1. A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Issue 5 (15th December 2017) Authors: Szczałuba, K.; Szymańska, K.; Rydzanicz, M.; Ciara, E.; Walczak, A.; Piekutowska‐Abramczuk, D.; Kosińska, J.; Jacoszek, A.; Czerska, K.; Biernacka, A.; Laure‐Kamionowska, M.; Gasperowicz, P.; Pronicka, E.; Płoski, R. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. (28th July 2013) Authors: Piekutowska-Abramczuk, D.; Pronicki, M.; Strawa, K.; Karkucińska‐Więckowska, A.; Szymańska‐Dębińska, T.; Fidziańska, A.; Więckowski, M.R.; Jurkiewicz, D.; Ciara, E.; Jankowska, I.; Sykut‐Cegielska, J.; Krajewska‐Walasek, M.; Płoski, R.; Pronicka, E. Journal: Clinical genetics Issue: Volume 85:Number 6(2014:Jun.) Page Start: 573 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗