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Page 1
Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
Fussiger H, Lima PLGSB, Souza PVS, Freua F, Husny ASE, Leão EKEA, Braga-Neto P, Kok F, Lynch DS, Saute JAM, Nóbrega PR. Fussiger H, et al. Among authors: souza pvs. Clin Genet. 2024 Dec;106(6):721-732. doi: 10.1111/cge.14602. Epub 2024 Aug 5. Clin Genet. 2024. PMID: 39099467
O'Sullivan-McLeod syndrome: Unmasking a rare atypical motor neuron disease.
Pinto WBVR, Nunes PP, Lima E Teixeira I, Assis ACD, Naylor FGM, Chieia MAT, Souza PVS, A S B Oliveira. Pinto WBVR, et al. Among authors: souza pvs. Rev Neurol (Paris). 2019 Jan-Feb;175(1-2):81-86. doi: 10.1016/j.neurol.2018.04.009. Epub 2018 Nov 5. Rev Neurol (Paris). 2019. PMID: 30409480
Distal myopathy due to BICD2 mutations.
Souza PVS, Pinto WBVR, Aivazoglou LU, Cardoso FN, Aihara AY, Yamada AF, Naylor FGM, Fernandes ARC, Oliveira ASB. Souza PVS, et al. Clin Neurol Neurosurg. 2018 Feb;165:47-49. doi: 10.1016/j.clineuro.2017.12.023. Epub 2017 Dec 29. Clin Neurol Neurosurg. 2018. PMID: 29306765 No abstract available.
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.
Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.
Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB. Pinto WBVR, et al. Among authors: souza pvs. Rev Neurol (Paris). 2019 Apr;175(4):221-232. doi: 10.1016/j.neurol.2018.04.016. Epub 2019 Mar 4. Rev Neurol (Paris). 2019. PMID: 30846210 Review.
Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes.
Camelo-Filho AE, Silva AMS, Estephan EP, Zambon AA, Mendonça RH, Souza PVS, Pinto WBVR, Oliveira ASB, Dangoni-Filho I, Pouza AFP, Valerio BCO, Zanoteli E. Camelo-Filho AE, et al. Among authors: souza pvs. Front Neurol. 2020 Sep 11;11:1053. doi: 10.3389/fneur.2020.01053. eCollection 2020. Front Neurol. 2020. PMID: 33013676 Free PMC article.
117 results