Jorge Sequeiros

Jorge Sequeiros

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Jorge Sequeiros

Publications by authors named "Jorge Sequeiros"

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Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor.

Eur J Hum Genet 2019 Nov 12;27(11):1731-1737. Epub 2019 Jun 12.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/s41431-019-0449-7DOI Listing
November 2019

Mutational mechanism for DAB1 (ATTTC) insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.

Hum Mutat 2019 Apr 9;40(4):404-412. Epub 2019 Jan 9.

Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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http://doi.wiley.com/10.1002/humu.23704
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http://dx.doi.org/10.1002/humu.23704DOI Listing
April 2019

and modify age-at-onset in familial amyloid polyneuropathy patients.

Ann Clin Transl Neurol 2019 Apr 7;6(4):748-754. Epub 2019 Mar 7.

i3S Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal.

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http://dx.doi.org/10.1002/acn3.748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469251PMC
April 2019

Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal.

Acta Med Port 2019 Apr 30;32(4):295-304. Epub 2019 Apr 30.

Instituto de Investigação e Inovação em Saúde (i3S). Universidade do Porto. Porto. UnIGENe and Centre for Predictive and Preventive Genetics (CGPP). IBMC - Institute for Molecular and Cell Biology. Universidade do Porto. Porto. Portugal.

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http://dx.doi.org/10.20344/amp.10526DOI Listing
April 2019

Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease.

Neurobiol Aging 2019 03 16;75:225.e1-225.e8. Epub 2018 Nov 16.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P.R. China; Xinjiang Medical University, Xinjiang, P.R. China. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.11.002DOI Listing
March 2019

Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease.

Eur J Hum Genet 2019 03 20;27(3):353-359. Epub 2018 Dec 20.

UnIGENe and CGPP - Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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http://www.nature.com/articles/s41431-018-0308-y
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http://dx.doi.org/10.1038/s41431-018-0308-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460576PMC
March 2019

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 .

Front Genet 2019 5;10:38. Epub 2019 Feb 5.

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.3389/fgene.2019.00038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370646PMC
February 2019

Genetic modifiers of age-at-onset in polyglutamine diseases.

Ageing Res Rev 2018 Dec 21;48:99-108. Epub 2018 Oct 21.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, PR China; Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078, PR China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, PR China; Xinjiang Medical University, Xinjiang, 830011, PR China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15681637183006
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http://dx.doi.org/10.1016/j.arr.2018.10.004DOI Listing
December 2018

Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?

Clin Genet 2018 11 14;94(5):401-408. Epub 2018 Aug 14.

Serviço de Psiquiatria e Saúde Mental, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1111/cge.13416DOI Listing
November 2018

Investigation on modulation of DNA repair pathways in Chinese MJD patients.

Neurobiol Aging 2018 11 28;71:267.e5-267.e6. Epub 2018 Jun 28.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China; Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P. R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P. R. China; Xinjiang Medical University, Xinjiang, P. R. China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183022
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.024DOI Listing
November 2018

Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases.

Eur J Med Genet 2018 Oct 23;61(10):575-580. Epub 2018 Mar 23.

IBMC - Instituto de Biologia Molecular e Celular, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Salazar, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.ejmg.2018.03.010DOI Listing
October 2018

Communication of Information about Genetic Risks: Putting Families at the Center.

Fam Process 2018 09 16;57(3):836-846. Epub 2017 Jul 16.

UnIGENe and Centre for Predictive and Preventive Genetics (CGPP), IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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http://doi.wiley.com/10.1111/famp.12306
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http://dx.doi.org/10.1111/famp.12306DOI Listing
September 2018

A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.

J Hum Genet 2018 Sep 11;63(9):981-987. Epub 2018 Jun 11.

Genetics of Cognitive Dysfunction Laboratory, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, 4200-135, Portugal.

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http://dx.doi.org/10.1038/s10038-018-0474-3DOI Listing
September 2018

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.

Adv Exp Med Biol 2018 ;1049:243-254

i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1007/978-3-319-71779-1_12DOI Listing
July 2018

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

Adv Exp Med Biol 2017 ;1031:443-496

Functional Biology and Experimental Therapeutics Laboratory, Functional and Translational Neurogenetics Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias-IGTP, Can Ruti Campus, Ctra de Can Ruti, Camí de les Escoles s/n, 08916, Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1007/978-3-319-67144-4_25DOI Listing
June 2018

[Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a New Tool for Healthcare Professionals].

Acta Med Port 2018 Jun 29;31(6):321-328. Epub 2018 Jun 29.

FPCEUP - Faculdade de Psicologia e de Ciências da Educação. Universidade do Porto. Porto. Portugal.

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http://dx.doi.org/10.20344/amp.9997DOI Listing
June 2018

A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.

Mol Neurobiol 2018 May 19;55(5):3676-3683. Epub 2017 May 19.

UnIGENe, IBMC-Institute for Molecular and Cell Biology; Institute for Research and Innovation in Health Sciences (i3S), University of Porto, 4200-135, Porto, Portugal.

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http://dx.doi.org/10.1007/s12035-017-0593-4DOI Listing
May 2018

Updated frequency analysis of spinocerebellar ataxia in China.

Brain 2018 04;141(4):e22

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China.

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http://dx.doi.org/10.1093/brain/awy016DOI Listing
April 2018

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.

J Neurol Neurosurg Psychiatry 2018 03 10;89(3):300-304. Epub 2017 Oct 10.

Centre for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics (LGB), Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1136/jnnp-2017-316657DOI Listing
March 2018

Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease.

Amyloid 2018 Mar 22;25(1):26-36. Epub 2018 Jan 22.

a Serviço de Psiquiatria e Saúde Mental , Centro Hospitalar do Porto , Porto , Portugal.

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http://dx.doi.org/10.1080/13506129.2018.1428795DOI Listing
March 2018

Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study.

J Community Genet 2018 Jan 19;9(1):93-99. Epub 2017 Oct 19.

Serviço de Psiquiatria e Saúde Mental do Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1007/s12687-017-0338-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752657PMC
January 2018

Paula Coutinho's outstanding contribution to the definition of Machado-Joseph disease.

Arq Neuropsiquiatr 2017 Oct;75(10):748-750

Universidade Federal do Paraná, Hospital de Clínicas, Unidade do Distúrbios do Movimento, Departamento de Medicina Interna, Serviço de Neurologia, Curitiba PR, Brasil.

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http://dx.doi.org/10.1590/0004-282X20170127DOI Listing
October 2017

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Am J Hum Genet 2017 Jul;101(1):87-103

Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501871PMC
July 2017

Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal.

Soc Sci Med 2017 06 15;182:73-80. Epub 2017 Apr 15.

School of Medicine, Institute of Medical Genetics, Cardiff University, Wales, UK.

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http://dx.doi.org/10.1016/j.socscimed.2017.04.026DOI Listing
June 2017

Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases.

Psychol Health Med 2017 02 7;22(2):244-249. Epub 2016 Mar 7.

d Instituto de Ciências Biomédicas Salazar (ICBAS) , Porto , Portugal.

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http://dx.doi.org/10.1080/13548506.2016.1159704DOI Listing
February 2017

Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.

Ann Clin Transl Neurol 2017 02 20;4(2):98-105. Epub 2016 Dec 20.

i3S Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal; UnIGENeIBMC - Institute for Molecular and Cell Biology Universidade do Porto Porto Portugal; ICBAS Instituto Ciências Biomédicas Abel Salazar Universidade do Porto Porto Portugal.

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http://dx.doi.org/10.1002/acn3.380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288465PMC
February 2017

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A.

ASN Neuro 2016 Mar-Apr;8(2). Epub 2016 Mar 22.

UnIGENe, Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Portugal Abel Salazar Institute for the Biomedical Sciences (ICBAS), University of Porto, Portugal CGPP, Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Portugal

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http://dx.doi.org/10.1177/1759091416637025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811018PMC
December 2016

(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China.

Brain 2016 08 16;139(Pt 8):e41. Epub 2016 Apr 16.

1 Department of Neurology Xiangya Hospital, Central South University, Changsha, Hunan, 410008, P. R. China 8 State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078, P. R. China 12 Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, 410008, P. R. China 13 Xinjiang Medical University, Xinjiang, 830011, P.R. China

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http://brain.oxfordjournals.org/content/early/2016/04/15/bra
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http://dx.doi.org/10.1093/brain/aww087DOI Listing
August 2016

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

Neurol Genet 2016 Jun 3;2(3):e73. Epub 2016 May 3.

UnIGENe (S.M., J.S., I.A.), Institute for Molecular and Cell Biology; i3S (S.M., R.B.-F., J.S., I.A.), Instituto de Investigação e Inovação em Saúde; CGPP (R.B.-F., J.S., I.A.), Institute for Molecular and Cell Biology; and Instituto de Ciências Biomédicas Abel Salazar (J.S., I.A.), University of Porto, Portugal.

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http://dx.doi.org/10.1212/NXG.0000000000000073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856358PMC
June 2016

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).

Eur J Hum Genet 2016 May 19;24(5):756-60. Epub 2015 Aug 19.

UnIGENe, IBMC, Institute for Molecular and Cell Biology, and Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/ejhg.2015.180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930087PMC
May 2016

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.

Eur J Hum Genet 2016 Mar 12;24(3):315-25. Epub 2015 Aug 12.

i3S -Instituto de Investigação e Inovação em Saúde, and Centre for Predictive and Preventive Genetics, IBMC -Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/ejhg.2015.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755382PMC
March 2016

Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations.

J Genet Couns 2016 Feb 19;25(1):79-89. Epub 2015 May 19.

Instituto de Ciências Biomédicas Salazar (ICBAS), Porto, Portugal.

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http://dx.doi.org/10.1007/s10897-015-9846-4DOI Listing
February 2016

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy.

Braz J Psychiatry 2016 Feb;38(2):113-20

Centro de Genética Preditiva e Preventiva (CGPP), Instituto de Biologia Molecular e Celular (IBMC) do Instituto de Investigação e Inovação em Saúde (i3S), Porto , Portugal, Centro de Genética Preditiva e Preventiva (CGPP), Instituto de Biologia Molecular e Celular (IBMC) do Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal.

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http://dx.doi.org/10.1590/1516-4446-2014-1617DOI Listing
February 2016

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.

Eur J Hum Genet 2015 Nov 18;23(11):1468-72. Epub 2015 Feb 18.

School of Nursing and Midwifery, Plymouth University, Plymouth, UK.

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http://dx.doi.org/10.1038/ejhg.2015.23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613464PMC
November 2015

John MacMillan, M.D. (1959-2014): an inspiring example of a community clinical geneticist.

Authors:
Jorge Sequeiros

J Community Genet 2015 Oct;6(4):329-30

I3S-Instituto de Investigação e Inovação em Saúde, IBMC-Institute for Molecular and Cell Biology and ICBAS, University Porto, Oporto, Portugal.

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http://dx.doi.org/10.1007/s12687-015-0221-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567982PMC
October 2015

Genetic Counseling in Portugal: Education, Practice and a Developing Profession.

J Genet Couns 2015 Aug 3;24(4):548-52. Epub 2015 Mar 3.

I3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal,

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http://dx.doi.org/10.1007/s10897-015-9827-7DOI Listing
August 2015

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.

J Community Genet 2015 Jul 4;6(3):275-83. Epub 2015 Jun 4.

Serviço de Genetica Medica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil,

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http://dx.doi.org/10.1007/s12687-015-0238-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524873PMC
July 2015

Genetics and ethics in Latin America.

J Community Genet 2015 Jul 9;6(3):185-7. Epub 2015 Jun 9.

Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Porto, Portugal,

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http://dx.doi.org/10.1007/s12687-015-0241-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524877PMC
July 2015

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Am J Med Genet B Neuropsychiatr Genet 2015 Mar 5;168B(2):135-43. Epub 2015 Feb 5.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA; UnIGENe, IBMC-Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1002/ajmg.b.32289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006842PMC
March 2015

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Am J Hum Genet 2015 Mar 26;96(3):474-9. Epub 2015 Feb 26.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375449PMC
March 2015

Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.

Cephalalgia 2014 Oct 19;34(12):1015-20. Epub 2014 Mar 19.

Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Portugal Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Portugal Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.

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http://dx.doi.org/10.1177/0333102414527015DOI Listing
October 2014

Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.

Hum Genet 2014 Oct 16;133(10):1311-8. Epub 2014 Jul 16.

Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, 3801 rue University, Montreal, QC, H3A2B4, Canada,

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http://link.springer.com/10.1007/s00439-014-1467-8
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http://dx.doi.org/10.1007/s00439-014-1467-8DOI Listing
October 2014

The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.

Headache 2014 May 30;54(5):911-5. Epub 2013 Oct 30.

Hospital de Santo António, CHP - Centro Hospitalar do Porto, Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1111/head.12260DOI Listing
May 2014

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.

J Neurol Neurosurg Psychiatry 2014 Mar 17;85(3):326-30. Epub 2013 Sep 17.

UnIGENe, IBMC-Instituto Biologia Molecular Celular, Universidade do Porto, , Porto, Portugal.

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http://jnnp.bmj.com/content/85/3/326.full.pdf
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2013-305383
Publisher Site
http://dx.doi.org/10.1136/jnnp-2013-305383DOI Listing
March 2014

Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.

Genet Mol Biol 2014 Mar;37(1 Suppl):263-70

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul,Porto Alegre, RS, Brazil . ; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil . ; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil . ; Instituto Nacional de Genética Médica Populacional, Porto Alegre, RS, Brazil .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983584PMC
March 2014

Monozygotic twin sisters discordant for familial hemiplegic migraine.

J Headache Pain 2013 Sep 16;14:77. Epub 2013 Sep 16.

Serviço de Neurologia, Departamento de Neurociências, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Largo Prof, Abel Salazar, 4099-001 Porto, Portugal.

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http://dx.doi.org/10.1186/1129-2377-14-77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848118PMC
September 2013

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.

JAMA Neurol 2013 Jun;70(6):746-55

UnIGENe and Centro de Genetica Preditiva e Preventiva, Institute for Molecular and Cell Biology, Centro Hospitalar do Porto, Porto, Hospital de Sao Sebastiao, Centro Hospitalar de entre Douro e Vouga, Santa Maria da Feira, Portugal.

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http://dx.doi.org/10.1001/jamaneurol.2013.1707DOI Listing
June 2013

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.

Rheumatol Int 2012 Sep 3;32(9):2745-51. Epub 2011 Aug 3.

Serviço Especializado de Epidemiologia e Biologia Molecular, Hospital de Santo Espírito, Angra do Heroísmo, Azores.

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http://dx.doi.org/10.1007/s00296-011-2022-8DOI Listing
September 2012

Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.

Hum Mutat 2012 Sep 1;33(9):1359-65. Epub 2012 Aug 1.

European Molecular Genetics Network (EMQN), spinocerebellar ataxias (SCAs) External Quality Assessment (EQA) Scheme organizer (JS) and assessors, Manchester, UK.

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http://dx.doi.org/10.1002/humu.22156DOI Listing
September 2012

The challenges of incorporating genetic testing in the unified national health system in Brazil.

Genet Test Mol Biomarkers 2012 Jul 25;16(7):651-5. Epub 2012 Apr 25.

Departamento de Medicina, Universidade Federal de São Carlos , São Paulo, Brazil.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0286
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http://dx.doi.org/10.1089/gtmb.2011.0286DOI Listing
July 2012

Definitions of genetic testing in European legal documents.

J Community Genet 2012 Apr 26;3(2):125-41. Epub 2012 Jan 26.

Institute for Molecular and Cell Biology (IBMC), University of Porto, R. Campo Alegre 823, 4150-180, Porto, Portugal.

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http://dx.doi.org/10.1007/s12687-012-0077-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312943PMC
April 2012

Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: a thematic analysis of three review articles.

Genet Test Mol Biomarkers 2012 Jan 5;16(1):36-45. Epub 2011 Aug 5.

Center for Predictive and Preventive Genetics-CGPP, Institute for Molecular and Cell Biology-IBMC, ICBAS, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1089/gtmb.2011.0023DOI Listing
January 2012

Epidemiology and population genetics of degenerative ataxias.

Handb Clin Neurol 2012 ;103:227-51

Institute of Molecular and Cell Biology, University of Porto, Portugal.

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http://dx.doi.org/10.1016/B978-0-444-51892-7.00014-0DOI Listing
December 2011

The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.

Arch Neurol 2011 Dec;68(12):1580-3

Center of Research in Natural Resources and Department of Biology, University of Azores, Rua Mãe de Deus-Apartado 1422, 9501-801 Ponta Delgada, Azores, Portugal.

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http://dx.doi.org/10.1001/archneurol.2011.636DOI Listing
December 2011

Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M).

J Genet Couns 2010 Dec 3;19(6):585-92. Epub 2010 Aug 3.

Faculdade de Ciências Humanas e Sociais, Universidade Fernando Pessoa, Pr. 9 Abril 349, Porto, Portugal.

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http://dx.doi.org/10.1007/s10897-010-9311-3DOI Listing
December 2010

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.

Eur J Hum Genet 2010 Nov 24;18(11):1188-95. Epub 2010 Feb 24.

Institute for Molecular and Cell Biology and ICBAS, University Porto, Rua Campo Alegre 823, Porto, Portugal.

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http://dx.doi.org/10.1038/ejhg.2010.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987480PMC
November 2010

BDNF and CGRP interaction: implications in migraine susceptibility.

Cephalalgia 2010 Nov 10;30(11):1375-82. Epub 2010 May 10.

Department Estudos de Populações, ICBAS, Universidade do Porto, Centro Hospitalar do Porto-Hospital de Santo António, Portugal.

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http://dx.doi.org/10.1177/0333102410368443DOI Listing
November 2010

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.

Nat Med 2010 Oct 26;16(10):1157-60. Epub 2010 Sep 26.

Centre of Excellence in Neuromics and Department of Medicine, Université de Montréal, Centre Hospitalier de l'Université de Montréal, Research Centre, Notre-Dame Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/nm.2216DOI Listing
October 2010

Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study.

Arch Neurol 2010 Apr;67(4):422-7

Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1001/archneurol.2010.37DOI Listing
April 2010

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).

Am J Med Genet B Neuropsychiatr Genet 2010 Mar;153B(2):524-531

UnIGENe, IBMC-Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1002/ajmg.b.31013DOI Listing
March 2010

Scope of definitions of genetic testing: evidence from a EuroGentest survey.

J Community Genet 2010 Mar 16;1(1):29-35. Epub 2010 Mar 16.

UnIGENe and CGPP, IBMC-Institute for Molecular and Cell Biology, University of Porto, R. Campo Alegre 823, 4150-180, Porto, Portugal.

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http://dx.doi.org/10.1007/s12687-010-0004-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185974PMC
March 2010

Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing.

Eur J Hum Genet 2009 Jul 4;17(7):857-9. Epub 2009 Mar 4.

Public and Professional Policy Committee of the European Society of Human Genetics, Vienna, Austria.

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http://dx.doi.org/10.1038/ejhg.2008.246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986502PMC
July 2009