1. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. Issue 6 (1st March 2018) Authors: Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Ślado... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Issue 5 (21st September 2020) Authors: Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Škorvánek, Matej; Necpál, Ján; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Su... Journal: Annals of neurology Issue: Volume 88:Issue 5(2020) Page Start: 867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. Issue 7 (July 2019) Authors: Klopstock, Thomas; Tricta, Fernando; Neumayr, Lynne; Karin, Ivan; Zorzi, Giovanna; Fradette, Caroline; Kmieć, Tomasz; Büchner, Boriana; Steele, Hannah E; Horvath, Rita; Chinnery, Patrick F; Basu, Anna; Küpper, Clemens; Neuhofer, Christiane; Kálmán, Bernadette; Dušek, Petr; Yapici, Zuhal; Wilson, ... Journal: Lancet neurology Issue: Volume 18:Issue 7(2019) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia. Issue 2 (18th July 2013) Authors: Sobstyl, Michał; Ząbek, Mirosław; Kmieć, Tomasz; Sławek, Jarosław; Budohoski, Karol P. Journal: Movement disorders Issue: Volume 29:Issue 2(2014) Page Start: 188 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗