Search Results - "Kurki, Mitja I."

Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses by Als, Thomas D., Kurki, Mitja I., Grove, Jakob, Voloudakis, Georgios, Therrien, Karen, Tasanko, Elisa, Nielsen, Trine Tollerup, Naamanka, Joonas, Veerapen, Kumar, Levey, Daniel F., Bendl, Jaroslav, Bybjerg-Grauholm, Jonas, Zeng, Biao, Demontis, Ditte, Rosengren, Anders, Athanasiadis, Georgios, Bækved-Hansen, Marie, Qvist, Per, Bragi Walters, G., Thorgeirsson, Thorgeir, Stefánsson, Hreinn, Musliner, Katherine L., Rajagopal, Veera M., Farajzadeh, Leila, Thirstrup, Janne, Vilhjálmsson, Bjarni J., McGrath, John J., Mattheisen, Manuel, Meier, Sandra, Agerbo, Esben, Stefánsson, Kári, Nordentoft, Merete, Werge, Thomas, Hougaard, David M., Mortensen, Preben B., Stein, Murray B., Gelernter, Joel, Hovatta, Iiris, Roussos, Panos, Daly, Mark J., Mors, Ole, Palotie, Aarno, Børglum, Anders D.

“…Depression is a common psychiatric disorder and a leading cause of disability worldwide. Here we conducted a genome-wide association study meta-analysis of six…”
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy by Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, Takefumi, Karhu, Thomas, Bizen, Norihisa, Takebayashi, Hirohide, McKee, Shane, Parker, Michael J., Akawi, Nadia, McRae, Jeremy, Hurles, Matthew E., Kuismin, Outi, Kurki, Mitja I., Anttonen, Anna-Kaisa, Tanaka, Keiji, Palotie, Aarno, Waguri, Satoshi, Lehesjoki, Anna-Elina, Komatsu, Masaaki

“…The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to…”
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A multiomic approach to characterize the temporal sequence in Alzheimer's disease-related pathology by Marttinen, Mikael, Paananen, Jussi, Neme, Antonio, Mitra, Vikram, Takalo, Mari, Natunen, Teemu, Paldanius, Kaisa M.A., Mäkinen, Petra, Bremang, Michael, Kurki, Mitja I., Rauramaa, Tuomas, Leinonen, Ville, Soininen, Hilkka, Haapasalo, Annakaisa, Pike, Ian, Hiltunen, Mikko

“…No single-omic approach completely elucidates the multitude of alterations taking place in Alzheimer's disease (AD). Here, we coupled transcriptomic and…”
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Polycystic kidney disease among 4,436 intracranial aneurysm patients from a defined population by Nurmonen, Heidi J, Huttunen, Terhi, Huttunen, Jukka, Kurki, Mitja I, Helin, Katariina, Koivisto, Timo, von Und Zu Fraunberg, Mikael, Jääskeläinen, Juha E, Lindgren, Antti E

“…To define the association of autosomal dominant polycystic kidney disease (ADPKD) with the characteristics of aneurysmal subarachnoid hemorrhage (aSAH) and…”
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland by Kurki, Mitja I., Saarentaus, Elmo, Pietiläinen, Olli, Gormley, Padhraig, Lal, Dennis, Kerminen, Sini, Torniainen-Holm, Minna, Hämäläinen, Eija, Rahikkala, Elisa, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen–Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna, Peltonen, Markku, Havulinna, Aki S., Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S., Körkkö, Jarmo, Kuismin, Outi, Daly, Mark J., Palotie, Aarno

“…The contribution of de novo variants in severe intellectual disability (ID) has been extensively studied whereas the genetics of mild ID has been less…”
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De Novo Aneurysm Formation in Carriers of Saccular Intracranial Aneurysm Disease in Eastern Finland by Lindgren, Antti E, Räisänen, Sari, Björkman, Joel, Tattari, Hanna, Huttunen, Jukka, Huttunen, Terhi, Kurki, Mitja I, Frösen, Juhana, Koivisto, Timo, Jääskeläinen, Juha E, von und zu Fraunberg, Mikael

“…BACKGROUND AND PURPOSE—Formation of new (de novo) aneurysms in patients carrying saccular intracranial aneurysm (sIA) disease has been published, but data from…”
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Secondary hypertension in patients with saccular intracranial aneurysm disease: A population based study by Kotikoski, Satu, Huttunen, Jukka, Huttunen, Terhi J, Helin, Katariina, Frösen, Juhana, Koivisto, Timo, Kurki, Mitja I, von Und Zu Fraunberg, Mikael, Kunnamo, Ilkka, Jääskeläinen, Juha E, Lindgren, Antti E

“…Secondary hypertension is a serious form of hypertension, involving 5% to 10% of all hypertension patients. Hypertension is a risk factor of the saccular…”
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Prevalence of Schizophrenia in Idiopathic Normal Pressure Hydrocephalus by Vanhala, Vasco, Junkkari, Antti, Korhonen, Ville E, Kurki, Mitja I, Hiltunen, Mikko, Rauramaa, Tuomas, Nerg, Ossi, Koivisto, Anne M, Remes, Anne M, Perälä, Jonna, Suvisaari, Jaana, Lehto, Soili M, Viinamäki, Heimo, Soininen, Hilkka, Jääskeläinen, Juha E, Leinonen, Ville

“…Abstract BACKGROUND Idiopathic normal pressure hydrocephalus (iNPH) is a progressive and potentially treatable neurodegenerative disease affecting elderly…”
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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease by Tallgren, Antti, Kager, Leo, O'Grady, Gina, Tuominen, Hannu, Körkkö, Jarmo, Kuismin, Outi, Feucht, Martha, Wilson, Callum, Behunova, Jana, England, Eleina, Kurki, Mitja I, Palotie, Aarno, Hallman, Mikko, Kaarteenaho, Riitta, Laccone, Franco, Boztug, Kaan, Hinttala, Reetta, Uusimaa, Johanna

“…FINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM 618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our…”
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome) by Rahikkala, Elisa, Myllykoski, Matti, Hinttala, Reetta, Vieira, Päivi, Nayebzadeh, Naemeh, Weiss, Simone, Plomp, Astrid S., Bittner, Reginald E., Kurki, Mitja I., Kuismin, Outi, Lewis, Andrea M., Väisänen, Marja-Leena, Kokkonen, Hannaleena, Westermann, Jonne, Bernert, Günther, Tuominen, Hannu, Palotie, Aarno, Aaltonen, Lauri, Yang, Yaping, Potocki, Lorraine, Moilanen, Jukka, van Koningsbruggen, Silvana, Wang, Xia, Schmidt, Wolfgang M., Koivunen, Peppi, Uusimaa, Johanna

“…Purpose A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family…”
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Saccular Intracranial Aneurysms in Children When Both Parents Are Sporadic or Familial Carriers of Saccular Intracranial Aneurysms by Kurtelius, Arttu, Kurki, Mitja I, von Und Zu Fraunberg, Mikael, Väntti, Nelli, Kotikoski, Satu, Nurmonen, Heidi, Koivisto, Timo, Jääskeläinen, Juha E, Lindgren, Antti E

“…To study the penetrance of saccular intracranial aneurysm (IA) disease in children when both parents carry the disease. The Kuopio IA Patient and Family…”
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Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case–control comparison with family members by Räsänen, Joel, Huovinen, Joel, Korhonen, Ville E, Junkkari, Antti, Kastinen, Sami, Komulainen, Simo, Oinas, Minna, Avellan, Cecilia, Frantzen, Janek, Rinne, Jaakko, Ronkainen, Antti, Kauppinen, Mikko, Lönnrot, Kimmo, Perola, Markus, Koivisto, Anne M, Remes, Anne M, Soininen, Hilkka, Hiltunen, Mikko, Helisalmi, Seppo, Kurki, Mitja I, Jääskeläinen, Juha E, Leinonen, Ville

“…Background The pathophysiological basis of idiopathic normal pressure hydrocephalus (iNPH) is still unclear. Previous studies have shown a familial aggregation…”
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Genetic risk load according to the site of intracranial aneurysms by van ʼt Hof, Femke N.G, Kurki, Mitja I, Kleinloog, Rachel, de Bakker, Paul I.W, von und zu Fraunberg, Mikael, Jääskeläinen, Juha E, Gaál, Emília I, Lehto, Hanna, Kivisaari, Riku, Laakso, Aki, Niemelä, Mika, Hernesniemi, Juha, Brouwer, Matthijs C, van de Beek, Diederik, Rinkel, Gabriël J.E, Ruigrok, Ynte M

“…OBJECTIVE:We investigated whether risk alleles of single nucleotide polymorphisms associated with intracranial aneurysm (IA) are enriched in patients with…”
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Genetic associations of protein-coding variants in human disease by Sun, Benjamin B., Kurki, Mitja I., Foley, Christopher N., Mechakra, Asma, Chen, Chia-Yen, Marshall, Eric, Wilk, Jemma B., Chahine, Mohamed, Chevalier, Philippe, Christé, Georges, Palotie, Aarno, Daly, Mark J., Runz, Heiko

“…Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have so far remained…”
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TAFFEL: Independent Enrichment Analysis of gene sets by Kurki, Mitja I, Paananen, Jussi, Storvik, Markus, Ylä-Herttuala, Seppo, Jääskeläinen, Juha E, von Und Zu Fraunberg, Mikael, Wong, Garry, Pehkonen, Petri

“…A major challenge in genomic research is identifying significant biological processes and generating new hypotheses from large gene sets. Gene sets often…”
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Irregular Shape Identifies Ruptured Intracranial Aneurysm in Subarachnoid Hemorrhage Patients With Multiple Aneurysms by Björkman, Joel, Frösen, Juhana, Tähtinen, Olli, Backes, Daan, Huttunen, Terhi, Harju, Jaakko, Huttunen, Jukka, Kurki, Mitja I, von und zu Fraunberg, Mikael, Koivisto, Timo, Manninen, Hannu, Jääskeläinen, Juha E, Lindgren, Antti E

“…BACKGROUND AND PURPOSE—We investigated which aneurysm-related risk factors for rupture best discriminate ruptured versus unruptured saccular intracranial…”
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Epilepsy after aneurysmal subarachnoid hemorrhage: A population-based, long-term follow-up study by Huttunen, Jukka, Kurki, Mitja I, von und zu Fraunberg, Mikael, Koivisto, Timo, Ronkainen, Antti, Rinne, Jaakko, Jääskeläinen, Juha E, Kälviäinen, Reetta, Immonen, Arto

“…OBJECTIVE:The aim was to elucidate the incidence and risk factors of epilepsy after subarachnoid hemorrhage (SAH) from saccular intracranial aneurysm (sIA) in…”
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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability by Urpa, Lea, Kurki, Mitja I, Rahikkala, Elisa, Hämäläinen, Eija, Salomaa, Veikko, Suvisaari, Jaana, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen-Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Uusimaa, Johanna, Moilanen, Jukka S, Körkkö, Jarmo, Singh, Tarjinder, Kuismin, Outi, Pietiläinen, Olli, Palotie, Aarno, Daly, Mark J

“…Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as…”
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The impact of rare protein coding genetic variation on adult cognitive function by Chen, Chia-Yen, Tian, Ruoyu, Ge, Tian, Lam, Max, Sanchez-Andrade, Gabriela, Singh, Tarjinder, Urpa, Lea, Liu, Jimmy Z., Sanderson, Mark, Rowley, Christine, Ironfield, Holly, Fang, Terry, Daly, Mark, Palotie, Aarno, Tsai, Ellen A., Huang, Hailiang, Hurles, Matthew E., Gerety, Sebastian S., Lencz, Todd, Runz, Heiko

“…Compelling evidence suggests that human cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether…”
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Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort by Räsänen, Joel, Heikkinen, Sami, Mäklin, Kiira, Lipponen, Anssi, Kuulasmaa, Teemu, Mehtonen, Juha, Korhonen, Ville E, Junkkari, Antti, Grenier-Boley, Benjamin, Bellenguez, Celine, Oinas, Minna, Avellan, Cecilia, Frantzén, Janek, Kotkansalo, Anna, Rinne, Jaakko, Ronkainen, Antti, Kauppinen, Mikko, von Und Zu Fraunberg, Mikael, Lönnrot, Kimmo, Satopää, Jarno, Perola, Markus, Koivisto, Anne M, Julkunen, Valtteri, Portaankorva, Anne M, Mannermaa, Arto, Soininen, Hilkka, Helisalmi, Seppo, Jääskeläinen, Juha E, Lambert, Jean-Charles, Eide, Per K, Palotie, Aarno, Kurki, Mitja I, Hiltunen, Mikko, Leinonen, Ville

“…Large-scale genome-wide studies of chronic hydrocephalus have been lacking. We conducted a genome-wide association study (GWAS) in normal pressure…”
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