Pinto-Basto J - Search Results

1

Cação G, Garrido C, Miranda V, Pinto-Basto J, Chaves J, Chorão R. Cação G, et al. Neurol Sci. 2018 Sep;39(9):1631-1633. doi: 10.1007/s10072-018-3428-9. Epub 2018 May 3. Neurol Sci. 2018. PMID: 29725776 No abstract available.

2

Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

Carvalho A, Nunes J, Taipa R, Melo Pires M, Pinto Basto J, Barros P. Carvalho A, et al. Among authors: pinto basto j. Neurol Sci. 2021 Jul;42(7):2955-2959. doi: 10.1007/s10072-021-05096-3. Epub 2021 Jan 31. Neurol Sci. 2021. PMID: 33517539 Review.

3

Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?

Oliveira HM, Pereira C, Santos Silva E, Pinto-Basto J, Pessegueiro Miranda H. Oliveira HM, et al. Dig Liver Dis. 2016 Feb;48(2):203-5. doi: 10.1016/j.dld.2015.11.002. Epub 2015 Dec 1. Dig Liver Dis. 2016. PMID: 26699824

4

Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.

Negrão L, Almendra L, Ribeiro J, Matos A, Geraldo A, Pinto-Basto J. Negrão L, et al. Acta Myol. 2014 Dec;33(3):144-8. Acta Myol. 2014. PMID: 25873783 Free PMC article.

5

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease.

Machado R, Pinto-Basto J, Negrão L. Machado R, et al. Among authors: pinto basto j. Acta Myol. 2019 Sep 1;38(3):180-183. eCollection 2019 Sep. Acta Myol. 2019. PMID: 31788662 Free PMC article.

6

A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.

Oliveira HM, Pereira C, Santos-Silva E, Pinto-Basto J, Vizcaíno JR, Pessegueiro-Miranda H. Oliveira HM, et al. Eur J Case Rep Intern Med. 2017 Mar 27;4(2):000537. doi: 10.12890/2016_000537. eCollection 2017. Eur J Case Rep Intern Med. 2017. PMID: 30755924 Free PMC article.

7

Bethlem myopathy in a Portuguese patient - case report.

Martins AI, Maarque C, Pinto-Basto J, Negrão L. Martins AI, et al. Acta Myol. 2017 Sep 1;36(3):178-181. eCollection 2017 Sep. Acta Myol. 2017. PMID: 29774307 Free PMC article.

8

Genomic imbalances defining novel intellectual disability associated loci.

Lopes F, Torres F, Soares G, Barbosa M, Silva J, Duque F, Rocha M, Sá J, Oliveira G, Sá MJ, Temudo T, Sousa S, Marques C, Lopes S, Gomes C, Barros G, Jorge A, Rocha F, Martins C, Mesquita S, Loureiro S, Cardoso EM, Cálix MJ, Dias A, Martins C, Mota CR, Antunes D, Dupont J, Figueiredo S, Figueiroa S, Gama-de-Sousa S, Cruz S, Sampaio A, Eijk P, Weiss MM, Ylstra B, Rendeiro P, Tavares P, Reis-Lima M, Pinto-Basto J, Fortuna AM, Maciel P. Lopes F, et al. Among authors: pinto basto j. Orphanet J Rare Dis. 2019 Jul 5;14(1):164. doi: 10.1186/s13023-019-1135-0. Orphanet J Rare Dis. 2019. PMID: 31277718 Free PMC article.

9

Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.

Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P. Loureiro JL, et al. JAMA Neurol. 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. JAMA Neurol. 2013. PMID: 23400676 Review.

10

Heterozygous variants in SPTBN1 cause intellectual disability and autism.

Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM; Undiagnosed Diseases Network; Yang Y, Posey JE, Lee BH. Rosenfeld JA, et al. Among authors: pinto basto j. Am J Med Genet A. 2021 Jul;185(7):2037-2045. doi: 10.1002/ajmg.a.62201. Epub 2021 Apr 13. Am J Med Genet A. 2021. PMID: 33847457

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