1. A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia. Issue 2 (20th January 2022) Authors: De Winter, Jonathan; Van de Vondel, Liedewei; Züchner, Stephan; Ortibus, Els; Baets, Jonathan Journal: Annals of neurology Issue: Volume 91:Issue 2(2022) Page Start: 298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis. (7th December 2021) Authors: Longo, Fabiana; De Ritis, Daniele; Miluzio, Annarita; Fraticelli, Davide; Baets, Jonathan; Scarlato, Marina; Santorelli, Filippo M.; Biffo, Stefano; Maltecca, Francesca Journal: Neurology Issue: Volume 97:Number 23(2021) Page Start: e2315 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis. (7th December 2021) Authors: Longo, Fabiana; De Ritis, Daniele; Miluzio, Annarita; Fraticelli, Davide; Baets, Jonathan; Scarlato, Marina; Santorelli, Filippo M.; Biffo, Stefano; Maltecca, Francesca Journal: Neurology Issue: Volume 97:Number 23(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. Issue 11 (31st August 2017) Authors: Fledrich, Robert; Mannil, Manoj; Leha, Andreas; Ehbrecht, Caroline; Solari, Alessandra; Pelayo-Negro, Ana L; Berciano, José; Schlotter-Weigel, Beate; Schnizer, Tuuli J; Prukop, Thomas; Garcia-Angarita, Natalia; Czesnik, Dirk; Haberlová, Jana; Mazanec, Radim; Paulus, Walter; Beissbarth, Tim; Walte... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 88:Issue 11(2017) Page Start: 941 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Charcot–Marie–Tooth disease type 2G redefined by a novel mutation in LRSAM1. Issue 6 (30th September 2016) Authors: Peeters, Kristien; Palaima, Paulius; Pelayo‐Negro, Ana L.; García, Antonio; Gallardo, Elena; García‐Barredo, Rosario; Mateiu, Ligia; Baets, Jonathan; Menten, Björn; De Vriendt, Els; De Jonghe, Peter; Timmerman, Vincent; Infante, Jon; Berciano, José; Jordanova, Albena Journal: Annals of neurology Issue: Volume 80:Issue 6(2016:Dec.) Page Start: 823 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. Issue 5 (9th February 2022) Authors: Yiu, Eppie M; Bray, Paula; Baets, Jonathan; Baker, Steven K; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A; Finkel, Richard S; Haberlová, Jana; Kennedy, Rachel A; Moroni, Isabella; Nicholson, Garth A; Ramchandren, Sindhu; Reilly, Mary M; Rose, Kristy; Shy, Michael E; Siskind... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 5(2022) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). (October 2016) Authors: Hirst, Jennifer; Madeo, Marianna; Smets, Katrien; Edgar, James R.; Schols, Ludger; Li, Jun; Yarrow, Anna; Deconinck, Tine; Baets, Jonathan; Van Aken, Elisabeth; De Bleecker, Jan; Datiles, Manuel B.; Roda, Ricardo H.; Liepert, Joachim; Züchner, Stephan; Mariotti, Caterina; De Jonghe, Peter; Blacks... Journal: Neurology Issue: Volume 2:Number 5(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cover Image, Volume 39, Issue 3. Issue 3 (8th February 2018) Authors: Abbott, Jamie A.; Meyer‐Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel‐Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinós, Carmen... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗