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612 results

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Page 1
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Paiva ARB, Pessoa ALS, Nóbrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Della-Ripa B, Cunha P, Peixoto de Barcelos I, Macedo-Souza LI, Takeuchi CA, Garcia AMS, Nardes F, Fontão R, Antoniuk SA, Troncoso M, Spécola N, Durand C, Madeiro BACS, Doriqui MJR, Vergara D, Houlden H, Kok F. Paiva ARB, et al. Among authors: kok f. J Neurol Neurosurg Psychiatry. 2023 May;94(5):405-408. doi: 10.1136/jnnp-2022-330135. Epub 2023 Feb 3. J Neurol Neurosurg Psychiatry. 2023. PMID: 36737246 No abstract available.
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.
Peixoto de Barcelos I, Bueno C, S Godoy LF, Pessoa A, A Costa L, C Monti F, Souza-Cabral K, Listik C, Castro D, Della-Ripa B, Freua F, C Pires L, T Krüger L, D Gherpelli JL, B Piazzon F, P Monteiro F, T Lucato L, Kok F. Peixoto de Barcelos I, et al. Among authors: kok f. Brain Sci. 2023 Aug 5;13(8):1169. doi: 10.3390/brainsci13081169. Brain Sci. 2023. PMID: 37626525 Free PMC article.
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
de Souza GC, Malta MC, Santos MRS, Fontes MÍB, de Sousa Anjos JL, Ribeiro DP, Kok F, Figueiredo T. de Souza GC, et al. Among authors: kok f. Neurol Sci. 2024 Jun;45(6):2705-2710. doi: 10.1007/s10072-023-07271-0. Epub 2023 Dec 30. Neurol Sci. 2024. PMID: 38159148
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. Among authors: kok f. Brain Commun. 2023 Oct 17;6(1):fcad273. doi: 10.1093/braincomms/fcad273. eCollection 2024. Brain Commun. 2023. PMID: 38173802 Free PMC article.
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Camelo CG, Moreno CAM, Artilheiro MDC, Fonseca ATQM, Gurgel Gianetti J, Barbosa AV, Donis KC, Saute JAM, Pessoa A, Van der Linden H Jr, Gonçalves ARA, Kulikowski LD, Kok F, Zanoteli E. Camelo CG, et al. Among authors: kok f. Clin Genet. 2024 May 15. doi: 10.1111/cge.14538. Online ahead of print. Clin Genet. 2024. PMID: 38747280
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: kok f. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332
612 results