| Year |
Citation |
Score |
| 2023 |
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, ... ... Sequeiros J, et al. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. American Journal of Human Genetics. PMID 37301203 DOI: 10.1016/j.ajhg.2023.05.009 |
0.321 |
|
| 2021 |
Raposo M, Bettencourt C, Melo ARV, Ferreira AF, Alonso I, Silva P, Vasconcelos J, Kay T, Saraiva-Pereira ML, Costa MD, Vilasboas-Campos D, Bettencourt BF, Bruges-Armas J, Houlden H, Heutink P, ... ... Sequeiros J, et al. Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Neurobiology of Disease. 162: 105578. PMID 34871736 DOI: 10.1016/j.nbd.2021.105578 |
0.523 |
|
| 2021 |
Damásio J, Santos M, Samões R, Araújo M, Macedo M, Sardoeira A, Cavaco S, Freitas J, Barros J, Oliveira J, Sequeiros J. Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clinical Genetics. PMID 34477219 DOI: 10.1111/cge.14055 |
0.32 |
|
| 2020 |
Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, et al. Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. Aging. 12. PMID 32205469 DOI: 10.18632/aging.102825 |
0.448 |
|
| 2017 |
Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. European Journal of Human Genetics : Ejhg. PMID 28832565 DOI: 10.1038/Ejhg.2017.124 |
0.317 |
|
| 2017 |
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, ... ... Sequeiros J, et al. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics. 101: 87-103. PMID 28686858 DOI: 10.1016/J.Ajhg.2017.06.007 |
0.46 |
|
| 2015 |
Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics. 96: 474-9. PMID 25728773 DOI: 10.1016/J.Ajhg.2015.01.005 |
0.314 |
|
| 2014 |
Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA. Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human Genetics. 133: 1311-8. PMID 25026993 DOI: 10.1007/S00439-014-1467-8 |
0.452 |
|
| 2013 |
Bettencourt C, Raposo M, Kazachkova N, Santos C, Kay T, Vasconcelos J, Maciel P, Donis KC, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Bruges-Armas J, Lima M. Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum (London, England). 11: 1045-50. PMID 22422287 DOI: 10.1007/s12311-012-0373-7 |
0.523 |
|
| 2012 |
Conceição Pereira M, Loureiro JL, Pinto-Basto J, Brandão E, Margarida Lopes A, Neves G, Dias P, Geraldes R, Martins IP, Cruz VT, Kamsteeg EJ, Brunner HG, Coutinho P, Sequeiros J, Alonso I. Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 143-51. PMID 22237444 DOI: 10.1038/Gim.2011.7 |
0.33 |
|
| 2012 |
Bettencourt C, Raposo M, Kazachkova N, Cymbron T, Santos C, Kay T, Vasconcelos J, Maciel P, Donis KC, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Lima M. The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Archives of Neurology. 68: 1580-3. PMID 22159055 DOI: 10.1001/archneurol.2011.636 |
0.523 |
|
| 2011 |
Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, ... ... Sequeiros J, et al. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain & Development. 33: 69-76. PMID 20116947 DOI: 10.1016/j.braindev.2010.01.004 |
0.564 |
|
| 2010 |
Lafrenière RG, Cader MZ, Poulin JF, Andres-Enguix I, Simoneau M, Gupta N, Boisvert K, Lafrenière F, McLaughlan S, Dubé MP, Marcinkiewicz MM, Ramagopalan S, Ansorge O, Brais B, Sequeiros J, et al. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine. 16: 1157-60. PMID 20871611 DOI: 10.1038/Nm.2216 |
0.392 |
|
| 2008 |
Ferro A, Castro MJ, Lemos C, Santos M, Sousa A, Pereira-Monteiro J, Sequeiros J, Maciel P. The C677T polymorphism in MTHFR is not associated with migraine in Portugal. Disease Markers. 25: 107-13. PMID 18957721 DOI: 10.1155/2008/178679 |
0.523 |
|
| 2008 |
Temudo T, Ramos E, Dias K, Barbot C, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Fonseca M, Cabral A, Cabral P, Monteiro JP, Borges L, ... ... Sequeiros J, et al. Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1384-90. PMID 18512755 DOI: 10.1002/mds.22115 |
0.586 |
|
| 2008 |
Temudo T, Freitas P, Sequeiros J, Maciel P, Oliveira G. Atypical stereotypies and vocal tics in Rett syndrome: An illustrative case. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 622-4. PMID 18200598 DOI: 10.1002/mds.21939 |
0.523 |
|
| 2008 |
Temudo T, Maciel P, Sequeiros J. Abnormal movements in Rett syndrome are present before the regression period: a case study. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 2284-7. PMID 17914728 DOI: 10.1002/mds.21744 |
0.523 |
|
| 2007 |
Ferro A, Carvalho AL, Teixeira-Castro A, Almeida C, Tomé RJ, Cortes L, Rodrigues AJ, Logarinho E, Sequeiros J, Macedo-Ribeiro S, Maciel P. NEDD8: a new ataxin-3 interactor. Biochimica Et Biophysica Acta. 1773: 1619-27. PMID 17935801 DOI: 10.1016/j.bbamcr.2007.07.012 |
0.551 |
|
| 2007 |
Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, ... ... Sequeiros J, et al. Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of Neurology. 64: 1502-8. PMID 17923634 DOI: 10.1001/Archneur.64.10.1502 |
0.455 |
|
| 2007 |
Rodrigues AJ, Coppola G, Santos C, Costa Mdo C, Ailion M, Sequeiros J, Geschwind DH, Maciel P. Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 21: 1126-36. PMID 17234717 DOI: 10.1096/Fj.06-7002Com |
0.576 |
|
| 2006 |
Costa MDC, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Journal of Human Genetics. 51: 645-651. PMID 16858508 DOI: 10.1007/s10038-006-0001-9 |
0.619 |
|
| 2005 |
Costa MDC, Magalhães P, Guimarães L, Maciel P, Sequeiros J, Sousa A. The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation. Journal of Human Genetics. 51: 189-195. PMID 16372132 DOI: 10.1007/s10038-005-0343-8 |
0.602 |
|
| 2005 |
Costa MC, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P. Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics. 6: 209-15. PMID 16220345 DOI: 10.1007/s10048-005-0013-1 |
0.613 |
|
| 2005 |
Alonso I, Costa C, Gomes A, Ferro A, Seixas AI, Silva S, Cruz VT, Coutinho P, Sequeiros J, Silveira I. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. Journal of Human Genetics. 50: 523-529. PMID 16189624 DOI: 10.1007/s10038-005-0287-z |
0.306 |
|
| 2005 |
Costa MC, Gomes-da-Silva J, Miranda CJ, Sequeiros J, Santos MM, Maciel P. Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene. Genomics. 84: 361-73. PMID 15233999 DOI: 10.1016/j.ygeno.2004.02.012 |
0.569 |
|
| 2004 |
Santos M, Costa MC, Edite Rio M, José Sá M, Monteiro M, Valença A, Sá A, Dinis J, Figueiredo J, Bigotte de Almeida L, Valongueiro A, Coelho I, Matamá MT, Pinto-Basto J, Sequeiros J, et al. Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Multiple Sclerosis (Houndmills, Basingstoke, England). 10: 153-7. PMID 15124760 DOI: 10.1191/1352458504ms998oa |
0.585 |
|
| 2003 |
Costa MC, Magalhães P, Ferreirinha F, Guimarães L, Januário C, Gaspar I, Loureiro L, Vale J, Garrett C, Regateiro F, Magalhães M, Sousa A, Maciel P, Sequeiros J. Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice. European Journal of Human Genetics : Ejhg. 11: 872-8. PMID 14571273 DOI: 10.1038/sj.ejhg.5201055 |
0.607 |
|
| 2003 |
Alizadeh M, Babron MC, Birebent B, Matsuda F, Quelvennec E, Liblau R, Cournu-Rebeix I, Momigliano-Richiardi P, Sequeiros J, Yaouanq J, Genin E, Vasilescu A, Bougerie H, Trojano M, Martins Silva B, et al. Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients. Annals of Neurology. 54: 119-22. PMID 12838528 DOI: 10.1002/ana.10617 |
0.582 |
|
| 2003 |
Barreirinho S, Ferro A, Santos M, Costa El, Pinto-Basto J, Sousa A, Sequeiros J, Maciel P, Barbot C, Barbot J. Inherited and acquired risk factors and their combined effects in pediatric stroke. Pediatric Neurology. 28: 134-8. PMID 12699865 DOI: 10.1016/s0887-8994(02)00506-4 |
0.523 |
|
| 2002 |
Costa MC, Sequeiros J, Maciel P. Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population. Journal of Human Genetics. 47: 205-7. PMID 12166658 DOI: 10.1007/s100380200025 |
0.592 |
|
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