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Collagen type VI-related myopathy.
de Souza PVS, Bortholin T, Pinheiro JRS, Naylor FGM, Pinto WBVR, Oliveira ASB. de Souza PVS, et al. Among authors: bortholin t. Pract Neurol. 2017 Oct;17(5):406-407. doi: 10.1136/practneurol-2017-001661. Epub 2017 Jun 3. Pract Neurol. 2017. PMID: 28578317 No abstract available.
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.
de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB. de Souza PVS, et al. Among authors: bortholin t. Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z. Cerebellum. 2017. PMID: 27271711 Review.
Postictal thoracocervicofacial purpura.
de Souza PVS, Bortholin T, de Rezende Pinto WBV, Santos AJ. de Souza PVS, et al. Among authors: bortholin t. Pract Neurol. 2017 Aug;17(4):306. doi: 10.1136/practneurol-2017-001633. Epub 2017 Apr 20. Pract Neurol. 2017. PMID: 28428228 No abstract available.
New genetic causes for complex hereditary spastic paraplegia.
Souza PVS, Bortholin T, Dias RB, Chieia MAT, Burlin S, Naylor FGM, Pinto WBVR, Oliveira ASB. Souza PVS, et al. Among authors: bortholin t. J Neurol Sci. 2017 Aug 15;379:283-292. doi: 10.1016/j.jns.2017.06.019. Epub 2017 Jun 15. J Neurol Sci. 2017. PMID: 28716262
Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation.
Souza PVS, Bortholin T, Naylor FGM, Pinto WBVR, Oliveira ASB. Souza PVS, et al. Among authors: bortholin t. Neuromuscul Disord. 2018 Feb;28(2):169-172. doi: 10.1016/j.nmd.2017.11.008. Epub 2017 Nov 24. Neuromuscul Disord. 2018. PMID: 29277257
Motor neuron disease in inherited neurometabolic disorders.
de Souza PVS, Bortholin T, Naylor FGM, Chieia MAT, de Rezende Pinto WBV, Oliveira ASB. de Souza PVS, et al. Among authors: bortholin t. Rev Neurol (Paris). 2018 Mar;174(3):115-124. doi: 10.1016/j.neurol.2017.06.020. Epub 2017 Nov 8. Rev Neurol (Paris). 2018. PMID: 29128155 Review.
24 results