A complex genomic locus drives mtDNA replicase POLG expression to its disease‐related nervous system regions

por Nikkanen, Joni, Landoni, Juan Cruz, Balboa, Diego, Haugas, Maarja, Partanen, Juha, Paetau, Anders, Isohanni, Pirjo, Brilhante, Virginia, Suomalainen, Anu
Publicado 2017

Genetic background of ataxia in children younger than 5 years in Finland

por Ignatius, Erika, Isohanni, Pirjo, Pohjanpelto, Max, Lahermo, Päivi, Ojanen, Simo, Brilhante, Virginia, Palin, Eino, Suomalainen, Anu, Lönnqvist, Tuula, Carroll, Christopher J.
Publicado 2020

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

por Sainio, Markus T., Välipakka, Salla, Rinaldi, Bruno, Lapatto, Helena, Paetau, Anders, Ojanen, Simo, Brilhante, Virginia, Jokela, Manu, Huovinen, Sanna, Auranen, Mari, Palmio, Johanna, Friant, Sylvie, Ylikallio, Emil, Udd, Bjarne, Tyynismaa, Henna
Publicado 2018