Nóbrega PR - Search Results

1

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG.

Walker CP, Pessoa ALS, Figueiredo T, Rafferty M, Melo US, Nóbrega PR, Murphy N, Kok F, Zatz M, Santos S, Cho RY. Walker CP, et al. Among authors: nobrega pr. Orphanet J Rare Dis. 2019 Jan 7;14(1):3. doi: 10.1186/s13023-018-0977-1. Orphanet J Rare Dis. 2019. PMID: 30616629 Free PMC article.

2

Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS)-Does it Really Exist?

Freua F, Mahler JV, Lima PLGSB, Neville IS, Portella LB, Marussi VHR, Lancellotti CLP, Nobrega PR, Silva GD. Freua F, et al. Among authors: nobrega pr. Brain Sci. 2023 Aug 11;13(8):1191. doi: 10.3390/brainsci13081191. Brain Sci. 2023. PMID: 37626547 Free PMC article.

3

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S. Figueiredo T, et al. Among authors: nobrega pr. J Med Genet. 2015 Feb;52(2):123-7. doi: 10.1136/jmedgenet-2014-102793. Epub 2014 Dec 19. J Med Genet. 2015. PMID: 25527630

4

A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S. Figueiredo T, et al. Among authors: nobrega pr. Mol Psychiatry. 2016 Aug;21(8):1125-9. doi: 10.1038/mp.2015.150. Epub 2015 Sep 29. Mol Psychiatry. 2016. PMID: 26416544

5

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. Among authors: nobrega pr. 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.

6

High phenotypic variability in Gerstmann-Sträussler-Scheinker disease.

Smid J, Studart A Neto, Landemberger MC, Machado CF, Nóbrega PR, Canedo NHS, Schultz RR, Naslavsky MS, Rosemberg S, Kok F, Chimelli L, Martins VR, Nitrini R. Smid J, et al. Among authors: nobrega pr. Arq Neuropsiquiatr. 2017 Jun;75(6):331-338. doi: 10.1590/0004-282X20170049. Arq Neuropsiquiatr. 2017. PMID: 28658400 Free article.

7

Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.

Paiva ARB, Fonseca Neto RE, Afonso CL, Freua F, Nóbrega PR, Kok F. Paiva ARB, et al. Among authors: nobrega pr. Eur J Neurol. 2022 Jun;29(6):1859-1862. doi: 10.1111/ene.15298. Epub 2022 Mar 9. Eur J Neurol. 2022. PMID: 35212100

8

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. Neurol Sci. 2023 Jan;44(1):319-327. doi: 10.1007/s10072-022-06388-y. Epub 2022 Sep 12. Neurol Sci. 2023. PMID: 36094773

9

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. 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.

10

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Freua F, Almeida MEC, Nóbrega PR, Paiva ARB, Della-Ripa B, Cunha P, Macedo-Souza LI, Bueno C, Lynch DS, Houlden H, Lucato LT, Kok F. Freua F, et al. Among authors: nobrega pr. Cold Spring Harb Mol Case Stud. 2022 Sep 30;8(6):a006232. doi: 10.1101/mcs.a006232. Online ahead of print. Cold Spring Harb Mol Case Stud. 2022. PMID: 36180229 Free PMC article.

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