| 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 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2012 |
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, et al. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization. Brain : a Journal of Neurology. 135: 1423-35. PMID 22492559 DOI: 10.1093/brain/aws069 |
0.297 |
|
| 2018 |
Li T, Martins S, Peng Y, Wang P, Hou X, Chen Z, Wang C, Tang Z, Qiu R, Chen C, Hu Z, Xia K, Tang B, Sequeiros J, Jiang H. Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? Frontiers in Genetics. 9: 740. PMID 30842792 DOI: 10.3389/fgene.2018.00740 |
0.294 |
|
| 2019 |
Loureiro JR, Oliveira CL, Mota C, Castro AF, Costa C, Loureiro JL, Coutinho P, Martins S, Sequeiros J, Silveira I. Mutational mechanism for DAB1 (ATTTC) insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution. Human Mutation. 40: 404-412. PMID 30588707 DOI: 10.1002/humu.23704 |
0.293 |
|
| 2022 |
Santos M, Damásio J, Carmona S, Neto JL, Dehghani N, Guedes LC, Barbot C, Barros J, Brás J, Sequeiros J, Guerreiro R. Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia. Cells. 11. PMID 35326432 DOI: 10.3390/cells11060981 |
0.29 |
|
| 2007 |
Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KR, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AM. Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. Journal of Human Genetics. 52: 990-8. PMID 17952365 DOI: 10.1007/s10038-007-0205-7 |
0.289 |
|
| 2015 |
Santos D, Coelho T, Alves-Ferreira M, Sequeiros J, Mendonça D, Alonso I, Lemos C, Sousa A. Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics : Ejhg. PMID 26286643 DOI: 10.1038/ejhg.2015.180 |
0.289 |
|
| 2018 |
Chen Z, Sequeiros J, Tang B, Jiang H. Genetic modifiers of age-at-onset in polyglutamine diseases. Ageing Research Reviews. PMID 30355507 DOI: 10.1016/j.arr.2018.10.004 |
0.285 |
|
| 2006 |
Martins S, Calafell F, Wong VCN, Sequeiros J, Amorim A. A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus European Journal of Human Genetics. 14: 932-940. PMID 16724006 DOI: 10.1038/sj.ejhg.5201643 |
0.28 |
|
| 2012 |
Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, ... ... Sequeiros J, et al. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. American Journal of Human Genetics. 90: 434-44. PMID 22387017 DOI: 10.1016/J.Ajhg.2012.01.005 |
0.277 |
|
| 2015 |
Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I. Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 168: 135-43. PMID 25656686 DOI: 10.1002/Ajmg.B.32289 |
0.273 |
|
| 2021 |
Alves-Ferreira M, Azevedo A, Coelho T, Santos D, Sequeiros J, Alonso I, Sousa A, Lemos C. Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 1-7. PMID 33461327 DOI: 10.1080/13506129.2020.1857236 |
0.273 |
|
| 2012 |
Couto AR, Zhang Y, Timms A, Bruges-Armas J, Sequeiros J, Brown MA. Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. Rheumatology International. 32: 2745-51. PMID 21811784 DOI: 10.1007/s00296-011-2022-8 |
0.272 |
|
| 2011 |
Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I. FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and Brain Functions : Bbf. 7: 19. PMID 21639881 DOI: 10.1186/1744-9081-7-19 |
0.272 |
|
| 2019 |
Paneque M, Félix J, Mendes Á, Lemos C, Lêdo S, Silva J, Sequeiros J. Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal. Acta Medica Portuguesa. 32: 295-304. PMID 31067424 DOI: 10.20344/amp.10526 |
0.272 |
|
| 2014 |
Schuler-Faccini L, Osorio CM, Romariz F, Paneque M, Sequeiros J, Jardim LB. Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal. Genetics and Molecular Biology. 37: 263-70. PMID 24764760 DOI: 10.1590/s1415-47572014000200012 |
0.272 |
|
| 2013 |
Barros J, Damásio J, Tuna A, Alves I, Silveira I, Pereira-Monteiro J, Sequeiros J, Alonso I, Sousa A, Coutinho P. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family. Jama Neurology. 70: 235-40. PMID 23407676 DOI: 10.1001/jamaneurol.2013.591 |
0.27 |
|
| 2012 |
Martins S, Soong BW, Wong VCN, Giunti P, Stevanin G, Ranum LPW, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA. Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala Archives of Neurology. 69: 746-751. PMID 22351852 |
0.263 |
|
| 2003 |
Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. Archives of Neurology. 60: 610-4. PMID 12707077 DOI: 10.1001/archneur.60.4.610 |
0.262 |
|
| 2016 |
Chen Z, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Wang C, Peng H, Ye W, Qiu R, ... ... Sequeiros J, et al. (CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. Brain : a Journal of Neurology. PMID 27085188 DOI: 10.1093/Brain/Aww087 |
0.262 |
|
| 2015 |
Ogun SA, Martins S, Adebayo PB, Dawodu CO, Sequeiros J, Finkel MF. Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. European Journal of Human Genetics : Ejhg. 23: 271-3. PMID 24781759 DOI: 10.1038/ejhg.2014.77 |
0.255 |
|
| 2012 |
Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, ... ... Sequeiros J, et al. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications. 424: 404-8. PMID 22771793 DOI: 10.1016/J.Bbrc.2012.06.120 |
0.255 |
|
| 2020 |
Santos M, Damásio J, Kun-Rodrigues C, Barbot C, Sequeiros J, Brás J, Alonso I, Guerreiro R. Novel Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype. Journal of Clinical Medicine. 9. PMID 32340215 DOI: 10.3390/Jcm9041212 |
0.254 |
|
| 2013 |
Quintas M, Neto JL, Pereira-Monteiro J, Barros J, Sequeiros J, Sousa A, Alonso I, Lemos C. Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility. Plos One. 8: e74087. PMID 24040174 DOI: 10.1371/journal.pone.0074087 |
0.251 |
|
| 2013 |
Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, ... ... Sequeiros J, et al. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 14: 173-9. PMID 23644918 DOI: 10.1007/S10048-013-0364-Y |
0.242 |
|
| 2012 |
Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, ... ... Sequeiros J, et al. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset. Human Genetics. 131: 1833-40. PMID 22825315 DOI: 10.1007/S00439-012-1205-Z |
0.232 |
|
| 2021 |
Damásio J, Santos D, Sara Morais S, Brás J, Guerreiro R, Sardoeira A, Cavaco S, Carrilho I, Barbot C, Barros J, Sequeiros J. Congenital ataxia due to novel variant in ATP8A2. Clinical Genetics. PMID 33682124 DOI: 10.1111/cge.13954 |
0.229 |
|
| 2023 |
Malaquias MJ, Oliveira J, Santos M, Brandão AF, Sardoeira A, Sequeiros J, Barros J, Damásio J. Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation. Movement Disorders Clinical Practice. 10: 670-676. PMID 37070055 DOI: 10.1002/mdc3.13694 |
0.226 |
|
| 2018 |
Ding D, Wang C, Chen Z, Peng H, Li K, Zhou X, Peng Y, Wang P, Hou X, Li T, Qiu R, Xia K, Sequeiros J, Ashizawa T, Tang B, et al. Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. Neurobiology of Aging. PMID 30554804 DOI: 10.1016/J.Neurobiolaging.2018.11.002 |
0.224 |
|
| 2004 |
Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, ... ... Sequeiros J, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genetics. 36: 225-7. PMID 14770181 DOI: 10.1038/ng1303 |
0.219 |
|
| 2023 |
Martins S, Yahia A, Costa IPD, Siddig HE, Abubaker R, Koko M, Corral-Juan M, Matilla-Dueñas A, Brice A, Durr A, Leguern E, Ranum LPW, Amorim A, Elsayed LEO, Stevanin G, ... Sequeiros J, et al. Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage. Human Genetics. PMID 37957369 DOI: 10.1007/s00439-023-02611-8 |
0.215 |
|
| 2018 |
Lopes A, Rodrigues C, Fonseca I, Sousa A, Branco M, Coelho T, Sequeiros J, Freitas P. Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: does genetic risk affect family functioning? Clinical Genetics. PMID 30019395 DOI: 10.1111/cge.13416 |
0.211 |
|
| 2014 |
Leandro B, Paneque M, Sequeiros J, Porto G. Insufficient referral for genetic counseling in the management of hereditary haemochromatosis in portugal: a study of perceptions of health professionals requesting HFE genotyping Journal of Genetic Counseling. 23: 770-777. PMID 24399095 DOI: 10.1007/s10897-013-9681-4 |
0.21 |
|
| 2015 |
Ramos EM, Kovalenko M, Guide JR, St Claire J, Gillis T, Mysore JS, Sequeiros J, Wheeler VC, Alonso I, MacDonald ME. Chromosome substitution strain assessment of a Huntington's disease modifier locus. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 26: 119-30. PMID 25645993 DOI: 10.1007/S00335-014-9552-9 |
0.209 |
|
| 2019 |
Santos M, Morais S, Pereira C, Sequeiros J, Alonso I. Parkin truncating variants result in a loss-of-function phenotype. Scientific Reports. 9: 16150. PMID 31695088 DOI: 10.1038/S41598-019-52534-6 |
0.207 |
|
| 2008 |
Seneca S, Morris MA, Patton S, Elles R, Sequeiros J. Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias European Journal of Human Genetics. 16: 913-920. PMID 18301445 DOI: 10.1038/ejhg.2008.29 |
0.204 |
|
| 2014 |
Barros J, Ferreira A, Brandão AF, Lemos C, Correia F, Damásio J, Tuna A, Sequeiros J, Coutinho P, Alonso I, Pereira-Monteiro J. Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley. Cephalalgia : An International Journal of Headache. 34: 1015-20. PMID 24646837 DOI: 10.1177/0333102414527015 |
0.201 |
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| 2016 |
Lêdo S, Leite Â, Souto T, Dinis MA, Sequeiros J. Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy. Revista Brasileira De Psiquiatria (SãO Paulo, Brazil : 1999). 38: 113-20. PMID 26870910 DOI: 10.1590/1516-4446-2014-1617 |
0.198 |
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| 2017 |
Lopes A, Sousa A, Fonseca I, Branco M, Rodrigues C, Coelho T, Sequeiros J, Freitas P. Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study. Journal of Community Genetics. PMID 29052096 DOI: 10.1007/s12687-017-0338-0 |
0.191 |
|
| 2018 |
Wang C, Chen Z, Peng H, Peng Y, Zhou X, Yang H, Wang P, Li T, Hou X, Qiu R, Xia K, Sequeiros J, Tang B, Jiang H. Investigation on modulation of DNA repair pathways in Chinese MJD patients. Neurobiology of Aging. PMID 30033072 DOI: 10.1016/j.neurobiolaging.2018.06.024 |
0.186 |
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| 2017 |
Mendes Á, Metcalfe A, Paneque M, Sousa L, Clarke AJ, Sequeiros J. Communication of Information about Genetic Risks: Putting Families at the Center. Family Process. PMID 28714147 DOI: 10.1111/famp.12306 |
0.185 |
|
| 2013 |
Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, et al. Current issues in medically assisted reproduction and genetics in Europe: Research, clinical practice, ethics, legal issues and policy European society of human genetics and European society of human reproduction and embryology European Journal of Human Genetics. 21. PMID 24225486 DOI: 10.1038/ejhg.2013.219 |
0.178 |
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| 2017 |
Mendes Á, Sousa L, Sequeiros J, Clarke A. Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science & Medicine (1982). 182: 73-80. PMID 28433926 DOI: 10.1016/j.socscimed.2017.04.026 |
0.175 |
|
| 2022 |
Oliveira CR, Mendes Á, Sequeiros J, Sousa L. From older to younger generations: Intergenerational transmission of health-related roles in families with Huntington's disease. Journal of Aging Studies. 61: 101027. PMID 35654538 DOI: 10.1016/j.jaging.2022.101027 |
0.174 |
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| 2006 |
Soini S, Ibarreta D, Anastasiadou V, Aymé S, Braga S, Cornel M, Coviello DA, Evers-Kiebooms G, Geraedts J, Gianaroli L, Harper J, Kosztolanyi G, Lundin K, Rodrigues-Cerezo E, Sermon K, ... Sequeiros J, et al. The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. European Journal of Human Genetics : Ejhg. 14: 588-645. PMID 16636693 DOI: 10.1038/sj.ejhg.5201598 |
0.173 |
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| 2014 |
Lemos C, Coelho T, Alves-Ferreira M, Martins-da-Silva A, Sequeiros J, Mendonça D, Sousa A. Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 326-30. PMID 24046394 DOI: 10.1136/jnnp-2013-305383 |
0.172 |
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| 2021 |
Oliveira CR, Mendes Á, Sequeiros J, Sousa L. Role of older generations in the family's adjustment to Huntington disease. Journal of Community Genetics. PMID 33768463 DOI: 10.1007/s12687-021-00523-6 |
0.171 |
|
| 2011 |
Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, ... ... Sequeiros J, et al. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. European Journal of Human Genetics : Ejhg. 19: S6-44. PMID 21412252 DOI: 10.1038/Ejhg.2010.249 |
0.165 |
|
| 2023 |
Damásio J, Barbot C, Felgueiras R, Brandão AF, Barros J, Oliveira J, Sequeiros J. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Movement Disorders : Official Journal of the Movement Disorder Society. 38: 910-911. PMID 37303095 DOI: 10.1002/mds.29380 |
0.164 |
|
| 2012 |
Ramos EM, Cerqueira J, Lemos C, Pinto-Basto J, Alonso I, Sequeiros J. Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 583-5. PMID 22162197 DOI: 10.1002/mds.24065 |
0.164 |
|
| 2017 |
Santos D, Santos MJ, Alves-Ferreira M, Coelho T, Sequeiros J, Alonso I, Oliveira P, Sousa A, Lemos C, Grazina M. mtDNA copy number associated with age of onset in familial amyloid polyneuropathy. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29018163 DOI: 10.1136/jnnp-2017-316657 |
0.16 |
|
| 2018 |
Lopes A, Fonseca I, Sousa A, Rodrigues C, Branco M, Coelho T, Sequeiros J, Freitas P. Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 1-11. PMID 29357699 DOI: 10.1080/13506129.2018.1428795 |
0.159 |
|
| 2014 |
Barros J, Ruano L, Domingos J, Tuna A, Damásio J, Alonso I, Silveira I, Sequeiros J, Coutinho P. The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. Headache. 54: 911-5. PMID 24898624 DOI: 10.1111/head.12260 |
0.156 |
|
| 2022 |
Couto D, Sousa L, Sequeiros J, Lima M, Mendes Á. Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal. Journal of Community Genetics. 13: 459-461. PMID 35851653 DOI: 10.1007/s12687-022-00602-2 |
0.156 |
|
| 2016 |
Mendes Á, Paneque M, Sousa L, Clarke A, Sequeiros J. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. European Journal of Human Genetics : Ejhg. 24: 315-25. PMID 26264439 DOI: 10.1038/ejhg.2015.174 |
0.154 |
|
| 2020 |
Quintas M, Neto JL, Sequeiros J, Sousa A, Pereira-Monteiro J, Lemos C, Alonso I. Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study. Headache. 60: 2152-2165. PMID 32979221 DOI: 10.1111/head.13957 |
0.153 |
|
| 2021 |
Damásio J, Sardoeira A, Araújo M, Carvalho I, Sequeiros J, Barros J. Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report. Cerebellum & Ataxias. 8: 17. PMID 34266481 DOI: 10.1186/s40673-021-00140-6 |
0.15 |
|
| 2020 |
Oliveira CR, Mendes Á, Sequeiros J, Sousa L. Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together. European Journal of Human Genetics : Ejhg. PMID 32341469 DOI: 10.1038/s41431-020-0630-z |
0.149 |
|
| 2017 |
Chen Z, Wang C, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Peng H, Ye W, Qiu R, ... ... Sequeiros J, et al. Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. Brain : a Journal of Neurology. PMID 28334945 DOI: 10.1093/Brain/Awx028 |
0.148 |
|
| 2007 |
Alonso I, Marques JM, Sousa N, Sequeiros J, Olsson IA, Silveira I. Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant. Neurobiology of Aging. 29: 1733-43. PMID 17513018 DOI: 10.1016/J.Neurobiolaging.2007.04.005 |
0.147 |
|
| 2010 |
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, et al. EMQN Best Practice Guidelines for molecular genetic testing of SCAs. European Journal of Human Genetics : Ejhg. 18: 1173-6. PMID 20179742 DOI: 10.1038/ejhg.2010.8 |
0.145 |
|
| 2021 |
Alves-Ferreira M, Quintas M, Sequeiros J, Sousa A, Pereira-Monteiro J, Alonso I, Neto JL, Lemos C. A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study. The Journal of Headache and Pain. 22: 57. PMID 34126933 DOI: 10.1186/s10194-021-01266-y |
0.143 |
|
| 2002 |
Miranda CJ, Santos MM, Ohshima K, Smith J, Li L, Bunting M, Cossée M, Koenig M, Sequeiros J, Kaplan J, Pandolfo M. Frataxin knockin mouse. Febs Letters. 512: 291-7. PMID 11852098 DOI: 10.1016/S0014-5793(02)02251-2 |
0.143 |
|
| 2007 |
McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Aymé S, Schnieders B, Muller CR, Dalen V, ... ... Sequeiros J, et al. Report of an international survey of molecular genetic testing laboratories. Community Genetics. 10: 123-31. PMID 17575456 DOI: 10.1159/000101753 |
0.14 |
|
| 2013 |
Barros J, Barreto R, Brandão AF, Domingos J, Damásio J, Ramos C, Lemos C, Sequeiros J, Alonso I, Pereira-Monteiro J. Monozygotic twin sisters discordant for familial hemiplegic migraine. The Journal of Headache and Pain. 14: 77. PMID 24041236 DOI: 10.1186/1129-2377-14-77 |
0.133 |
|
| 2013 |
Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC. Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. Jama Neurology. 70: 746-55. PMID 23609960 DOI: 10.1001/jamaneurol.2013.1707 |
0.133 |
|
| 2008 |
Lemos C, Castro MJ, Barros J, Sequeiros J, Pereira-Monteiro J, Mendonça D, Sousa A. Familial clustering of migraine: further evidence from a Portuguese study. Headache. 49: 404-11. PMID 18624713 DOI: 10.1111/j.1526-4610.2008.01177.x |
0.132 |
|
| 2012 |
Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB. Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials. Cerebellum (London, England). 11: 488-504. PMID 21964941 DOI: 10.1007/s12311-011-0316-8 |
0.123 |
|
| 2014 |
Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, et al. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. Human Reproduction (Oxford, England). 29: 1603-9. PMID 25006203 DOI: 10.1093/humrep/deu130 |
0.122 |
|
| 2003 |
Santos MM, Miranda CJ, Levy JE, Montross LK, Cossée M, Sequeiros J, Andrews N, Koenig M, Pandolfo M. Iron metabolism in mice with partial frataxin deficiency The Cerebellum. 2: 146-153. PMID 12880182 DOI: 10.1080/14734220309408 |
0.122 |
|
| 2022 |
Teive HAG, Coutinho L, Ferreira JJ, Sequeiros J. Professor Paula Coutinho (1941-2022). Arquivos De Neuro-Psiquiatria. 80: 871-874. PMID 36252598 DOI: 10.1055/s-0042-1756170 |
0.12 |
|
| 2022 |
Couto D, Sousa L, Sequeiros J, Lima M, Mendes Á. Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal. Journal of Community Genetics. 1-3. PMID 35873602 DOI: 10.1007/s12687-022-00602-2 |
0.12 |
|
| 2021 |
Mendes Á, Sequeiros J, Clarke AJ. Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases. Journal of Genetic Counseling. PMID 33893685 DOI: 10.1002/jgc4.1415 |
0.12 |
|
| 2019 |
Sharony R, Martins S, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR. Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor. European Journal of Human Genetics : Ejhg. PMID 31189928 DOI: 10.1038/s41431-019-0449-7 |
0.12 |
|
| 2019 |
Dias A, Santos D, Coelho T, Alves-Ferreira M, Sequeiros J, Alonso I, Sousa A, Lemos C. and modify age-at-onset in familial amyloid polyneuropathy patients. Annals of Clinical and Translational Neurology. 6: 748-754. PMID 31019999 DOI: 10.1002/acn3.748 |
0.12 |
|
| 2019 |
Costa IPD, Almeida BC, Sequeiros J, Amorim A, Martins S. A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 . Frontiers in Genetics. 10: 38. PMID 30804982 DOI: 10.3389/fgene.2019.00038 |
0.12 |
|
| 2019 |
Santos D, Coelho T, Alves-Ferreira M, Sequeiros J, Mendonça D, Alonso I, Sousa A, Lemos C. Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients. Annals of Neurology. 85: 251-258. PMID 30615214 DOI: 10.1002/ana.25409 |
0.12 |
|
| 2018 |
Mendes Á, Paneque M, Clarke A, Sequeiros J. Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. European Journal of Human Genetics : Ejhg. PMID 30573801 DOI: 10.1038/s41431-018-0308-y |
0.12 |
|
| 2018 |
Paneque M, Costa C, Lemos C, Alves-Ferreira M, Sequeiros J, Lemos MS. [Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a New Tool for Healthcare Professionals]. Acta Medica Portuguesa. 31: 321-328. PMID 30020877 DOI: 10.20344/amp.9997 |
0.12 |
|
| 2018 |
Loureiro JR, Oliveira CL, Sequeiros J, Silveira I. A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37. Journal of Human Genetics. 63: 981-987. PMID 29891931 DOI: 10.1038/s10038-018-0474-3 |
0.12 |
|
| 2018 |
Lêdo S, Ramires A, Leite Â, Dinis MAP, Sequeiros J. Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases. European Journal of Medical Genetics. 61: 575-580. PMID 29581083 DOI: 10.1016/j.ejmg.2018.03.010 |
0.12 |
|
| 2018 |
Martins S, Sequeiros J. Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events. Advances in Experimental Medicine and Biology. 1049: 243-254. PMID 29427107 DOI: 10.1007/978-3-319-71779-1_12 |
0.12 |
|
| 2017 |
Lopes A, Fonseca I, Sousa A, Branco M, Rodrigues C, Coelho T, Sequeiros J, Freitas P. Psychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy. Biomedicine Hub. 2: 1-14. PMID 31988916 DOI: 10.1159/000485118 |
0.12 |
|
| 2017 |
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I. Rare Neurodegenerative Diseases: Clinical and Genetic Update. Advances in Experimental Medicine and Biology. 1031: 443-496. PMID 29214587 DOI: 10.1007/978-3-319-67144-4_25 |
0.12 |
|
| 2017 |
Garcia BCM, Germiniani FMB, Marques P, Sequeiros J, Teive HAG. Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease. Arquivos De Neuro-Psiquiatria. 75: 748-750. PMID 29166467 DOI: 10.1590/0004-282X20170127 |
0.12 |
|
| 2017 |
Lêdo S, Leite Â, Souto T, Pimenta Dinis MA, Sequeiros J. Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact. Psicothema. 29: 446-452. PMID 29048302 DOI: 10.7334/psicothema2016.298 |
0.12 |
|
| 2017 |
Alves-Ferreira M, Coelho T, Santos D, Sequeiros J, Alonso I, Sousa A, Lemos C. A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal. Molecular Neurobiology. PMID 28527106 DOI: 10.1007/s12035-017-0593-4 |
0.12 |
|
| 2017 |
Santos D, Coelho T, Alves-Ferreira M, Sequeiros J, Mendonça D, Alonso I, Lemos C, Sousa A. Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset. Annals of Clinical and Translational Neurology. 4: 98-105. PMID 28168209 DOI: 10.1002/acn3.380 |
0.12 |
|
| 2017 |
Leite Â, Dinis MA, Sequeiros J, Paúl C. Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases. Psychology, Health & Medicine. 22: 244-249. PMID 26947204 DOI: 10.1080/13548506.2016.1159704 |
0.12 |
|
| 2016 |
Morais S, Bastos-Ferreira R, Sequeiros J, Alonso I. Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. Neurology. Genetics. 2: e73. PMID 27182553 DOI: 10.1212/NXG.0000000000000073 |
0.12 |
|
| 2016 |
Pereira Mda C, Morais S, Sequeiros J, Alonso I. Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A. Asn Neuro. 8. PMID 27005779 DOI: 10.1177/1759091416637025 |
0.12 |
|
| 2015 |
Ashton-Prolla P, Goldim JR, Vairo FP, da Silveira Matte U, Sequeiros J. Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil. Journal of Community Genetics. 6: 285. PMID 26219722 DOI: 10.1007/s12687-015-0246-0 |
0.12 |
|
| 2015 |
Sequeiros J, Gibbon S, Clarke A. Genetics and ethics in Latin America. Journal of Community Genetics. 6: 185-7. PMID 26054699 DOI: 10.1007/s12687-015-0241-5 |
0.12 |
|
| 2015 |
Ashton-Prolla P, Goldim JR, Vairo FP, da Silveira Matte U, Sequeiros J. Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil. Journal of Community Genetics. 6: 275-83. PMID 26040235 DOI: 10.1007/s12687-015-0238-0 |
0.12 |
|
| 2015 |
Leite Â, Dinis MA, Sequeiros J, Paúl C. Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Journal of Genetic Counseling. 25: 79-89. PMID 25986962 DOI: 10.1007/s10897-015-9846-4 |
0.12 |
|
| 2015 |
Sequeiros J. John MacMillan, M.D. (1959-2014): an inspiring example of a community clinical geneticist. Journal of Community Genetics. 6: 329-30. PMID 25809496 DOI: 10.1007/s12687-015-0221-9 |
0.12 |
|
| 2015 |
Paneque M, Mendes Á, Saraiva J, Sequeiros J. Genetic Counseling in Portugal: Education, Practice and a Developing Profession. Journal of Genetic Counseling. 24: 548-52. PMID 25727922 DOI: 10.1007/s10897-015-9827-7 |
0.12 |
|
| 2015 |
Paneque M, Sequeiros J, Skirton H. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study. European Journal of Human Genetics : Ejhg. 23: 1468-72. PMID 25689925 DOI: 10.1038/ejhg.2015.23 |
0.12 |
|
| 2013 |
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. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. Jama Neurology. 70: 481-7. PMID 23400676 DOI: 10.1001/jamaneurol.2013.1956 |
0.12 |
|
| 2013 |
Rodrigues F, Paneque M, Reis C, Venâncio M, Sequeiros J, Saraiva J. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness. Journal of Genetic Counseling. 22: 448-54. PMID 23355074 DOI: 10.1007/s10897-012-9565-z |
0.12 |
|
| 2013 |
Guimarães L, Sequeiros J, Skirton H, Paneque M. What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective. Journal of Genetic Counseling. 22: 437-47. PMID 23292684 DOI: 10.1007/s10897-012-9561-3 |
0.12 |
|
| 2012 |
Martindale JE, Seneca S, Wieczorek S, Sequeiros J. Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. Human Mutation. 33: 1359-65. PMID 22753119 DOI: 10.1002/humu.22156 |
0.12 |
|
| 2012 |
Melo DG, Sequeiros J. The challenges of incorporating genetic testing in the unified national health system in Brazil. Genetic Testing and Molecular Biomarkers. 16: 651-5. PMID 22533694 DOI: 10.1089/gtmb.2011.0286 |
0.12 |
|
| 2012 |
Sequeiros J, Paneque M, Guimarães B, Rantanen E, Javaher P, Nippert I, Schmidtke J, Kääriäainen H, Kristoffersson U, Cassiman JJ. The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. Journal of Community Genetics. 3: 113-24. PMID 22368105 DOI: 10.1007/s12687-012-0084-2 |
0.12 |
|
| 2012 |
Varga O, Soini S, Kääriäinen H, Cassiman JJ, Nippert I, Rogowski W, Nys H, Kristoffersson U, Schmidtke J, Sequeiros J. Definitions of genetic testing in European legal documents. Journal of Community Genetics. 3: 125-41. PMID 22278813 DOI: 10.1007/s12687-012-0077-1 |
0.12 |
|
| 2011 |
Sequeiros J, Martins S, Silveira I. Epidemiology and population genetics of degenerative ataxias. Handbook of Clinical Neurology. 103: 227-51. PMID 21827892 DOI: 10.1016/B978-0-444-51892-7.00014-0 |
0.12 |
|
| 2011 |
Paneque M, Sequeiros J, Skirton H. Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: a thematic analysis of three review articles. Genetic Testing and Molecular Biomarkers. 16: 36-45. PMID 21819246 DOI: 10.1089/gtmb.2011.0023 |
0.12 |
|
| 2011 |
Melo MM, Carvalho M, Lopes V, Anjos MJ, Serra A, Vieira DN, Sequeiros J, Corte-Real F. Y-STR haplotypes in three ethnic linguistic groups of Angola population. Forensic Science International. Genetics. 5: e83-8. PMID 20801729 DOI: 10.1016/j.fsigen.2010.08.002 |
0.12 |
|
| 2010 |
Pinto-Basto J, Guimarães B, Rantanen E, Javaher P, Nippert I, Cassiman JJ, Kääriäinen H, Kristoffersson U, Schmidtke J, Sequeiros J. Scope of definitions of genetic testing: evidence from a EuroGentest survey. Journal of Community Genetics. 1: 29-35. PMID 22422358 DOI: 10.1007/s12687-010-0004-2 |
0.12 |
|
| 2010 |
Santos PI, Figueiredo E, Gomes I, Sequeiros J. Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M). Journal of Genetic Counseling. 19: 585-92. PMID 20680419 DOI: 10.1007/s10897-010-9311-3 |
0.12 |
|
| 2010 |
Melo MM, Carvalho M, Lopes V, Anjos MJ, Serra A, Vieira DN, Sequeiros J, Corte-Real F. Genetic study of 15 STRs loci of Identifiler system in Angola population. Forensic Science International. Genetics. 4: e153-7. PMID 20457105 DOI: 10.1016/j.fsigen.2010.03.010 |
0.12 |
|
| 2010 |
Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. European Journal of Human Genetics : Ejhg. 18: 1188-95. PMID 20179748 DOI: 10.1038/ejhg.2010.10 |
0.12 |
|
| 2010 |
Ramos EM, Martins S, Alonso I, Emmel VE, Saraiva-Pereira ML, Jardim LB, Coutinho P, Sequeiros J, Silveira I. Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 524-31. PMID 19676102 DOI: 10.1002/ajmg.b.31013 |
0.12 |
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| 2009 |
Paneque M, Lemos C, Sousa A, Velázquez L, Fleming M, Sequeiros J. Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent. Journal of Genetic Counseling. 18: 483-93. PMID 19731000 DOI: 10.1007/s10897-009-9240-1 |
0.12 |
|
| 2009 |
Patch C, Sequeiros J, Cornel MC. Direct to consumer genetic tests. European Journal of Human Genetics : Ejhg. 17: 1111. PMID 19401718 DOI: 10.1038/ejhg.2009.66 |
0.12 |
|
| 2009 |
Patch C, Sequeiros J, Cornel MC. Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing. European Journal of Human Genetics : Ejhg. 17: 857-9. PMID 19259126 DOI: 10.1038/ejhg.2008.246 |
0.12 |
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| 2009 |
Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I. Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). Plos One. 4: e4553. PMID 19234597 DOI: 10.1371/journal.pone.0004553 |
0.12 |
|
| 2008 |
Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. European Journal of Human Genetics : Ejhg. 16: 1208-16. PMID 18478036 DOI: 10.1038/ejhg.2008.93 |
0.12 |
|
| 2008 |
Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, Schmidtke J. EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genetics. 11: 75-120. PMID 18204250 DOI: 10.1159/000111984 |
0.12 |
|
| 2008 |
Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H. What is ideal genetic counselling? A survey of current international guidelines. European Journal of Human Genetics : Ejhg. 16: 445-52. PMID 18197196 DOI: 10.1038/sj.ejhg.5201983 |
0.12 |
|
| 2008 |
Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A. Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 439-46. PMID 17948873 DOI: 10.1002/ajmg.b.30624 |
0.12 |
|
| 2007 |
Paneque M, Lemos C, Escalona K, Prieto L, Reynaldo R, Velázquez M, Quevedo J, Santos N, Almaguer LE, Velázquez L, Sousa A, Fleming M, Sequeiros J. Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba. Journal of Genetic Counseling. 16: 469-79. PMID 17318452 DOI: 10.1007/s10897-006-9083-y |
0.12 |
|
| 2006 |
Rolim L, Zagalo-Cardoso JA, Paúl C, Sequeiros J, Fleming M. The perceived advantages and disadvantages of presymptomatic testing for Machado-Joseph disease: development of a new self-response inventory. Journal of Genetic Counseling. 15: 375-91. PMID 17004133 DOI: 10.1007/s10897-006-9033-8 |
0.12 |
|
| 2006 |
Sequeiros J. Corino Andrade (1906-2005): a clinical geneticist before its own time. Clinical Genetics. 69: 194-6. PMID 16433703 DOI: 10.1111/j.1399-0004.2006.00561.x |
0.12 |
|
| 2006 |
Martins S, Seixas AI, Magalhães P, Coutinho P, Sequeiros J, Silveira I. Haplotype diversity and somatic instability in normal and expanded SCA8 alleles. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 109-14. PMID 16184604 DOI: 10.1002/ajmg.b.30235 |
0.12 |
|
| 2004 |
Miranda CJ, Santos MM, Ohshima K, Tessaro M, Sequeiros J, Pandolfo M. Frataxin overexpressing mice. Febs Letters. 572: 281-8. PMID 15304363 DOI: 10.1016/j.febslet.2004.07.022 |
0.12 |
|
| 2004 |
Martins S, Matamá T, Guimarães L, Vale J, Guimarães J, Ramos L, Coutinho P, Sequeiros J, Silveira I. Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin. European Journal of Human Genetics : Ejhg. 11: 808-11. PMID 14512972 DOI: 10.1038/sj.ejhg.5201054 |
0.12 |
|
| 2003 |
Lobato L, Beirão I, Silva M, Bravo F, Silvestre F, Guimarães S, Sousa A, Noël LH, Sequeiros J. Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 18: 532-8. PMID 12584275 DOI: 10.1093/ndt/18.3.532 |
0.12 |
|
| 2021 |
Paneque M, Carvalho M, Rodrigues F, Saraiva J, Leonardo A, Sousa AB, Machado V, Gonçalves-Rocha M, Sequeiros J, Costa PS, Serra de Lemos M. A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation. European Journal of Medical Genetics. 64: 104375. PMID 34740860 DOI: 10.1016/j.ejmg.2021.104375 |
0.118 |
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| 2022 |
Moura J, Sardoeira A, Oliveira J, Mendes A, Barros J, Sequeiros J, Barbot C, Damásio J. Childhood-onset writer's cramp in hereditary spastic paraplegia type 15. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-7. PMID 35538608 DOI: 10.1017/cjn.2022.59 |
0.115 |
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| 2005 |
Lobato L, Beirão I, Silva M, Fonseca I, Queirós J, Rocha G, Sarmento AM, Sousa A, Sequeiros J. End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 11: 27-37. PMID 15185496 DOI: 10.1080/13506120410001673884 |
0.114 |
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| 2010 |
Lemos C, Mendonça D, Pereira-Monteiro J, Barros J, Sequeiros J, Alonso I, Sousa A. BDNF and CGRP interaction: implications in migraine susceptibility. Cephalalgia : An International Journal of Headache. 30: 1375-82. PMID 20959432 DOI: 10.1177/0333102410368443 |
0.11 |
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| 2010 |
Lemos C, Pereira-Monteiro J, Mendonça D, Ramos EM, Barros J, Sequeiros J, Alonso I, Sousa A. Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study. Archives of Neurology. 67: 422-7. PMID 20385907 DOI: 10.1001/archneurol.2010.37 |
0.103 |
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| 2018 |
Chen Z, Wang P, Wang C, Peng Y, Hou X, Zhou X, Li T, Peng H, Qiu R, Xia K, Sequeiros J, Tang B, Jiang H. Updated frequency analysis of spinocerebellar ataxia in China. Brain : a Journal of Neurology. PMID 29444203 DOI: 10.1093/brain/awy016 |
0.092 |
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| 2023 |
Sequeiros J, Loureiro JL, Barros J. In Memoriam: Paula Coutinho (1941-2022), a pioneer in Neurogenetics. Journal of the Neurological Sciences. 453: 120799. PMID 37713951 DOI: 10.1016/j.jns.2023.120799 |
0.075 |
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| 2012 |
Lemos C, Alonso I, Barros J, Sequeiros J, Pereira-Monteiro J, Mendonça D, Sousa A. Assessing risk factors for migraine: differences in gender transmission. Plos One. 7: e50626. PMID 23185642 DOI: 10.1371/journal.pone.0050626 |
0.062 |
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