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Page 1
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.
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.
Stroke in vascular Ehlers-Danlos syndrome.
Ranzani Martins R, da Silva Paiva ML, da Silva Teixeira WC, Kawahira RSH, Freua F, Castro MAA, Kim CA, Kok F. Ranzani Martins R, et al. Among authors: kok f. Pract Neurol. 2023 Oct;23(5):436-438. doi: 10.1136/pn-2023-003753. Epub 2023 Jul 17. Pract Neurol. 2023. PMID: 37460211 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.
Gerstmann-Sträussler-Scheinker Disease Presenting as Late-Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
Stephen CD, de Gusmao CM, Srinivasan SR, Olsen A, Freua F, Kok F, Montes Garcia Barbosa R, Chen JYH, Appleby BS, Prior T, Frosch MP, Schmahmann JD. Stephen CD, et al. Among authors: kok f. Mov Disord Clin Pract. 2024 Apr;11(4):411-423. doi: 10.1002/mdc3.13976. Epub 2024 Jan 23. Mov Disord Clin Pract. 2024. PMID: 38258626
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