Search Results - "Kiviharju, Anna"

A novel class of somatic mutations in blood detected preferentially in CD8 + cells by Valori, Miko, Jansson, Lilja, Kiviharju, Anna, Ellonen, Pekka, Rajala, Hanna, Awad, Shady Adnan, Mustjoki, Satu, Tienari, Pentti J

“…Abstract Somatic mutations have a central role in cancer but their role in other diseases such as autoimmune disorders is poorly understood. Earlier work has…”
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The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD by Solje, Eino, Aaltokallio, Heidi, Koivumaa-Honkanen, Heli, Suhonen, Noora M, Moilanen, Virpi, Kiviharju, Anna, Traynor, Bryan, Tienari, Pentti J, Hartikainen, Päivi, Remes, Anne M

“…The C9ORF72 expansion is one of the most common genetic etiologies observed with behavioural variant frontotemporal dementia (bvFTD). Revised diagnostic…”
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Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion by Junttila, Anna, Kuvaja, Mari, Hartikainen, Päivi, Siloaho, Maritta, Helisalmi, Seppo, Moilanen, Virpi, Kiviharju, Anna, Jansson, Lilja, Tienari, Pentti J., Remes, Anne Marja, Herukka, Sanna-Kaisa

“…Background: TDP-43 is the main protein component of ubiquitinated inclusions in a subgroup of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral…”
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C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition by Kaivola, Karri, Kiviharju, Anna, Jansson, Lilja, Rantalainen, Ville, Eriksson, Johan G., Strandberg, Timo E., Laaksovirta, Hannu, Renton, Alan E., Traynor, Bryan J., Myllykangas, Liisa, Tienari, Pentti J.

“…The hexanucleotide repeat expansion in C9orf72 is a common cause of amyotrophic lateral sclerosis/frontotemporal dementia and also rarely found in other…”
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Putative risk alleles for LATE‐NC with hippocampal sclerosis in population‐representative autopsy cohorts by Hokkanen, Suvi R. K., Kero, Mia, Kaivola, Karri, Hunter, Sally, Keage, Hannah A. D., Kiviharju, Anna, Raunio, Anna, Tienari, Pentti J., Paetau, Anders, Matthews, Fiona E., Fleming, Jane, Graff, Caroline, Polvikoski, Tuomo M., Myllykangas, Liisa, Brayne, Carol

“…Limbic‐predominant age‐related TAR‐DNA‐binding protein‐43 (TDP‐43) encephalopathy with hippocampal sclerosis pathology (LATE‐NC + HS) is a neurodegenerative…”
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Genetics of dementia in a Finnish cohort by Pasanen, Petra, Myllykangas, Liisa, Pöyhönen, Minna, Kiviharju, Anna, Siitonen, Maija, Hardy, John, Bras, Jose, Paetau, Anders, Tienari, Pentti J, Guerreiro, Rita, Verkkoniemi-Ahola, Auli

“…Alzheimer's disease (AD) and frontotemporal dementia (FTD) are the two most common neurodegenerative dementias. Variants in APP, PSEN1 and PSEN2 are typically…”
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Heterozygous TYROBP deletion (PLOSLFIN) is not a strong risk factor for cognitive impairment by Kaivola, Karri, Jansson, Lilja, Saarentaus, Elmo, Kiviharju, Anna, Rantalainen, Ville, Eriksson, Johan G., Strandberg, Timo E., Polvikoski, Tuomo, Myllykangas, Liisa, Tienari, Pentti J.

“…Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called…”
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P1‐128: C9ORF72 EXPANSION DOES NOT HAVE EFFECTS ON CSF TDP‐43 LEVELS IN FTLD PATIENTS by Kämäläinen, Anna, Kuvaja, Mari, Hartikainen, Päivi, Siloaho, Maritta, Helisalmi, Seppo, Moilanen, Virpi, Kiviharju, Anna, Jansson, Lilja, Tienari, Pentti J., Remes, Anne M., Herukka, Sanna‐Kaisa

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C9ORF72 EXPANSION DOES NOT HAVE EFFECTS ON CSF TDP-43 LEVELS IN FTLD PATIENTS by Kämäläinen, Anna, Kuvaja, Mari, Hartikainen, Päivi, Siloaho, Maritta, Helisalmi, Seppo, Moilanen, Virpi, Kiviharju, Anna, Jansson, Lilja, Tienari, Pentti J, Remes, Anne M, Herukka, Sanna-Kaisa

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The pathogenesis of amyotrophic lateral sclerosis and frontal lobe dementia is unraveling: pathology of the nucleus and glutamate sensitivity by Tienari, Pentti, Kiviharju, Anna, Valori, Miko, Lindholm, Dan, Laaksovirta, Hannu

“…The mechanisms of neurodegenerative diseases have begun to become unraveled, thanks to the progress in stem cell research. The repeat expansion in the C90RF72…”
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