Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Marijke Joosse"'
Autor:
J. C. van Swieten, Marijke Joosse, Wouter Kamphorst, Maria Grazia Spillantini, Martinus F. Niermeijer, I. de Koning, Sonia M. Rosso, Peter Heutink, Rivka Ravid, Patrizia Rizzu, M. Stevens
Publikováno v:
Annals of Neurology, 46, 617-626. John Wiley & Sons Inc.
Several mutations in the tau gene have been found in families with hereditary frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17). This study is the first attempt to correlate genotype and phenotype in six families with F
Autor:
Stephen W. Scherer, Cathleen Berglund, Marijke J. van Baren, Helen Donnis-Keller, Guido J. Breedveld, Andrea K. Burgess, Anne Hing, Ben A. Oostra, Johanna M. Rommens, Marijke Joosse, J. Zguricas, Henk C. Heus, J. C. Wang, Peter Heutink
Publikováno v:
Genomics, 57, 342-351. Academic Press
Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome
Autor:
W. J. Kleijer, Agnes G. A. Bijvoet, M. P. Verbeet, Marijke Joosse, M. Van De Kraan, Marian A. Kroos, A.J.J. Reuser
Publikováno v:
Biochemical and Biophysical Research Communications. 203:1535-1541
An abnormal 2.3 kb SacI fragment of the human lysosomal alpha-glucosidase gene (GAA) was identified in patients with glycogen storage disease type II. The fragment results from deletion of exon 18 and adjacent parts of intron 17 and 18. The borders o
Autor:
Marian A. Kroos, Serita Mohkamsing, B. Eussen, Wim J. Kleijer, Rob Willemsen, Ben A. Oostra, Marijke Joosse, Esther de Graaff, Arnold J. J. Reuser, M. M. P. Hermans
Publikováno v:
Human Molecular Genetics. 3:2213-2218
Glycogen storage disease type II (GSDII, Pompe's disease) is caused by an autosomal recessive inheritance of lysosomal alpha-glucosidase deficiency. By sequence analysis we have identified the mutations in the lysosomal alpha-glucosidase gene (GAA) o
Autor:
Guido J. Breedveld, Marijke Joosse, Peter Heutink, Anton J.M. Luijsterburg, Marijke J. van Baren, Christl Vermeij-Keers, Ingeborg M. Nieuwenhuizen, Henk C. Heus, Ben A. Oostra
Publikováno v:
Mammalian Genome, 12, 77-79. Springer New York
Autor:
Laura Donker Kaat, Marijke Joosse, D. de Jong, Martinus F. Niermeijer, Peter Heutink, Dennis Dooijes, Wouter Kamphorst, Inge de Koning, John C. van Swieten, Rivka Ravid, Sonia M. Rosso, Yolande A.L. Pijnenburg, Frans Verheij, Cornelia M. van Duijn, H P Kremer, Philip Scheltens, Timo Baks
Publikováno v:
Brain, 126, 2016-2022. Oxford University Press
Brain, 126(9), 2016-2022
Brain, 126, Pt 9, pp. 2016-22
Brain, 126(9), 2016-2022. Oxford University Press
Brain, 126, 2016-22
Rosso, S M, Kaat, L D, Baks, T, Joosse, M, De Koning, I, Pijnenburg, Y, De Jong, D, Dooijes, D, Kamphorst, W, Ravid, R, Niermeijer, M F, Verheij, F, Kremer, H P, Scheltens, P, Van Duijn, C M, Heutink, P & Van Swieten, J C 2003, ' Frontotemporal dementia in The Netherlands : Patient characteristics and prevalence estimates from a population-based study ', Brain, vol. 126, no. 9, pp. 2016-2022 . https://doi.org/10.1093/brain/awg204
Brain, 126(9), 2016-2022
Brain, 126, Pt 9, pp. 2016-22
Brain, 126(9), 2016-2022. Oxford University Press
Brain, 126, 2016-22
Rosso, S M, Kaat, L D, Baks, T, Joosse, M, De Koning, I, Pijnenburg, Y, De Jong, D, Dooijes, D, Kamphorst, W, Ravid, R, Niermeijer, M F, Verheij, F, Kremer, H P, Scheltens, P, Van Duijn, C M, Heutink, P & Van Swieten, J C 2003, ' Frontotemporal dementia in The Netherlands : Patient characteristics and prevalence estimates from a population-based study ', Brain, vol. 126, no. 9, pp. 2016-2022 . https://doi.org/10.1093/brain/awg204
Item does not contain fulltext Since 1994, a population-based study of frontotemporal dementia (FTD) in The Netherlands has aimed to ascertain all patients with FTD, and first prevalence estimates based on 74 patients were reported in 1998. Here, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::466685bd90467b5c1ea138fd641babd7
https://pure.eur.nl/en/publications/7dc47358-986e-4e98-be6a-9738f3b87ccb
https://pure.eur.nl/en/publications/7dc47358-986e-4e98-be6a-9738f3b87ccb
Autor:
Peter Heutink, Giuseppe Meco, Ben A. Oostra, Marijke Joosse, Ferdinando Squitieri, Patrizia Rizzu, Onno Schaap, Pablo Ibanez, Guido J. Breedveld, Vincenzo Bonifati, Marieke C. J. Dekker, Elmar Krieger, Marijke J. van Baren, Nicola Vanacore, Cornelia M. van Duijn, Alexis Brice, Jeroen W.F. van Dongen, John C. van Swieten
Publikováno v:
Science, 299, 256-259. American Association for the Advancement of Science
Science, 299, pp. 256-9
Science, 299, 256-9
Science, 299, pp. 256-9
Science, 299, 256-9
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement
Autor:
Herma C. van der Linde, Simon J. H. Heaney, Ei-ichi Takahashi, Marijke J. van Baren, Mikio Suzuki, Sumihare Noji, Stephen W. Scherer, Dai Ayusawa, Yutaka Nakahori, Nurten A. Akarsu, Toshikatsu Shinka, Ben A. Oostra, Kazuhiko Nakabayashi, Peter Heutink, Taizo Horikoshi, Robert E. Hill, Guido J. Breedveld, Minoru Shibata, Laura A. Lettice, Naoto Endo, Marijke Joosse
Publikováno v:
Proceedings of the National Academy of Sciences of the U.S.A., 99, 7548-7553. National Academy of Sciences
Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation breakpoint in a PPD pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded31843ca71efb5dba3eb927cb69c5f
https://europepmc.org/articles/PMC124279/
https://europepmc.org/articles/PMC124279/
Autor:
I Borrajero Martinez, L Heredero Baute, E A Severijnen, J J Llibre Rodriguez, N Gomez Viera, C M van Duijn, Marijke Joosse, B Marcheco Teruel, A M Bertoli Avella, Peter Heutink
Publikováno v:
Neurogenetics, 4, 97-104. Springer-Verlag
We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d177866301d3b9a536f04690bc4a8427
https://pure.eur.nl/en/publications/435ef90e-7cea-4f68-8ada-a87674bd06f8
https://pure.eur.nl/en/publications/435ef90e-7cea-4f68-8ada-a87674bd06f8
Autor:
Arn M. J. M. van den Maagdenberg, Robert W. Baloh, Marijke Joosse, Nathan A. Caffo, Gisela M. Terwindt, Joseph DeYoung, Roel A. Ophoff, Joost Haan, Michel D. Ferrari, Rune R. Frants, Lodewijk A. Sandkuijl, Maria-Louise Barilla-LaBarca, John P. Atkinson, Nelson B. Freimer, Nancy L. Saccone, Joanna Jen
Publikováno v:
American journal of human genetics. 69(2)
We performed a genomewide search for linkage in an extended Dutch family with hereditary vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with vascular retinopathy are characterized by microangiopathy of the retina, acco