellar ataxia: Report of one case

      CEREBROVASCULAR DISEASES
    75. Martin, NMB
      DNA repair inhibition and cancer therapy

      JOURNAL OF PHOTOCHEMISTRY AND PHOTOBIOLOGY B-BIOLOGY
    76. Schilling, G; Jinnah, HA; Gonzales, V; Coonfield, ML; Kim, Y; Wood, JD; Price, DL; Li, XJ; Jenkins, N; Copeland, N; Moran, T; Ross, CA; Borchelt, DR
      Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA

      NEUROBIOLOGY OF DISEASE
    77. Galanaud, D; Le Fur, Y; Nicoli, F; Denis, W; Confort-Gouny, S; Ranjeva, JP; Viout, P; Pelletier, J; Cozzone, PJ
      Regional metabolite levels of the normal posterior fossa studied by protonchemical shift imaging

      MAGNETIC RESONANCE MATERIALS IN PHYSICS BIOLOGY AND MEDICINE
    78. Cleaver, JE
      Xeroderma pigmentosum: the first of the cellular caretakers

      TRENDS IN BIOCHEMICAL SCIENCES
    79. Nathanson, KL; Weber, BL
      'Other' breast cancer susceptibility genes: searching for more holy grail

      HUMAN MOLECULAR GENETICS
    80. Gordon, DM; Kogan, M; Knight, SAB; Dancis, A; Pain, D
      Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p

      HUMAN MOLECULAR GENETICS
    81. Harland, M; Mistry, S; Bishop, DT; Bishop, JAN
      A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees

      HUMAN MOLECULAR GENETICS
    82. Zander, C; Takahashi, J; El Hachimi, KH; Fujigasaki, H; Albanese, V; Lebre, AS; Stevanin, G; Duyckaerts, C; Brice, A
      Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3

      HUMAN MOLECULAR GENETICS
    83. Fan, XP; Dion, P; Laganiere, J; Brais, B; Rouleau, GA
      Oligomerization of polyalanine expanded PABPN1 facilitates nuclear proteinaggregation that is associated with cell death

      HUMAN MOLECULAR GENETICS
    84. Choudhry, S; Mukerji, M; Srivastava, AK; Jain, S; Brahmachari, SK
      CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms

      HUMAN MOLECULAR GENETICS
    85. Huynen, MA; Snel, B; Bork, P; Gibson, TJ
      The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly

      HUMAN MOLECULAR GENETICS
    86. Roy, CN; Andrews, NC
      Recent advances in disorders of iron metabolism: mutations, mechanisms andmodifiers

      HUMAN MOLECULAR GENETICS
    87. Richards, RI
      Dynamic mutations: a decade of unstable expanded repeats in human genetic disease

      HUMAN MOLECULAR GENETICS
    88. Orr, HT; Zoghbi, HY
      SCA1 molecular genetics: a history of a 13 year collaboration against glutamines

      HUMAN MOLECULAR GENETICS
    89. Tan, G; Chen, LS; Lonnerdal, B; Gellera, C; Taroni, FA; Cortopassi, GA
      Frataxin expression rescues mitochondrial dysfunctions in FRDA cells

      HUMAN MOLECULAR GENETICS
    90. Santos, MM; Ohshima, K; Pandolfo, M
      Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm

      HUMAN MOLECULAR GENETICS
    91. Cummings, CJ; Sun, YL; Opal, P; Antalffy, B; Mestril, R; Orr, HT; Dillmann, WH; Zoghbi, HY
      Over-expression of inducible HSP70 chaperone suppresses neuropathology andimproves motor function in SCA1 mice

      HUMAN MOLECULAR GENETICS
    92. Pitts, SA; Kullar, HS; Stankovic, T; Stewart, GS; Last, JIK; Bedenham, T; Armstrong, SJ; Piane, M; Chessa, L; Taylor, AMR; Byrd, PJ
      hMRE11: Genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

      HUMAN MOLECULAR GENETICS
    93. Lebre, AS; Jamot, L; Takahashi, J; Spassky, N; Leprince, C; Ravise, N; Zander, C; Fujigasaki, H; Kussel-Andermann, P; Duyckaerts, C; Camonis, JH; Brice, A
      Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions

      HUMAN MOLECULAR GENETICS
    94. Pearce, AK; Humphrey, TC
      Integrating stress-response and cell-cycle checkpoint pathways

      TRENDS IN CELL BIOLOGY
    95. Winter, DB; Gearhart, PJ
      Altered spectra of hypermutation in DNA repair-deficient mice

      PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    96. Sonoda, E; Morrison, C; Yamashita, YM; Takata, M; Takeda, S
      Reverse genetic studies of homologous DNA recombination using the chicken B-lymphocyte line, DT40

      PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
    97. Gurley, KE; Kemp, CJ
      Synthetic lethality between mutation in Atm and DNA-PKcs during murine embryogenesis

      CURRENT BIOLOGY
    98. Milner, AD; Dijkerman, HC; Pisella, L; McIntosh, RD; Tilikete, C; Vighetto, A; Rossetti, Y
      Grasping the past: delay can improve visuomeotor performance

      CURRENT BIOLOGY
    99. Tsukamoto, Y; Taggart, AKP; Zakian, VA
      The role of the Mre11-Rad50-Xrs2 complex in telomerase-mediated lengthening of Saccharomyces cerevisiae telomeres

      CURRENT BIOLOGY
    100. Chan, SWL; Chang, J; Prescott, J; Blackburn, EH
      Altering telomere structure allows telomerase to act in yeast lacking ATM kinases

      CURRENT BIOLOGY


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Documento generato il 22/02/20 alle ore 21:30:52