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La ricerca find articoli where authors phrase all words ' Joosse, M' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 11 riferimenti
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    1. Njajou, OT; Vaessen, N; Joosse, M; Berghuis, B; van Dongen, JWF; Breuning, MH; Snijders, PJLM; Rutten, WPF; Sandkuijl, LA; Oostra, BA; van Duijn, CM; Heutink, P
      A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

      NATURE GENETICS
    2. Rizzu, P; Joosse, M; Ravid, R; Hoogeveen, A; Kamphorst, W; van Swieten, JC; Willemsen, R; Heutink, P
      Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients

      HUMAN MOLECULAR GENETICS
    3. Verheijen, FW; Verbeek, E; Aula, N; Beerens, CEMT; Havelaar, AC; Joosse, M; Peltonen, L; Aula, P; Galjaard, H; van der Spek, PJ; Mancini, GMS
      A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

      NATURE GENETICS
    4. Sperfeld, AD; Collatz, MB; Baier, H; Palmbach, M; Storch, A; Schwarz, J; Tatsch, K; Reske, S; Joosse, M; Heutink, P; Ludolph, AC
      FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizurescaused by a novel mutation

      ANNALS OF NEUROLOGY
    5. van Swieten, JC; Stevens, M; Rosso, SM; Rizzu, P; Joosse, M; de Koning, I; Kamphorst, W; Ravid, R; Spillantini, MG; Niermeijer, MF; Heutink, P
      Phenotypic variation in hereditary frontotemporal dementia with tau mutations

      ANNALS OF NEUROLOGY
    6. Bonifati, V; Joosse, M; Nicholl, DJ; Vanacore, N; Bennett, P; Rizzu, P; Fabbrini, G; Marconi, R; Colosimo, C; Locuratolo, N; Stocchi, F; Bonuccelli, U; De Mari, M; Wenning, G; Vieregge, P; Oostra, B; Meco, G; Heutink, P
      The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronicvariant of the disease-associated H1 haplotype in Italian cases

      NEUROSCIENCE LETTERS
    7. Rizzu, P; Van Swieten, JC; Joosse, M; Hasegawa, M; Stevens, M; Tibben, A; Niermeijer, MF; Hillebrand, M; Ravid, R; Oostra, BA; Goedert, M; van Duijn, CM; Heutink, P
      High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

      AMERICAN JOURNAL OF HUMAN GENETICS
    8. HUTTON M; LENDON CL; RIZZU P; BAKER M; FROELICH S; HOULDEN H; PICKERINGBROWN S; CHAKRAVERTY S; ISAACS A; GROVER A; HACKETT J; ADAMSON J; LINCOLN S; DICKSON D; DAVIES P; PETERSEN RC; STEVENS M; DEGRAAFF E; WAUTERS E; VANBAREN J; HILLEBRAND M; JOOSSE M; KWON JM; NOWOTNY P; CHE LK; NORTON J; MORRIS JC; REED LA; TROJANOWSKI J; BASUN H; LANNFELT L; NEYSTAT M; FAHN S; DARK F; TANNENBERG T; DODD PR; HAYWARD N; KWOK JBJ; SCHOFIELD PR; ANDREADIS A; SNOWDEN J; CRAUFURD D; NEARY D; OWEN F; OOSTRA BA; HARDY J; GOATE A; VANSWIETEN J; MANN D; LYNCH T; HEUTINK P
      ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17

      Nature
    9. KROOS MA; WAITFIELD AE; JOOSSE M; WINCHESTER B; REUSER AJJ; MACDERMOT KD
      A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II

      Journal of inherited metabolic disease
    10. HERMANS MMP; DEGRAAFF E; KROOS MA; MOHKAMSING S; EUSSEN BJ; JOOSSE M; WILLEMSEN R; KLEIJER WJ; OOSTRA BA; REUSER AJJ
      THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II

      Human molecular genetics
    11. VANDERKRAAN M; KROOS MA; JOOSSE M; BIJVOET AGA; VERBEET MP; KLEIJER WJ; REUSER AJJ
      DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II

      Biochemical and biophysical research communications


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/01/21 alle ore 22:14:32