Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Por Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina
Publicado no Neurol Genet (2016)

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Por Anttonen, Anna-Kaisa, Hilander, Taru, Linnankivi, Tarja, Isohanni, Pirjo, French, Rachel L., Liu, Yuchen, Simonović, Miljan, Söll, Dieter, Somer, Mirja, Muth-Pawlak, Dorota, Corthals, Garry L., Laari, Anni, Ylikallio, Emil, Lähde, Marja, Valanne, Leena, Lönnqvist, Tuula, Pihko, Helena, Paetau, Anders, Lehesjoki, Anna-Elina, Suomalainen, Anu, Tyynismaa, Henna
Publicado no Neurology (2015)

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

Por 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
Publicado no Am J Hum Genet (2016)