1. Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia. (7th September 2016) Authors: Kurt, Semiha; Cevik, Betul; Aksoy, Durdane; Sahbaz, E. Irmak; Gundogdu Eken, Aslı; Basak, A. Nazli Other Names: Fee Dominic B. Academic Editor. Journal: Case reports in neurological medicine Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020) Authors: Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Issue 6 (12th February 2022) Authors: Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot‐Noël, Léna; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Bric... Journal: Movement disorders Issue: Volume 37:Issue 6(2022) Page Start: 1175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families. (February 2018) Authors: Kocoglu, Cemile; Gundogdu, Asli; Kocaman, Gulsen; Kahraman-Koytak, Pinar; Uluc, Kayihan; Kiziltan, Gunes; Caglayan, Ahmet Okay; Bilguvar, Kaya; Vural, Atay; Basak, A. Nazli Journal: Neurology Issue: Volume 4:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. (2nd March 2021) Authors: Traschütz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schütz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nad... Journal: Neurology Issue: Volume 96:Number 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗