Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

por Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta
Publicado 2023

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

por Hautala, Timo, Chen, Jie, Tervonen, Laura, Partanen, Terhi, Winqvist, Satu, Lehtonen, Johanna, Saarela, Janna, Kraatari, Minna, Kuismin, Outi, Vuorinen, Tytti, Glumoff, Virpi, Åström, Pirjo, Huuskonen, Usko, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko R.J.
Publicado 2020

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

por Partanen, Terhi, Chen, Jie, Lehtonen, Johanna, Kuismin, Outi, Rusanen, Harri, Vapalahti, Olli, Vaheri, Antti, Anttila, Veli-Jukka, Bode, Michaela, Hautala, Nina, Vuorinen, Tytti, Glumoff, Virpi, Kraatari, Minna, Åström, Pirjo, Saarela, Janna, Kauma, Heikki, Lorenzo, Lazaro, Casanova, Jean-Laurent, Zhang, Shen-Ying, Seppänen, Mikko, Hautala, Timo
Publicado 2020