1. A neuropathy‐associated kinesin KIF1A mutation hyper‐stabilizes the motor‐neck interaction during the ATPase cycle. (8th February 2022) Authors: Morikawa, Manatsu; Jerath, Nivedita U; Ogawa, Tadayuki; Morikawa, Momo; Tanaka, Yosuke; Shy, Michael E; Zuchner, Stephan; Hirokawa, Nobutaka Journal: EMBO journal Issue: Volume 41:Number 5(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel missense mutation of CMT2P alters transcription machinery. Issue 6 (27th September 2016) Authors: Hu, Bo; Arpag, Sezgi; Zuchner, Stephan; Li, Jun Journal: Annals of neurology Issue: Volume 80:Issue 6(2016:Dec.) Page Start: 834 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. (February 2018) Authors: Mendoza-Ferreira, Natalia; Coutelier, Marie; Janzen, Eva; Hosseinibarkooie, Seyyedmohsen; Löhr, Heiko; Schneider, Svenja; Milbradt, Janine; Karakaya, Mert; Riessland, Markus; Pichlo, Christian; Torres-Benito, Laura; Singleton, Andrew; Zuchner, Stephan; Brice, Alexis; Durr, Alexandra; Hammerschmid... 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) ↗
4. Conduction block and temporal dispersion in a SIGMAR1‐related neuropathy. Issue 4 (1st November 2022) Authors: Frezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro José; Figueiredo, Fernanda Barbosa; Zuchner, Stephan; Reilly, Mary M; Marques, Wilson Journal: Journal of the peripheral nervous system Issue: Volume 27:Issue 4(2022) Page Start: 316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. Issue 12 (December 2016) Authors: Vallat, Jean-Michel; Nizon, Mathilde; Magee, Alex; Isidor, Bertrand; Magy, Laurent; Péréon, Yann; Richard, Laurence; Ouvrier, Robert; Cogné, Benjamin; Devaux, Jérôme; Zuchner, Stephan; Mathis, Stéphane Journal: Journal of neuropathology and experimental neurology Issue: Volume 75:Issue 12(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia. Issue 6 (5th April 2013) Authors: Varga, Rita‐Eva; Schüle, Rebecca; Fadel, Hicham; Valenzuela, Irene; Speziani, Fiorella; Gonzalez, Michael; Rudenskaia, Galina; Nürnberg, Gudrun; Thiele, Holger; Altmüller, Janine; Alvarez, Victoria; Gamez, Josep; Garbern, James Y.; Nürnberg, Peter; Zuchner, Stephan; Beetz, Christian Journal: Human mutation Issue: Volume 34:Issue 6(2013:Jun.) Page Start: 860 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Doublet‐Mediated DNA Rearrangement—A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. Issue 3 (13th January 2017) Authors: Jahic, Amir; Hinreiner, Sophie; Emberger, Werner; Hehr, Ute; Zuchner, Stephan; Beetz, Christian Journal: Human mutation Issue: Volume 38:Issue 3(2017) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. (1st December 2015) Authors: Whittaker, Roger G.; Herrmann, David N.; Bansagi, Boglarka; Hasan, Bashar Awwad Shiekh; Lofra, Robert Muni; Logigian, Eric L.; Sowden, Janet E.; Almodovar, Jorge L.; Littleton, J. Troy; Zuchner, Stephan; Horvath, Rita; Lochmüller, Hanns Journal: Neurology Issue: Volume 85:Number 22(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China. (26th July 2021) Authors: Xie, Yongzhi; Lin, Zhiqiang; Liu, Lei; Li, Xiaobo; Huang, Shunxiang; Zhao, Huadong; Wang, Binghao; Zeng, Sen; Cao, Wanqian; Li, Lu; Zhu, Xiying; Huang, Siwei; Yang, Honglan; Wang, Mengli; Hu, Zhengmao; Wang, Junling; Guo, Jifeng; Shen, Lu; Jiang, Hong; Zuchner, Stephan Journal: European journal of neurology Issue: Volume 28:Number 11(2021) Page Start: 3774 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation. Issue 3 (5th December 2019) Authors: Stregapede, Fabrizia; Travaglini, Lorena; Rebelo, Adriana P.; Cintra, Vivian Pedigone; Bellacchio, Emanuele; Bosco, Luca; Alfieri, Paolo; Pro, Stefano; Zuchner, Stephan; Bertini, Enrico; Nicita, Francesco Journal: Clinical genetics Issue: Volume 97:Issue 3(2020) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗