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Results: 1-7 |
Results: 7
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
Authors: 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
Citation: Ot. Njajou et al., A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, NAT GENET, 28(3), 2001, pp. 213-214
Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients
Authors: Rizzu, P Joosse, M Ravid, R Hoogeveen, A Kamphorst, W van Swieten, JC Willemsen, R Heutink, P
Citation: 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
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
Authors: Verheijen, FW Verbeek, E Aula, N Beerens, CEMT Havelaar, AC Joosse, M Peltonen, L Aula, P Galjaard, H van der Spek, PJ Mancini, GMS
Citation: Fw. 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
FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizurescaused by a novel mutation
Authors: Sperfeld, AD Collatz, MB Baier, H Palmbach, M Storch, A Schwarz, J Tatsch, K Reske, S Joosse, M Heutink, P Ludolph, AC
Citation: Ad. 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
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
Authors: van Swieten, JC Stevens, M Rosso, SM Rizzu, P Joosse, M de Koning, I Kamphorst, W Ravid, R Spillantini, MG Niermeijer, MF Heutink, P
Citation: Jc. Van Swieten et al., Phenotypic variation in hereditary frontotemporal dementia with tau mutations, ANN NEUROL, 46(4), 1999, pp. 617-626
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
Authors: 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
Citation: 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
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
Authors: 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
Citation: 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
Risultati: 1-7 |