de Paiva AR - Search Results

1

Multiple endocrine neoplasia type 1 presenting as refractory epilepsy and polyneuropathy--a case report.

de Paiva AR, Castro LH, Rodrigues W Jr, Passarelli V, Jorge CL, Brotto MW, Hirata MT, Marchiori PE. de Paiva AR, et al. J Neurol Sci. 2012 Apr 15;315(1-2):172-5. doi: 10.1016/j.jns.2011.11.015. Epub 2011 Dec 2. J Neurol Sci. 2012. PMID: 22138026

2

Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

Nóbrega PR, de Brito de Souza JL, Maurício RB, de Paiva ARB, Dias DA, Camelo CG, Zanotelli E, Schlesinger D, Braga-Neto P, Moreno CAM. Nóbrega PR, et al. Among authors: de paiva arb. Neurol Sci. 2024 Mar;45(3):1225-1231. doi: 10.1007/s10072-023-07128-6. Epub 2023 Oct 18. Neurol Sci. 2024. PMID: 37851294

3

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

Nóbrega PR, Morais JLA, Ferreira AM, de Medeiros AD, Duarte BA, Rangel DM, Lima FO, de Paiva ARB, Paim-Marques L, Kok F, Pessoa ALS, Braga-Neto P, Carvalho FMM. Nóbrega PR, et al. Among authors: de paiva arb. Neurol Sci. 2023 Jan;44(1):319-327. doi: 10.1007/s10072-022-06388-y. Epub 2022 Sep 12. Neurol Sci. 2023. PMID: 36094773

4

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.

de Paiva AR, Freua F, Lucato LT, Parmera J, Dória D, Nóbrega PR, Olávio TR, Macedo-Souza LI, Kok F. de Paiva AR, et al. J Neurol. 2016 Apr;263(4):821-2. doi: 10.1007/s00415-016-8065-8. Epub 2016 Feb 25. J Neurol. 2016. PMID: 26914930 No abstract available.

5

Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.

Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Resende LL, et al. Among authors: de paiva arb. Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. Radiographics. 2019. PMID: 30620693 Review.

6

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

de Paiva ARB, Lynch DS, Melo US, Lucato LT, Freua F, de Assis BDR, Barcelos I, Listik C, de Castro Dos Santos D, Macedo-Souza LI, Houlden H, Kok F. de Paiva ARB, et al. Neurol Genet. 2019 Jan 16;5(1):e306. doi: 10.1212/NXG.0000000000000306. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30697592 Free PMC article. No abstract available.

7

A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Budhdeo S, de Paiva ARB, Wade C, Lopes LCG, Della-Ripa B, Davagnanam I, Lucato L, Mummery CJ, Kok F, Houlden H, Werring DJ, Lynch DS. Budhdeo S, et al. Among authors: de paiva arb. J Neurol. 2022 Dec;269(12):6673-6677. doi: 10.1007/s00415-022-11302-9. Epub 2022 Jul 29. J Neurol. 2022. PMID: 35904593

8

Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3.

Nóbrega PR, Castro MAA, de Paiva ARB, Kok F. Nóbrega PR, et al. Among authors: de paiva arb. Am J Med Genet A. 2022 Dec;188(12):3567-3568. doi: 10.1002/ajmg.a.62977. Epub 2022 Sep 30. Am J Med Genet A. 2022. PMID: 36177944 No abstract available.

9

Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.

Nóbrega PR, da Costa FBS, Rodrigues PGB, de Maria Frota Vasconcelos T, Soares DMB, Araújo JS, Dias DA, Sobreira-Neto MA, de Paiva ARB, Braga-Neto P, Kok F, Fontenele EGP. Nóbrega PR, et al. Among authors: de paiva arb. BMC Neurol. 2022 Oct 8;22(1):381. doi: 10.1186/s12883-022-02912-x. BMC Neurol. 2022. PMID: 36209056 Free PMC article.

10

Did you rule out neurosyphilis?

Nitrini R, de Paiva ARB, Takada LT, Brucki SMD. Nitrini R, et al. Dement Neuropsychol. 2010 Oct-Dec;4(4):338-345. doi: 10.1590/S1980-57642010DN40400014. Dement Neuropsychol. 2010. PMID: 29213708 Free PMC article.

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