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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: antoniuk sa. 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.
A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).
Nunes BA, Romano AKFG, Pasa Morgan MA, Gonçalves AA, Cardozo LFM, de Almeida LGD, Haddad LA, Crippa ACS, Antoniuk SA, Abagge KT. Nunes BA, et al. Among authors: antoniuk sa. An Bras Dermatol. 2024 Sep-Oct;99(5):662-669. doi: 10.1016/j.abd.2023.11.004. Epub 2024 Apr 23. An Bras Dermatol. 2024. PMID: 38658236 Free PMC article.
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG, Cardozo LFM, Schwind MR, Carvalho D, Almeida JPG, Cappellano AM, Alegria TGP, Nanhoe S, Nellist M, Passos-Bueno MR, Chiavegatto S, Silva NS, Rosemberg S, Pereira APA, Antoniuk SA, Haddad LA. Dufner-Almeida LG, et al. Among authors: antoniuk sa. Genes (Basel). 2024 Nov 3;15(11):1432. doi: 10.3390/genes15111432. Genes (Basel). 2024. PMID: 39596632 Free PMC article.
Neurological, cognitive and learning evaluation of students who were born preterm.
Carmo ALSD, Fredo FW, Bruck I, Lima JDRM, Janke RNRGH, Fogaça TDGM, Glaser JA, Riechi TIJS, Antoniuk SA. Carmo ALSD, et al. Among authors: antoniuk sa. Rev Paul Pediatr. 2021 Jul 30;40:e2020252. doi: 10.1590/1984-0462/2022/40/2020252. eCollection 2021. Rev Paul Pediatr. 2021. PMID: 34346991 Free PMC article.
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F. Inuzuka LM, et al. Among authors: antoniuk sa. Eur J Paediatr Neurol. 2021 Sep;34:7-13. doi: 10.1016/j.ejpn.2021.05.013. Epub 2021 Jun 21. Eur J Paediatr Neurol. 2021. PMID: 34271245
52 results