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La ricerca find articoli where soggetti phrase all words 'GAA TRIPLET REPEAT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 18 riferimenti
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    1. Palau, F
      Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    2. Pandolfo, M
      Molecular basis of Friedreich ataxia

      MOVEMENT DISORDERS
    3. Kidd, A; Coleman, R; Whiteford, M; Barron, LH; Simpson, SA; Haites, NE
      Breast cancer in two sisters with Friedreich's ataxia

      EUROPEAN JOURNAL OF SURGICAL ONCOLOGY
    4. Cummings, CJ; Zoghbi, HY
      Trinucleotide repeats: Mechanisms and pathophysiology

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    5. Delatycki, MB; Williamson, R; Forrest, SM
      Friedreich ataxia: an overview

      JOURNAL OF MEDICAL GENETICS
    6. Cossee, M; Durr, A; Schmitt, M; Dahl, N; Trouillas, P; Allinson, P; Kostrzewa, M; Nivelon-Chevallier, A; Gustavson, KH; Kohlschutter, A; Muller, U; Mandel, JL; Brice, A; Koenig, M; Cavalcanti, F; Tammaro, A; De Michele, G; Filla, A; Cocozza, S; Labuda, M; Montermini, L; Poirier, J; Pandolfo, M
      Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes

      ANNALS OF NEUROLOGY
    7. Delatycki, MB; Knight, M; Koenig, M; Cossee, M; Williamson, R; Forrest, SM
      G130V, a common FRDA point mutation, appears to have arisen from a common founder

      HUMAN GENETICS
    8. Pandolfo, M
      Friedreich's ataxia: Clinical aspects and pathogenesis

      SEMINARS IN NEUROLOGY
    9. Alikasifoglu, M; Topaloglu, H; Tuncbilek, E; Ceviz, M; Anar, B; Demir, E; Ozme, S
      Clinical and genetic correlate in childhood onset Friedreich ataxia

      NEUROPEDIATRICS
    10. Delatycki, MB; Paris, DBBP; Gardner, RJM; Nicholson, GA; Nassif, N; Storey, E; MacMillan, JC; Collins, V; Williamson, R; Forrest, SM
      Clinical and genetic study of Friedreich ataxia in an Australian population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    11. Radisky, DC; Babcock, MC; Kaplan, J
      The yeast frataxin homologue mediates mitochondrial iron efflux - Evidencefor a mitochondrial, iron cycle

      JOURNAL OF BIOLOGICAL CHEMISTRY
    12. Pandolfo, M
      Molecular pathogenesis of Friedreich ataxia

      ARCHIVES OF NEUROLOGY
    13. ZUHLKE C; LACCONE F; COSSEE M; KOHLSCHUTTER A; KOENIG M; SCHWINGER E
      MUTATION OF THE START CODON IN THE FRDA1 GENE - LINKAGE ANALYSIS OF 3PEDIGREES WITH THE ATG TO ATT TRANSVERSION PAINTS TO A UNIQUE COMMON ANCESTOR

      Human genetics
    14. PANDOLFO M; MONTERMINI L
      PRENATAL-DIAGNOSIS OF FRIEDREICH ATAXIA

      Prenatal diagnosis
    15. KLOCKGETHER T; EVERT B
      GENES INVOLVED IN HEREDITARY ATAXIAS

      Trends in neurosciences
    16. MACHKHAS H; BIDICHANDANI SI; PATEL PI; HARATI Y
      A MILD CASE OF FRIEDREICH ATAXIA - LYMPHOCYTE AND SURAL NERVE ANALYSIS FOR GAA REPEAT LENGTH REVEALS SOMATIC MOSAICISM

      Muscle & nerve
    17. Pandolfo, M; Montermini, L
      Molecular genetics of the hereditary ataxias

      ADVANCES IN GENETICS, VOL 38
    18. DELATYCKI MB; PARIS D; GARDNER RJM; FORSHAW K; NICHOLSON GA; NASSIF N; WILLIAMSON R; FORREST SM
      SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE

      Journal of Medical Genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/05/20 alle ore 01:22:02