1. GBA‐associated parkinsonism and dementia: beyond α‐synucleinopathies?. (9th November 2015) Authors: Pilotto, A.; Schulte, C.; Hauser, A. K.; Biskup, S.; Munz, M.; Brockmann, K.; Schaeffer, E.; Synofzik, M.; Maetzler, W.; Suenkel, U.; Srulijes, K.; Gasser, T.; Berg, D. Journal: European journal of neurology Issue: Volume 23:Number 3(2016:Mar.) Page Start: 520 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A clinical diagnostic algorithm for early onset cerebellar ataxia. (September 2019) Authors: Brandsma, R.; Verschuuren-Bemelmans, C.C.; Amrom, D.; Barisic, N.; Baxter, P.; Bertini, E.; Blumkin, L.; Brankovic-Sreckovic, V.; Brouwer, O.F.; Bürk, K.; Catsman-Berrevoets, C.E.; Craiu, D.; de Coo, I.F.M.; Gburek, J.; Kennedy, C.; de Koning, T.J.; Kremer, H.P.H.; Kumar, R.; Macaya, A.; Micalizz... Journal: European journal of paediatric neurology Issue: Volume 23:Number 5(2019:Sep.) Page Start: 692 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. FV2 From clinical motor assessments to ecologically valid biomarkers: Real-life gait assessment in cerebellar ataxia. Issue 4 (April 2020) Authors: Seemann, J.; Synofzik, M.; Ilg, W. Journal: Clinical neurophysiology Issue: Volume 131:Issue 4(2020:Apr.) Page Start: e224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. FV 9 Deep Brain Stimulation for targeting tremor and ataxia in SCA 27. (May 2022) Authors: Löffler, M.A.; Cebi, I.; Hormozi, M.; Synofzik, M.; Gharabaghi, A.; Weiss, D. Journal: Clinical neurophysiology Issue: Volume 137(2022) Page Start: e6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Issue 5 (19th April 2017) Authors: Ozes, B.; Karagoz, N.; Schüle, R.; Rebelo, A.; Sobrido, M.‐J.; Harmuth, F.; Synofzik, M.; Pascual, S.I.P.; Colak, M.; Ciftci‐Kavaklioglu, B.; Kara, B.; Ordóñez‐Ugalde, A.; Quintáns, B.; Gonzalez, M.A.; Soysal, A.; Zuchner, S.; Battaloglu, E. Journal: Clinical genetics Issue: Volume 92:Issue 5(2017) Page Start: 534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Issue 5 (21st September 2017) Authors: Bublitz, S.K.; Alhaddad, B.; Synofzik, M.; Kuhl, V.; Lindner, A.; Freiberg, C.; Schmidt, H.; Strom, T.M.; Haack, T.B.; Deschauer, M. Journal: Clinical genetics Issue: Volume 92:Issue 5(2017) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function. Issue 8 (August 2015) Authors: Hedrich, U.B.S.; Syrbe, S.; Riesch, E.; Djémié, T.; Müller, S.; Møller, R.S.; Maher, B.; Hernandez-Hernandez, L.; Synofzik, M.; Caglayan, H.S.; Arslan, M.; Serratosa, J.; Gonzalez, M.; Züchner, S.; Palotie, A.; Suls, A.; De Jonghe, P.; Helbig, I.; Biskup, S.; Wolff, M. Journal: Clinical neurophysiology Issue: Volume 126:Issue 8(2015:Aug.) Page Start: e80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ataxia rating scales are age‐dependent in healthy children. (7th January 2014) Authors: Brandsma, Rick; Spits, Anne H; Kuiper, Marieke J; Lunsing, Roelinka J; Burger, Huibert; Kremer, Hubertus P; Sival, Deborah A; Barisic, N.; Baxter, P.; Brankovic‐Sreckovic, V.; Calabrò, G.E.; Catsman‐Berrevoets, C.; de, IFM; Craiu, D.; Dan, B.; Gburek‐Augustat, J.; Kammoun‐Feki, F.; Kennedy, C.; M... Journal: Developmental medicine & child neurology Issue: Volume 56:Number 6(2014:Jun.) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Slowly progressive LGI1 encephalitis with isolated late‐onset cognitive dysfunction: a treatable mimic of Alzheimer's disease. (May 2016) Authors: Marquetand, J.; van Lessen, M.; Bender, B.; Reimold, M.; Elsen, G.; Stoecker, W.; Synofzik, M. Journal: European journal of neurology Issue: Volume 23:Number 5(2016:May) Page Start: e28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A case of late-onset, thymoma-associated myasthenia gravis with ryanodine receptor and titin antibodies and concomitant granulomatous myositis. Issue 1 (December 2016) Authors: Stefanou, M.; Komorowski, L.; Kade, S.; Bornemann, A.; Ziemann, U.; Synofzik, M. Journal: BMC neurology Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗