1. Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature. (3rd November 2016) Authors: Trouillard, Oriane; Koht, Jeanette; Gerstner, Thorsten; Moland, Siri; Depienne, Christel; Dusart, Isabelle; Méneret, Aurélie; Ruiz, Marta; Dubacq, Caroline; Roze, Emmanuel Editors: Louis, Elan D. Journal: Tremor and other hyperkinetic movements Issue: Volume 6(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021) Authors: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr... Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Issue 23 (10th July 2021) Authors: Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; Mc... Journal: Human molecular genetics Issue: Volume 30:Issue 23(2021) Page Start: 2300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Sleep disturbances in Norwegian children with fetal alcohol spectrum disorders (FASD) with and without a diagnosis of attention‐deficit hyperactivity disorder or epilepsy. (21st February 2023) Authors: Gerstner, Thorsten; Sævareid, Hans Inge; Johnsen, Åse Ribe; Løhaugen, Gro; Skranes, Jon Journal: Alcoholism Issue: Volume 47:Number 3(2023) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗