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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: freua 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.
Susac syndrome.
Freua F, Lucato LT, Villela F, Rabello GD. Freua F, et al. Arq Neuropsiquiatr. 2014 Oct;72(10):812-3. doi: 10.1590/0004-282x20140128. Arq Neuropsiquiatr. 2014. PMID: 25337735 Free article. No abstract available.
Primary central nervous system lymphoma (PCNSL).
Caires EM, Freua F, Costa FD, Moura FL, Peterlevitz MA, Zambon AA. Caires EM, et al. Among authors: freua f. Arq Neuropsiquiatr. 2016 May;74(5):428-9. doi: 10.1590/0004-282X20160031. Arq Neuropsiquiatr. 2016. PMID: 27191242 Free article. No abstract available.
Chronic stage of Marchiafava-Bignami disease.
Lucato LT, Freua F, Kok F. Lucato LT, et al. Among authors: freua f. Arq Neuropsiquiatr. 2015 Oct;73(10):890. doi: 10.1590/0004-282X20150103. Epub 2015 Aug 11. Arq Neuropsiquiatr. 2015. PMID: 26291992 Free article. No abstract available.
A novel GFAP mutation in a type II (late-onset) Alexander disease patient.
de Paiva AR, Freua F, Lucato LT, Parmera J, Dória D, Nóbrega PR, Olávio TR, Macedo-Souza LI, Kok F. de Paiva AR, et al. Among authors: freua f. J Neurol. 2016 Apr;263(4):821-2. doi: 10.1007/s00415-016-8065-8. Epub 2016 Feb 25. J Neurol. 2016. PMID: 26914930 No abstract available.
SCA23 and prodynorphin: is it time for gene retraction?
Pedroso JL, Vale TC, Freua F, Barsottini OG, Kok F. Pedroso JL, et al. Among authors: freua f. Brain. 2016 Aug;139(Pt 8):e42. doi: 10.1093/brain/aww093. Epub 2016 May 1. Brain. 2016. PMID: 27190015 No abstract available.
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS, Rodrigues Brandão de Paiva A, Zhang WJ, Bugiardini E, Freua F, Tavares Lucato L, Macedo-Souza LI, Lakshmanan R, Kinsella JA, Merwick A, Rossor AM, Bajaj N, Herron B, McMonagle P, Morrison PJ, Hughes D, Pittman A, Laurà M, Reilly MM, Warren JD, Mummery CJ, Schott JM, Adams M, Fox NC, Murphy E, Davagnanam I, Kok F, Chataway J, Houlden H. Lynch DS, et al. Among authors: freua f. Brain. 2017 May 1;140(5):1204-1211. doi: 10.1093/brain/awx045. Brain. 2017. PMID: 28334938 Free PMC article.
Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.
Paiva ARB, Melo US, Freua F, Dória D, Cabral KSS, Macedo-Souza LI, Lucato LT, Kok F. Paiva ARB, et al. Among authors: freua f. Arq Neuropsiquiatr. 2018 Apr;76(4):283. doi: 10.1590/0004-282x20180024. Arq Neuropsiquiatr. 2018. PMID: 29742247 Free article. No abstract available.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. Gurgel-Giannetti J, et al. Among authors: freua f. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. Brain. 2018. PMID: 30010796 Free PMC article.
35 results