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Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Winckler PB, da Silva AMS, Coimbra-Neto AR, Carvalho E, Cavalcanti EBU, Sobreira CFR, Marrone CD, Machado-Costa MC, Carvalho AAS, Feio RHF, Rodrigues CL, Gonçalves MVM, Tenório RB, Mendonça RH, Cotta A, Paim JFO, Costa E Silva C, de Aquino Cruz C, Bená MI, Betancur DFA, El Husny AS, de Souza ICN, Duarte RCB, Reed UC, Chaves MLF, Zanoteli E, França MC Jr, Saute JA. Winckler PB, et al. Among authors: marrone cd. Clin Genet. 2019 Oct;96(4):341-353. doi: 10.1111/cge.13597. Epub 2019 Jul 15. Clin Genet. 2019. PMID: 31268554
Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition.
Pinto MV, França MC Jr, Gonçalves MVM, Machado-Costa MC, Freitas MRG, Gondim FAA, Marrone CD, Martinez ARM, Moreira CL, Nascimento OJM, Covaleski APP, Oliveira ASB, Pupe CCB, Rodrigues MMJ, Rotta FT, Scola RH, Marques W Jr, Waddington-Cruz M. Pinto MV, et al. Among authors: marrone cd. Arq Neuropsiquiatr. 2023 Mar;81(3):308-321. doi: 10.1055/s-0043-1764412. Epub 2023 Apr 14. Arq Neuropsiquiatr. 2023. PMID: 37059440 Free PMC article.
Genetic profile of Brazilian patients with dystrophinopathies.
de Almeida PAD, Machado-Costa MC, Manzoli GN, Ferreira LS, Rodrigues MCS, Bueno LSM, Saute JAM, Pinto Vairo F, Matte US, Siebert M, Cossio SL, Macedo GS, Winckler PB, Becker MM, Magalhães LVB, Gonçalves MVM, Marrone CD, Nucci A, França MC Jr. de Almeida PAD, et al. Among authors: marrone cd. Clin Genet. 2017 Aug;92(2):199-203. doi: 10.1111/cge.12975. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28116794
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK. Oba-Shinjo SM, et al. Among authors: marrone cd. J Neurol. 2009 Nov;256(11):1881-90. doi: 10.1007/s00415-009-5219-y. Epub 2009 Jul 9. J Neurol. 2009. PMID: 19588081
14 results