المؤلفون: Urpa, Lea^{Aff1, IDs41431024015813_cor1}, Kurki, Mitja I.^{Aff1, Aff2, Aff3}, Rahikkala, Elisa^{Aff4, Aff5, Aff6}, Hämäläinen, Eija, Salomaa, Veikko, Suvisaari, Jaana, Keski-Filppula, Riikka^{Aff4, Aff5, Aff6}, Rauhala, Merja^{Aff8, Aff9}, Korpi-Heikkilä, Satu^{Aff8, Aff10}, Komulainen-Ebrahim, Jonna^{Aff4, Aff5, Aff11}, Helander, Heli^{Aff4, Aff5, Aff11}, Vieira, Päivi^{Aff4, Aff5, Aff11}, Uusimaa, Johanna^{Aff4, Aff5, Aff11}, Moilanen, Jukka S.^{Aff4, Aff5, Aff6}, Körkkö, Jarmo, Singh, Tarjinder^{Aff12, Aff13, Aff14}, Kuismin, Outi^{Aff1, Aff4, Aff5, Aff6}, Pietiläinen, Olli^{Aff2, Aff15}, Palotie, Aarno^{Aff1, Aff2, Aff3, Aff16, Aff17}, Daly, Mark J.^{Aff1, Aff2, Aff3, Aff16, Aff17}

المصدر: European Journal of Human Genetics. 32(5):576-583

المؤلفون: Koskinen, Sari, Keski-Filppula, Riikka^{Aff2, Aff3}, Alapulli, Heikki, Nieminen, Pekka, Anttonen, Vuokko^{Aff5, Aff6}

المصدر: Clinical Oral Investigations. 23(11):4107-4111

المؤلفون: Kurki, Mitja I.^{Aff1, Aff2, Aff3}, Saarentaus, Elmo, Pietiläinen, Olli^{Aff2, Aff4}, Gormley, Padhraig^{Aff1, Aff2}, Lal, Dennis^{Aff1, Aff2}, Kerminen, Sini, Torniainen-Holm, Minna^{Aff3, Aff5}, Hämäläinen, Eija, Rahikkala, Elisa^{Aff6, Aff7, Aff8}, Keski-Filppula, Riikka^{Aff6, Aff7, Aff8}, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen–Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Männikkö, Minna^{Aff11, Aff12}, Peltonen, Markku, Havulinna, Aki S.^{Aff3, Aff5}, Salomaa, Veikko, Pirinen, Matti, Suvisaari, Jaana, Moilanen, Jukka S.^{Aff6, Aff7, Aff8}, Körkkö, Jarmo, Kuismin, Outi^{Aff3, Aff6, Aff7, Aff8}, Daly, Mark J.^{Aff1, Aff2, Aff3, Aff13, Aff14}, Palotie, Aarno^{Aff1, Aff2, Aff3, Aff13, Aff14}

المصدر: Nature Communications. 10(1)

المؤلفون: Koivuluoma, Susanna, Winqvist, Robert, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka, Pylkäs, Katri^Aff1

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(3):663-664

المؤلفون: Arts, Peer^{Aff1, Aff2}, Simons, Annet, AlZahrani, Mofareh S., Yilmaz, Elanur^{Aff1, Aff4}, AlIdrissi, Eman, van Aerde, Koen J., Alenezi, Njood, AlGhamdi, Hamza A., AlJubab, Hadeel A., Al-Hussaini, Abdulrahman A., AlManjomi, Fahad, Alsaad, Alaa B., Alsaleem, Badr, Andijani, Abdulrahman A., Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal P., van Deuren, Marcel, van der Flier, Michiel^{Aff5, Aff8}, Gerkes, Erica H., Gilissen, Christian, Habazi, Murad K., Hehir-Kwa, Jayne Y.^{Aff1, Aff10}, Henriet, Stefanie S., Hoppenreijs, Esther P., Hortillosa, Sarah, Kerkhofs, Chantal H., Keski-Filppula, Riikka^{Aff13, Aff14}, Lelieveld, Stefan H.^{Aff1, Aff10}, Lone, Khurram, MacKenzie, Marius A., Mensenkamp, Arjen R., Moilanen, Jukka^{Aff13, Aff14}, Nelen, Marcel, ten Oever, Jaap, Potjewijd, Judith, van Paassen, Pieter, Schuurs-Hoeijmakers, Janneke H. M., Simon, Anna, Stokowy, Tomasz, van de Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, van Well, Gijs T. J., Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris A.^{Aff1, Aff20}, van Zelst-Stams, Wendy A. G., Faqeih, Eissa A., van de Veerdonk, Frank L., Netea, Mihai G., Hoischen, Alexander^{Aff1, Aff7, Aff21}

المصدر: Genome Medicine. 11(1)

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المؤلفون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, Mcdonald, Kimberly, Baker, Janice, Bhambhani, Vikas, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Yue, Si, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

مصطلحات موضوعية: Brain Diseases, Vacuolar Proton-Translocating ATPases, Epilepsy, lysosomal disorder, Infant, progressive brain atrophy, Settore MED/04, Settore MED/26, Infantile, Spasms, developmental delay, Adenosine Triphosphate, Phenotype, epileptic encephalopathy, Intellectual Disability, Homeostasis, Humans, Neurology (clinical), Atrophy, ATP6V1A, Child, Lysosomes, Spasms, Infantile

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b392c747a95d16f8cf49c69dbb7da99
http://hdl.handle.net/11573/1649454

المؤلفون: Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C.

المصدر: American Journal of Medical Genetics. Part A; Jan2023, Vol. 191 Issue 1, p135-143, 9p