Lena Skoglund

Summary

Affiliation: Uppsala University
Country: Sweden

Publications

  1. ncbi request reprint The tau S305S mutation causes frontotemporal dementia with parkinsonism
    L Skoglund
    Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    Eur J Neurol 15:156-61. 2008
  2. doi request reprint Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation
    Lena Skoglund
    Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    Neurogenetics 10:27-34. 2009
  3. doi request reprint No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration
    Lena Skoglund
    Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, SE 751 85 Uppsala, Sweden
    Dement Geriatr Cogn Disord 28:471-5. 2009
  4. pmc Novel progranulin mutation detected in 2 patients with FTLD
    Lena Skoglund
    Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    Alzheimer Dis Assoc Disord 25:173-8. 2011
  5. doi request reprint Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation
    Alexander Frizell Santillo
    Department of Public Health Geriatrics, Uppsala University, Science Park, Uppsala, Sweden
    Alzheimer Dis Assoc Disord 23:298-300. 2009
  6. ncbi request reprint No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer's disease brain
    Martin Ingelsson
    Harvard Medical School, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
    Acta Neuropathol 112:439-49. 2006
  7. pmc New Alzheimer's disease locus on chromosome 8
    V Giedraitis
    Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    J Med Genet 43:931-5. 2006
  8. ncbi request reprint Clinical and molecular aspects of frontotemporal dementia
    Susanne Froelich-Fabre
    Department of Public Health and Caring Science, Division of Geriatrics, Uppsala University, Uppsala, Sweden
    Neurodegener Dis 1:218-24. 2004
  9. pmc Increased mRNA Levels of TCF7L2 and MYC of the Wnt Pathway in Tg-ArcSwe Mice and Alzheimer's Disease Brain
    Elin S Blom
    Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, 751 85 Uppsala, Sweden
    Int J Alzheimers Dis 2011:936580. 2010

Collaborators

Detail Information

Publications9

  1. ncbi request reprint The tau S305S mutation causes frontotemporal dementia with parkinsonism
    L Skoglund
    Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    Eur J Neurol 15:156-61. 2008
    ..In addition, they support previous studies which demonstrate that the S305S mutation influences the splicing of tau exon 10 and results in an overproduction of 4R tau...
  2. doi request reprint Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation
    Lena Skoglund
    Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    Neurogenetics 10:27-34. 2009
    ..In conclusion, the PGRN Gly35fs mutation causes frontotemporal dementia with variable clinical presentation in a large Swedish family, most likely through nonsense-mediated decay of mutant PGRN mRNA and resulting haploinsufficiency...
  3. doi request reprint No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration
    Lena Skoglund
    Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, SE 751 85 Uppsala, Sweden
    Dement Geriatr Cogn Disord 28:471-5. 2009
    ..In this study, we investigated 39 patients with FTLD, previously found negative for mutations in PGRN and MAPT, for copy number alterations of these 2 genes...
  4. pmc Novel progranulin mutation detected in 2 patients with FTLD
    Lena Skoglund
    Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    Alzheimer Dis Assoc Disord 25:173-8. 2011
    ..From the screening of these 51 FTLD patients, we could also identify the earlier reported mutation Gln130fs, and several coding sequence variants that are most likely nonpathogenic...
  5. doi request reprint Frontotemporal dementia-amyotrophic lateral sclerosis complex is simulated by neurodegeneration with brain iron accumulation
    Alexander Frizell Santillo
    Department of Public Health Geriatrics, Uppsala University, Science Park, Uppsala, Sweden
    Alzheimer Dis Assoc Disord 23:298-300. 2009
    ..Our finding introduces NBIA as a possible cause of FTD and as a differential diagnosis of the FTD-ALS complex...
  6. ncbi request reprint No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer's disease brain
    Martin Ingelsson
    Harvard Medical School, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
    Acta Neuropathol 112:439-49. 2006
    ..In conclusion, this study indicated region-specific and possibly cell-type-specific tau splicing but did not lend any support to overt changes in alternative splicing of tau exon 10 being an underlying factor in AD pathogenesis...
  7. pmc New Alzheimer's disease locus on chromosome 8
    V Giedraitis
    Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    J Med Genet 43:931-5. 2006
    ..Family history is one of the most consistent risk factors for dementia. Therefore, analysis of families with a distinct inheritance pattern of disease can be a powerful approach for the identification of previously unknown disease genes...
  8. ncbi request reprint Clinical and molecular aspects of frontotemporal dementia
    Susanne Froelich-Fabre
    Department of Public Health and Caring Science, Division of Geriatrics, Uppsala University, Uppsala, Sweden
    Neurodegener Dis 1:218-24. 2004
    ..However, tau mutations seem to be a rare cause of disease in the general FTD population. Thus, other genes and/or environmental factors are yet to be identified, which will give further clues to this complex and heterogeneous disorder...
  9. pmc Increased mRNA Levels of TCF7L2 and MYC of the Wnt Pathway in Tg-ArcSwe Mice and Alzheimer's Disease Brain
    Elin S Blom
    Section of Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, 751 85 Uppsala, Sweden
    Int J Alzheimers Dis 2011:936580. 2010
    ..Increased mRNA levels of dihydropyrimidinase-like 3 were observed in AD brain, suggesting that altered Wnt pathway regulation may signify synaptic rearrangement or neurogenesis...