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No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.
Fachal L, Mosquera-Miguel A, Pastor P, Ortega-Cubero S, Lorenzo E, Oterino-Durán A, Toriello M, Quintáns B, Camiña-Tato M, Sesar A, Vega A, Sobrido MJ, Salas A. Fachal L, et al. Among authors: quintans b. Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):54-65. doi: 10.1002/ajmg.b.32276. Epub 2014 Oct 28. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 25349034
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I. Seixas AI, et al. Among authors: quintans b. Am J Hum Genet. 2017 Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007. Am J Hum Genet. 2017. PMID: 28686858 Free PMC article.
Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data.
Gusmão L, Sánchez-Diz P, Alves C, Quintáns B, García-Poveda E, Geada H, Raimondi E, Silva de la Fuente SM, Vide MC, Whittle MR, Zarrabeitia MT, Carvalho M, Negreiros V, Prieto Solla L, Riancho JA, Campos-Sánchez R, Vieira-Silva C, Toscanini U, Amorim A, Carracedo A; GEP-ISFG. Gusmão L, et al. Among authors: quintans b. Forensic Sci Int. 2003 Aug 12;135(2):150-7. doi: 10.1016/s0379-0738(03)00199-3. Forensic Sci Int. 2003. PMID: 12927417
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ. García-Murias M, et al. Among authors: quintans b. Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3. Brain. 2012. PMID: 22492559 Free PMC article.
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Boone PM, et al. Among authors: quintans b. Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065914 Free PMC article.
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E. Ozes B, et al. Among authors: quintans b. Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19. Clin Genet. 2017. PMID: 28295203 Free PMC article.
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