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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
   
   O.T. Njajou et al., "A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis", NAT GENET, 28(3), 2001, pp. 213-214
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
   
   P. Rizzu et al., "Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients", HUM MOL GEN, 9(20), 2000, pp. 3075-3082
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
   
   F.W. Verheijen et al., "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases", NAT GENET, 23(4), 1999, pp. 462-465
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
   
   A.D. Sperfeld et al., "FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizurescaused by a novel mutation", ANN NEUROL, 46(5), 1999, pp. 708-715
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
   
   J.C. van Swieten et al., "Phenotypic variation in hereditary frontotemporal dementia with tau mutations", ANN NEUROL, 46(4), 1999, pp. 617-626
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
   
   V. Bonifati et al., "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", NEUROSCI L, 274(1), 1999, pp. 61-65
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
   
   P. Rizzu et al., "High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands", AM J HU GEN, 64(2), 1999, pp. 414-421
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
   
   M. Hutton et al., "ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17", Nature, 393(6686), 1998, pp. 702-705
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
   
   M.A. Kroos et al., "A NOVEL ACID ALPHA-GLUCOSIDASE MUTATION IDENTIFIED IN A PAKISTANI FAMILY WITH GLYCOGEN-STORAGE-DISEASE TYPE-II", Journal of inherited metabolic disease, 20(4), 1997, pp. 556-558
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
    
    M.M.P. Hermans et al., "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, 3(12), 1994, pp. 2213-2218
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
    
    M. Vanderkraan et al., "DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II", Biochemical and biophysical research communications, 203(3), 1994, pp. 1535-1541