SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

per Trotta, Luca, Guella, Ilaria, Soldà, Giulia, Sironi, Francesca, Tesei, Silvana, Canesi, Margherita, Pezzoli, Gianni, Goldwurm, Stefano, Duga, Stefano, Asselta, Rosanna
Publicat 2012

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

per Trotta, Luca, Hautala, Timo, Hämäläinen, Sari, Syrjänen, Jaana, Viskari, Hanna, Almusa, Henrikki, Lepisto, Maija, Kaustio, Meri, Porkka, Kimmo, Palotie, Aarno, Seppänen, Mikko, Saarela, Janna
Publicat a Eur J Hum Genet (2016)

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

per Trotta, Luca, Norberg, Anna, Taskinen, Mervi, Béziat, Vivien, Degerman, Sofie, Wartiovaara-Kautto, Ulla, Välimaa, Hannamari, Jahnukainen, Kirsi, Casanova, Jean-Laurent, Seppänen, Mikko, Saarela, Janna, Koskenvuo, Minna, Martelius, Timi
Publicat a Orphanet J Rare Dis (2018)

Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

per Rajamäki, Kristiina, Keskitalo, Salla, Seppänen, Mikko, Kuismin, Outi, Vähäsalo, Paula, Trotta, Luca, Väänänen, Antti, Glumoff, Virpi, Keskitalo, Paula, Kaarteenaho, Riitta, Jartti, Airi, Hautala, Nina, Jackson, Päivi, Nordström, Dan C, Saarela, Janna, Hautala, Timo, Eklund, Kari K, Varjosalo, Markku
Publicat a RMD Open (2018)

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

per Tuovinen, Elina A., Grönholm, Juha, Öhman, Tiina, Pöysti, Sakari, Toivonen, Raine, Kreutzman, Anna, Heiskanen, Kaarina, Trotta, Luca, Toiviainen-Salo, Sanna, Routes, John M., Verbsky, James, Mustjoki, Satu, Saarela, Janna, Kere, Juha, Varjosalo, Markku, Hänninen, Arno, Seppänen, Mikko R. J.
Publicat a J Clin Immunol (2020)

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

per Kalinichenko, Artem, Perinetti Casoni, Giovanna, Dupré, Loïc, Trotta, Luca, Huemer, Jakob, Galgano, Donatella, German, Yolla, Haladik, Ben, Pazmandi, Julia, Thian, Marini, Yüce Petronczki, Özlem, Chiang, Samuel C., Taskinen, Mervi, Hekkala, Anne, Kauppila, Saila, Lindgren, Outi, Tapiainen, Terhi, Kraakman, Michael J., Vettenranta, Kim, Lomakin, Alexis J., Saarela, Janna, Seppänen, Mikko R. J., Bryceson, Yenan T., Boztug, Kaan
Publicat a Blood (2021)

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

per Haapaniemi, Emma M., Kaustio, Meri, Rajala, Hanna L. M., van Adrichem, Arjan J., Kainulainen, Leena, Glumoff, Virpi, Doffinger, Rainer, Kuusanmäki, Heikki, Heiskanen-Kosma, Tarja, Trotta, Luca, Chiang, Samuel, Kulmala, Petri, Eldfors, Samuli, Katainen, Riku, Siitonen, Sanna, Karjalainen-Lindsberg, Marja-Liisa, Kovanen, Panu E., Otonkoski, Timo, Porkka, Kimmo, Heiskanen, Kaarina, Hänninen, Arno, Bryceson, Yenan T., Uusitalo-Seppälä, Raija, Saarela, Janna, Seppänen, Mikko, Mustjoki, Satu, Kere, Juha
Publicat a Blood (2015)