1. Biallelic mutations in sord are a common cause of potentially treatable genetic neuropathy. Issue 6 (27th May 2022) Authors: Cortese, Andrea; Zhu, Yi; Rebelo, Adriana; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J; Bai, Yunhong; Bis-Brewer, Dana M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. (15th December 2020) Authors: Senderek, Jan; Lassuthova, Petra; Kabzińska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Dräger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, D... Journal: Neurology Issue: Volume 95:Number 24(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A. Issue 3 (28th February 2019) Authors: Tao, Feifei; Beecham, Gary W.; Rebelo, Adriana P.; Svaren, John; Blanton, Susan H.; Moran, John J.; Lopez‐Anido, Camila; Morrow, Jasper M.; Abreu, Lisa; Rizzo, Devon; Kirk, Callyn A.; Wu, Xingyao; Feely, Shawna; Verhamme, Camiel; Saporta, Mario A.; Herrmann, David N.; Day, John W.; Sumner, Charlo... Journal: Annals of neurology Issue: Volume 85:Issue 3(2019) Page Start: 316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗