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Page 1
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: della ripa b. Brain Sci. 2023 Aug 5;13(8):1169. doi: 10.3390/brainsci13081169. Brain Sci. 2023. PMID: 37626525 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: della ripa b. 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.
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: della ripa b. 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.
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
da Costa SCG, Rezende Filho FM, de Freitas JL, de Assis Pereira Matos PCA, Della-Ripa B, França MC Jr, Marques W Junior, Santos M, Cronemberger IVB, Vale TC, Kok F, Alonso I, Pedroso JL, Barsottini OGP. da Costa SCG, et al. Among authors: della ripa b. Mov Disord. 2022 Jun;37(6):1309-1316. doi: 10.1002/mds.29015. Epub 2022 Apr 14. Mov Disord. 2022. PMID: 35426160
Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].
Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Cabral KSS, Monteiro F, Kitajima JP, de Souza Godoy LF, de Souza Delgado D, Kok F, Garzon E. Inuzuka LM, et al. Among authors: della ripa b. Brain Dev. 2021 May;43(5):671. doi: 10.1016/j.braindev.2021.01.005. Epub 2021 Feb 16. Brain Dev. 2021. PMID: 33608194 No abstract available.
Parental germline mosaicism in SCN3A-related severe developmental disorder.
Inuzuka LM, Macedo-Souza LI, Guerra-Peixe M, Cobas Pedreira C, Della-Ripa B, Souza Delgado D, Monteiro F, Kitajima JP, Garzon E, Kok F. Inuzuka LM, et al. Among authors: della ripa b. Brain Dev. 2021 May;43(5):669-670. doi: 10.1016/j.braindev.2020.12.013. Epub 2021 Jan 22. Brain Dev. 2021. PMID: 33494954 No abstract available.