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Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Macedo-Souza LI, et al. Among authors: pessoa a. Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4. Ann Hum Genet. 2009. PMID: 19344448
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M. Mitne-Neto M, et al. Among authors: pessoa a. Eur J Hum Genet. 2007 Dec;15(12):1276-9. doi: 10.1038/sj.ejhg.5201924. Epub 2007 Sep 26. Eur J Hum Genet. 2007. PMID: 17895902
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: pessoa a. Clin Genet. 2024 Sep;106(3):305-314. doi: 10.1111/cge.14538. Epub 2024 May 15. Clin Genet. 2024. PMID: 38747280
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. Among authors: pessoa a. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Lourenço CM, Pessoa A, Mendes CC, Rivera-Nieto C, Vergara D, Troncoso M, Gardner E, Mallorens F, Tavera L, Lizcano LA, Atanacio N, Guelbert N, Specola N, Mancilla N, de Souza CFM, Mole SE. Lourenço CM, et al. Among authors: pessoa a. J Paediatr Child Health. 2021 Apr;57(4):519-525. doi: 10.1111/jpc.15250. Epub 2020 Dec 30. J Paediatr Child Health. 2021. PMID: 33377563 Free PMC article.
314 results