Browsing Rinnakkaistallenteet by Subject "C9orf72"

Now showing items 1-7 of 7

    • A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population 

      Rostalski, H; Korhonen, V; Kuulasmaa, T; Solje, E; Krüger, J; Gen, F; Kaivola, K; Eide, PK; Lambert, JC; Julkunen, V; Tienari, PJ; Remes, AM; Leinonen, V; Hiltunen, M; Haapasalo, A (IOS Press, 2021)
      Background: C9orf72 repeat expansion (C9exp) is the most common genetic cause underlying frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). However, detection of the C9exp requires elaborative ...
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    • C9orf72 hexanucleotide repeat expansion leads to altered neuronal and dendritic spine morphology and synaptic dysfunction 

      Huber, Nadine; Hoffmann, Dorit; Giniatullina, Raisa; Rostalski, Hannah; Leskelä, Stina; Takalo, Mari; Natunen, Teemu; Solje, Eino; Remes, Anne M.; Giniatullin, Rashid; Hiltunen, Mikko; Haapasalo, Annakaisa (Elsevier BV, 2022)
      Frontotemporal lobar degeneration (FTLD) comprises a heterogenous group of progressive neurodegenerative syndromes. To date, no validated biomarkers or effective disease-modifying therapies exist for the different clinical ...
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    • Interrelationship between the Levels of C9orf72 and Amyloid-ß Protein Precursor and Amyloid-ß in Human Cells and Brain Samples 

      Leskelä, S; Takalo, M; Marttinen, M; Huber, N; Paananen, J; Mitra, V; Rauramaa, T; Mäkinen, P; Leinonen, V; Soininen, H; Pike, I; Remes, AM; Hiltunen, M; Haapasalo, A (IOS Press, 2018)
      A subset of C9orf72 repeat expansion-carrying frontotemporal dementia patients display an Alzheimer-like decrease in cerebrospinal fluid amyloid-β (Aβ) biomarker levels. We report that downregulation of C9orf72 in non-neuronal ...
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    • Prevalence of immunological diseases in a Finnish frontotemporal lobar degeneration cohort with the C9orf72 repeat expansion carriers and non-carriers 

      Katisko, K; Solje, E; Koivisto, AM; Krüger, J; Kinnunen, T; Hartikainen, P; Helisalmi, S; Korhonen, V; Herukka, S-K; Haapasalo, A; Remes, AM (Elsevier BV, 2018)
      Recent studies have suggested a role for immune dysregulation behind the etiology of frontotemporal lobar degeneration (FTLD). Here, we have investigated the prevalence of immunological diseases in FTLD (N = 196) with and ...
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    • Primary progressive aphasias associated with C9orf72 expansions: Another side of the story 

      Saracino, Dario; Géraudie, Amandine; Remes, Anne M.; Ferrieux, Sophie; Noguès-Lassiaille, Marie; Bottani, Simona; Cipriano, Lorenzo; Houot, Marion; Funkiewiez, Aurélie; Camuzat, Agnès; Rinaldi, Daisy; Teichmann, Marc; Pariente, Jérémie; Couratier, Philippe; Boutoleau-Bretonnière, Claire; Auriacombe, Sophie; Etcharry-Bouyx, Frédérique; Levy, Richard; Migliaccio, Raffaella; Solje, Eino et al (Elsevier BV, 2021)
      C9orf72 repeat expansions are rarely associated with primary progressive aphasias (PPA). In-depth characterization of the linguistic deficits, and the underlying patterns of grey-matter atrophy in PPA associated with the ...
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    • Serum Cathepsin S Levels Do Not Show Alterations in Different Clinical, Neuropathological, or Genetic Subtypes of Frontotemporal Dementia Patients nor in Comparison to Healthy Control Individuals 

      Heikkinen, Sami; Huber, Nadine; Katisko, Kasper; Kokkola, Tarja; Hartikainen, Päivi; Krüger, Johanna; Leinonen, Ville; Korhonen, Ville E; Herukka, Sanna-Kaisa; Remes, Anne M; Borroni, Barbara; Alberici, Antonella; Libri, Ilenia; Solje, Eino; Haapasalo, Annakaisa (IOS Press, 2023)
      Frontotemporal dementia (FTD) can manifest as diverse clinical phenotypes and is frequently caused by mutations in different genes, complicating differential diagnosis. This underlines the urgent need for valid biomarkers. ...

    • The association between frontotemporal lobar degeneration and bullous pemphigoid 

      Katisko, Kasper; Kokkonen, Nina; Krüger, Johanna; Hartikainen, Päivi; Koivisto, Anne; Helisalmi, Seppo; Korhonen, Ville; Kokki, Merja; Tuusa, Jussi; Herukka, Sanna-Kaisa; Solje, Eino; Haapasalo, Annakaisa; Tasanen, Kaisa; Remes, Anne (IOS Press, 2018)
      Recent studies have shown an epidemiological and immunological association between bullous pemphigoid (BP) and several neurological or psychiatric diseases. Here, our aim was for the first time to specify whether an ...
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