Nóbrega PR - Search Results

1

A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.

da Silva Rocha EB, de Lima Rodrigues K, Montouro LAM, Coelho ÉN, Kouyoumdjian JA, Kok F, Nóbrega PR, Graca CR, Morita MDPA, Estephan EP. da Silva Rocha EB, et al. Among authors: nobrega pr. Neuromuscul Disord. 2023 Aug;33(8):692-696. doi: 10.1016/j.nmd.2023.06.004. Epub 2023 Jun 21. Neuromuscul Disord. 2023. PMID: 37429773

2

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

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. 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

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.

5

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.

6

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. BMC Neurol. 2022 Oct 8;22(1):381. doi: 10.1186/s12883-022-02912-x. BMC Neurol. 2022. PMID: 36209056 Free PMC article.

7

New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.

Brito LA, Nóbrega PR, Dias DA, Barreto ARF, Freitas HC, Kok F, Rodrigues CL. Brito LA, et al. Among authors: nobrega pr. Neurol Sci. 2023 Oct;44(10):3691-3696. doi: 10.1007/s10072-023-06792-y. Epub 2023 May 4. Neurol Sci. 2023. PMID: 37140833

8

Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59).

Pessoa ALS, Quesada AA, Nóbrega PR, Viana APO, de Oliveira KT, Figueiredo T, Santos S, Kok F. Pessoa ALS, et al. Among authors: nobrega pr. Brain Sci. 2023 Jul 10;13(7):1048. doi: 10.3390/brainsci13071048. Brain Sci. 2023. PMID: 37508980 Free PMC article.

9

Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.

Nóbrega PR, R B de Paiva A, Souza KS, de Souza JLB, G S B Lima PL, da Silva DJ, Pitombeira MS, Borges VK, Dias DA, Bispo LM, Santos CF, Freua F, Silva PDS, Alves IS, Portella LB, Cunha PR, Salomao RPA, Pedroso JL, Miyajima VP, Miyajima F, Cali E, Wade C, Sudarsanam A, O'Driscoll M, Hayton T, Barsottini OGP, Klebe S, Kok F, Lucato LT, Houlden H, Depienne C, Lynch DS, Braga-Neto P. Nóbrega PR, et al. Brain Commun. 2023 Oct 17;6(1):fcad273. doi: 10.1093/braincomms/fcad273. eCollection 2024. Brain Commun. 2023. PMID: 38173802 Free PMC article.

10

Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?

Silva GD, Mahler JV, da Silva Junior SRP, Mendonça LO, de Sá Barreto Lima PLG, Nóbrega PR, Kok F, Freua F. Silva GD, et al. Among authors: nobrega pr. BMC Neurol. 2024 Apr 17;24(1):130. doi: 10.1186/s12883-024-03621-3. BMC Neurol. 2024. PMID: 38632524 Free PMC article.

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