CADASIL and CARASIL von Tikka, Saara, Baumann, Marc, Siitonen, Maija, Pasanen, Petra, Pöyhönen, Minna, Myllykangas, Liisa, Viitanen, Matti, Fukutake, Toshio, Cognat, Emmanuel, Joutel, Anne, Kalimo, Hannu

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APOE ε4 associates with increased risk of severe COVID-19, cerebral microhaemorrhages and post-COVID mental fatigue: a Finnish biobank, autopsy and clinical study von Kurki, Samu N, Kantonen, Jonas, Kaivola, Karri, Hokkanen, Laura, Mäyränpää, Mikko I, Puttonen, Henri, Martola, Juha, Pöyhönen, Minna, Kero, Mia, Tuimala, Jarno, Carpén, Olli, Kantele, Anu, Vapalahti, Olli, Tiainen, Marjaana, Tienari, Pentti J, Kaila, Kai, Hästbacka, Johanna, Myllykangas, Liisa

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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy von 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

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Novel TMEM173 Mutation and the Role of Disease Modifying Alleles von Keskitalo, Salla, Haapaniemi, Emma, Einarsdottir, Elisabet, Rajamäki, Kristiina, Heikkilä, Hannele, Ilander, Mette, Pöyhönen, Minna, Morgunova, Ekaterina, Hokynar, Kati, Lagström, Sonja, Kivirikko, Sirpa, Mustjoki, Satu, Eklund, Kari, Saarela, Janna, Kere, Juha, Seppänen, Mikko R J, Ranki, Annamari, Hannula-Jouppi, Katariina, Varjosalo, Markku

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Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients von Tikka, Saara, Mykkänen, Kati, Ruchoux, Marie-Magdeleine, Bergholm, Robert, Junna, Maija, Pöyhönen, Minna, Yki-Järvinen, Hannele, Joutel, Anne, Viitanen, Matti, Baumann, Marc, Kalimo, Hannu

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Loss of SUFU Function in Familial Multiple Meningioma von Aavikko, Mervi, Li, Song-Ping, Saarinen, Silva, Alhopuro, Pia, Kaasinen, Eevi, Morgunova, Ekaterina, Li, Yilong, Vesanen, Kari, Smith, Miriam J., Evans, D. Gareth R., Pöyhönen, Minna, Kiuru, Anne, Auvinen, Anssi, Aaltonen, Lauri A., Taipale, Jussi, Vahteristo, Pia

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TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients von Foddis, Marco, Blumenau, Sonja, Holtgrewe, Manuel, Paquette, Kimberly, Westra, Kaitlyn, Alonso, Isabel, Macario, Maria do Carmo, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Santos, Mariana, Guven, Gamze, Bilgic, Basar, Bras, Jose, Beule, Dieter, Dirnagl, Ulrich, Guerreiro, Rita, Sassi, Celeste

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A novel α-synuclein mutation A53E associated with atypical multiple system atrophy and Parkinson's disease-type pathology von Pasanen, Petra, Myllykangas, Liisa, Siitonen, Maija, Raunio, Anna, Kaakkola, Seppo, Lyytinen, Jukka, Tienari, Pentti J, Pöyhönen, Minna, Paetau, Anders

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Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish European, Finnish, and... von Kandolin, Miska, Pöyhönen, Minna, Jakkula, Eveliina

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SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population von Pasanen, Petra, Palin, Eino, Pohjolan-Pirhonen, Risto, Pöyhönen, Minna, Rinne, Juha O, Päivärinta, Markku, Martikainen, Mika H, Kaasinen, Valtteri, Hietala, Marja, Gardberg, Maria, Saukkonen, Anna Maija, Eerola-Rautio, Johanna, Kaakkola, Seppo, Lyytinen, Jukka, Tienari, Pentti J, Paetau, Anders, Suomalainen, Anu, Myllykangas, Liisa

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CADASIL Mutations and shRNA Silencing of NOTCH3 Affect Actin Organization in Cultured Vascular Smooth Muscle Cells von Tikka, Saara, Ng, Yan Peng, Maio, Giuseppe Di, Mykkänen, Kati, Siitonen, Maija, Lepikhova, Tatiana, Pöyhönen, Minna, Viitanen, Matti, Virtanen, Ismo, Kalimo, Hannu, Baumann, Marc

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Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland von Uusitalo, Elina, Leppävirta, Jussi, Koffert, Anna, Suominen, Sakari, Vahtera, Jussi, Vahlberg, Tero, Pöyhönen, Minna, Peltonen, Juha, Peltonen, Sirkku

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Large genomic rearrangements and germline epimutations in Lynch syndrome von Gylling, Annette, Ridanpää, Maaret, Vierimaa, Outi, Aittomäki, Kristiina, Avela, Kristiina, Kääriäinen, Helena, Laivuori, Hannele, Pöyhönen, Minna, Sallinen, Satu‐Leena, Wallgren‐Pettersson, Carina, Järvinen, Heikki J., Mecklin, Jukka‐Pekka, Peltomäki, Paivi

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The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients von Luukkonen, Tiia Maria, Kiiski, Ville, Ahola, Maria, Mandelin, Johanna, Virtanen, Hannele, Pöyhönen, Minna, Kivirikko, Sirpa, Surakka, Ida, Reitamo, Sakari, Palotie, Aarno, Heliövaara, Markku, Jakkula, Eveliina, Remitz, Anita

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Prevalence of neurofibromatosis type 1 in the Finnish population von Kallionpää, Roope A, Uusitalo, Elina, Leppävirta, Jussi, Pöyhönen, Minna, Peltonen, Sirkku, Peltonen, Juha

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Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1 von Uusitalo, Elina, Rantanen, Matti, Kallionpää, Roope A, Pöyhönen, Minna, Leppävirta, Jussi, Ylä-Outinen, Heli, Riccardi, Vincent M, Pukkala, Eero, Pitkäniemi, Janne, Peltonen, Sirkku, Peltonen, Juha

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Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity von Kansikas, Minttu, Vähätalo, Laura, Kantelinen, Jukka, Kasela, Mariann, Putula, Jaana, Døhlen, Anni, Paloviita, Pauliina, Kärkkäinen, Emmi, Lahti, Niklas, Arnez, Philippe, Kilpinen, Sami, Alcala-Repo, Beatriz, Pylvänäinen, Kirsi, Pöyhönen, Minna, Peltomäki, Päivi, Järvinen, Heikki J, Seppälä, Toni T, Renkonen-Sinisalo, Laura, Lepistö, Anna, Mecklin, Jukka-Pekka, Nyström, Minna

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Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) von Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Myllykangas, Liisa, Pöyhönen, Minna

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Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients von TUOMINEN, Susanna, MIAO, Qing, KURKI, Timo, TUISKU, Seppo, PÖYHÖNEN, Minna, KALIMO, Hannu, VIITANEN, Matti, SIPILÄ, Hannu T, BERGMAN, Jörgen, RINNE, Juha O

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Genetic analysis reveals novel variants for vascular cognitive impairment von Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Bras, Jose, Roine, Susanna, Pöyhönen, Minna, Guerreiro, Rita, Myllykangas, Liisa

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