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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: souza pvs. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Leukodystrophy with disorders of sex development due to WT1 mutations.
Souza PVS, Badia BML, Silva LHL, Teixeira CAC, Seneor DD, Marin VDGB, Farias IB, Dias RB, Oliveira ASB, Pinto WBVR. Souza PVS, et al. J Neurol Sci. 2018 Jul 15;390:94-98. doi: 10.1016/j.jns.2018.04.020. Epub 2018 Apr 13. J Neurol Sci. 2018. PMID: 29801916
Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
Escorcio-Bezerra ML, Pinto WBVR, Bichuetti DB, Souza PVS, Nunes RM, Silva LHL, Lima KDF, Manzano GM, Oliveira ASB, Baeta AM. Escorcio-Bezerra ML, et al. Among authors: souza pvs. J Clin Neurosci. 2020 May;75:228-231. doi: 10.1016/j.jocn.2020.03.014. Epub 2020 Mar 19. J Clin Neurosci. 2020. PMID: 32201027
Brazilian registry of patients with porphyria: REBRAPPO study.
Souza PVS, Afonso G, de Rezende Pinto WBV, de Lima Serrano P, de Mattos Lombardi Badia B, Farias IB, Dos Santos Jorge AC, Machado RIL, Pinto IFN, Barros GB, de Oliveira HB, Calil SR, Franz C, Oliveira ASB. Souza PVS, et al. Orphanet J Rare Dis. 2023 Mar 8;18(1):49. doi: 10.1186/s13023-023-02653-1. Orphanet J Rare Dis. 2023. PMID: 36890577 Free PMC article.
118 results