Explanipedia

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty Open

Jonathan K. L. Mak, Chenxi Qin, M J T Krüger, Anna Kuukka, Aarno Palotie , et al. · 2025

Frailty is a clinically relevant phenotype with notable gaps in our understanding of its etiology. Using the Hospital Frailty Risk Score (HFRS) to define frailty, we performed a genome-wide association study in FinnGen ( N = 500,737), repl…

Narcolepsy as a potential risk factor for Schizophrenia Open

Reyhane Eghtedarian, Anniina Tervi, Samuel E. Jones, Aarno Palotie, Mark Daly , et al. · 2025

Computerized decision support to optimally funnel patients through the diagnostic pathway Open

Aniek M. van Gils, Antti Tolonen, Argonde C. van Harten, Juha Koikkalainen, Frederik Barkhof , et al. · 2024

Background The increasing dementia prevalence and potential introduction of disease‐modifying therapies (DMTs) highlight the need for efficient diagnostic pathways. Clear recommendations to guide the choice of diagnostic tests are lacking …

Incidence and Prevalence of Early Onset Dementia in Finland Open

Eino Solje, Mikko Aaltonen, Kalle Aho, Sami Heikkinen, Ave Kivisild , et al. · 2024

Background Early onset dementia (EOD) forms distinct economic, societal, and human burdens on patients, their families, the healthcare system, and society, differing from those associated with late onset dementia. However, epidemiological …

Computerized decision support to optimally funnel patients through the diagnostic pathway for dementia Open

Aniek M. van Gils, Antti Tolonen, Argonde C. van Harten, Sinthujah Vigneswaran, Frederik Barkhof , et al. · 2024

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations Open

Ville Salo, Juhani Määttä, Eeva Sliz, Aarno Palotie, Mark Daly , et al. · 2024

Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding…

Genetic Susceptibility to Acute Viral Bronchiolitis Open

Anu Pasanen, Minna K. Karjalainen, Matti Korppi, Mikko Hallman, Mika Rämet , et al. · 2024

Background Acute viral bronchiolitis is a major cause of infant hospitalizations worldwide. Childhood bronchiolitis is considered a risk factor for asthma, suggesting shared genetic factors and biological pathways. Genetic risk loci may pr…

The relative brain signal variability increases in the behavioral variant of frontotemporal dementia and Alzheimer’s disease but not in schizophrenia Open

Timo Tuovinen, Jani Häkli, Riikka Rytty, Johanna Krüger, Vesa Korhonen , et al. · 2024

Overlapping symptoms between Alzheimer’s disease (AD), behavioral variant of frontotemporal dementia (bvFTD), and schizophrenia (SZ) can lead to misdiagnosis and delays in appropriate treatment, especially in cases of early-onset dementia.…

Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women Open

Nina Mars, Sini Kerminen, Max Tamlander, Matti Pirinen, Eveliina Jakkula , et al. · 2024

PURPOSE Family history (FH) and pathogenic variants (PVs) are used for guiding risk surveillance in selected high-risk women but little is known about their impact for breast cancer screening on population level. In addition, polygenic ris…

High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases Open

Omar Youssef, Anu Loukola, Yossra H.S. Zidi-Mouaffak, Max Tamlander, Sanni Ruotsalainen , et al. · 2024

Formalin-fixed paraffin-embedded (FFPE) tissues stored in biobanks and pathology archives are a vast but underutilized source for molecular studies on different diseases. Beyond being the "gold standard" for preservation of diagnostic huma…

NTHL1 is a recessive cancer susceptibility gene Open

Anna Nurmi, Liisa M. Pelttari, Johanna I. Kiiski, Sofia Khan, Mika Nurmikolu , et al. · 2023

In search of novel breast cancer (BC) risk variants, we performed a whole-exome sequencing and variant analysis of 69 Finnish BC patients as well as analysed loss-of-function variants identified in DNA repair genes in the Finns from the Ge…

Utility of the INECO Frontal Screening and the Frontal Assessment Battery in detecting executive dysfunction in early-onset cognitive impairment and dementia Open

Anna-Leena Heikkinen, Veera Tikkanen, Tuomo Hänninen, Christer Hublin, Anne M. Koivisto , et al. · 2023

Objective: The INECO Frontal Screening (IFS) and the Frontal Assessment Battery (FAB) are executive dysfunction (ED) screening tools that can distinguish patients with neurodegenerative disorders from healthy controls and, to some extent, …

Correlation of fatigue with disability and accelerometer-measured daily physical activity in patients with relapsing-remitting MS Open

Marko Luostarinen, Anne M. Remes, Pirjo Urpilainen, Saara Takala, Mika Venojärvi · 2023

Fatigue and health-related quality of life depend on the disability status and clinical course in RRMS Open

Henrik Ahvenjärvi, Marja Niiranen, Sakari Simula, Päivi Hämäläinen, Heljä‐Marja Surcel , et al. · 2023

Individuals with severe RRMS and higher EDSS scores are more prone to experience fatigue and lower HRQoL. In addition, fatigue and lower HRQoL are more commonly observed among RRMS patients with older age at disease onset and in those with…

The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections Open

Samuel E. Jones, Fahrisa I. Maisha, Satu Strausz, Vilma Lammi, Brian E. Cade , et al. · 2023

Hypothalamic volumes predict sleep dysfunction in genetic frontotemporal dementia Open

Paul Best, Martina Bocchetta, Jonathan D. Rohrer, James B. Rowe, Barbara Borroni , et al. · 2023

Background Sleep dysfunction is common in neurodegenerative disorders, however, its neural correlates, remain poorly characterized in genetic frontotemporal dementia (FTD). Atrophy in two hypothalamic nuclei, the suprachiasmatic nucleus an…

Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals Open

Richard Ågren, Snehal Patil, Xiang Zhou, Aarno Palotie, Mark J. Daly , et al. · 2023

Dupuytren's disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted by Dupuytren's disease, up to ∼30% of men over 60 years suffer from this condition in n…

Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study Open

Eliza C. Miller, Anni Kauko, Sarah E. Tom, Hannele Laivuori, Teemu Niiranen , et al. · 2023

BACKGROUND: Adverse pregnancy outcomes (APO) contribute to higher risk of maternal cerebrovascular disease, but longitudinal data that include APO and stroke timing are lacking. We hypothesized that APO are associated with younger age at f…

The Cognitive Function at Work Questionnaire in memory clinic setting: a validation study Open

Anna-Leena Heikkinen, Teemu Paajanen, Christer Hublin, Teppo Valtonen, Johanna Krüger , et al. · 2023

The results of the study support the validity and reliability characteristics of the CFWQ in a memory clinic setting. The instrument is easy-to-use and has clinical utility in capturing the subjective cognitive symptoms of patients active …

Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia Open

Aurélie Bussy, Jake Levy, Tristin Best, Raihaan Patel, Lani Cupo , et al. · 2023

Recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule‐associated protein tau ( MAPT ), progranulin ( GRN ) and chromosome 9 open reading …

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata Open

Eeva Sliz, Jaakko Tyrmi, Nilüfer Rahmioğlu, Krina T. Zondervan, Christian M. Becker , et al. · 2023

Incidence of Syndromes Associated With Frontotemporal Lobar Degeneration in 9 European Countries Open

Giancarlo Logroscino, Marco Piccininni, Caroline Graff, Orla Hardiman, Albert C. Ludolph , et al. · 2023

Importance Diagnostic incidence data for syndromes associated with frontotemporal lobar degeneration (FTLD) in multinational studies are urgent in light of upcoming therapeutic approaches. Objective To assess the incidence of FTLD across E…

Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype Open

Kasper Katisko, Nadine Huber, Tarja Kokkola, Päivi Hartikainen, Johanna Krüger , et al. · 2022

Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease Open

Anita Korpioja, Johanna Krüger, Anri Hurme‐Niiranen, Eino Solje, Kasper Katisko , et al. · 2022

Cognitive impairment is a feature in patients with the biallelic (AAGGG)_exp, but the pathogenic expansion seems to be rare in patients with dementia. Studies on patients with diverse phenotypes would be useful to further explore…

Modifiable potential risk factors in familial and sporadic frontotemporal dementia Open

Helmi Soppela, Kasper Katisko, Yasmine Gadola, Johanna Krüger, Päivi Hartikainen , et al. · 2022

Objective Only a few studies have evaluated modifiable risk factors for frontotemporal dementia (FTD). Here, we evaluated several modifiable factors and their association with disease phenotype, genotype, and prognosis in a large study pop…

Grey matter atrophy in patients with benign multiple sclerosis Open

Marja Niiranen, Juha Koikkalainen, Jyrki Lötjönen, Tuomas Selander, Antti Cajanus , et al. · 2022

Background Brain atrophy appears during the progression of multiple sclerosis (MS) and is associated with the disability caused by the disease. Methods We investigated global and regional grey matter (GM) and white matter (WM) volumes, WM …

Brainstem atrophy is linked to extrapyramidal symptoms in frontotemporal dementia Open

Sami Heikkinen, Antti Cajanus, Kasper Katisko, Päivi Hartikainen, Ritva Vanninen , et al. · 2022

Extrapyramidal (EP) symptoms are a known feature in a subpopulation of patients with behavioral variant frontotemporal dementia (bvFTD). Concomitant EP symptoms with FTD-like neuropsychiatric symptoms are also core features in progressive …

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes Open

Max Tamlander, Nina Mars, Matti Pirinen, Aarno Palotie, Mark J. Daly , et al. · 2022

Cerebrospinal fluid biomarkers that reflect clinical symptoms in idiopathic normal pressure hydrocephalus patients Open

Heikki Lukkarinen, Anna Jeppsson, Carsten Wikkelsø, Kaj Blennow, Henrik Zetterberg , et al. · 2022

NDUFA1 p.Gly32Arg variant in early-onset dementia Open

Samuli Huttula, Henri Väyrynen, Seppo Helisalmi, Laura Kytövuori, Laura Luukkainen , et al. · 2022

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