Search Results - Jorge Sequeiros

Refine Results
  1. 1
    Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

    Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias by Jorge Sequeiros, Sara Seneca, Joanne Martindale

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

    How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence by Álvaro Mendes, Milena Paneque, Liliana Sousa, Angus Clarke, Jorge Sequeiros

    Published 2015
    Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Professor Paula Coutinho (1941-2022)

    Professor Paula Coutinho (1941-2022) by Hélio Afonso Ghizoni Teive, Léo Coutinho, Joaquim J. Ferreira, Jorge Sequeiros

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Communication of Information about Genetic Risks: Putting Families at the Center

    Communication of Information about Genetic Risks: Putting Families at the Center by Álvaro Mendes, Alison Metcalfe, Milena Paneque, Liliana Sousa, Angus Clarke, Jorge Sequeiros

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    What is ideal genetic counselling? A survey of current international guidelines

    What is ideal genetic counselling? A survey of current international guidelines by Elina Rantanen, Marja Hietala, Ulf Kristoffersson, Irmgard Nippert, Jörg Schmidtke, Jorge Sequeiros, Helena Kääriäinen

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Machado‐Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population

    Machado‐Joseph Disease Enhances Genetic Fitness: A Comparison Between Affected and Unaffected Women and Between MJD and the General Population by Priscilla R. Prestes, Maria Luiza Saraiva Pereira, Isabel Silveira, Jorge Sequeiros, Laura Bannach Jardim

    Published 2007
    Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family

    Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family by Isabel Alonso, José Barros, Assunção Tuna, João Coelho, Jorge Sequeiros, Isabel Silveira, Paula Coutinho

    Published 2003
    Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    [NO TITLE AVAILABLE]

    [NO TITLE AVAILABLE] by Lavínia Schüler‐Faccini, Claudio Osorio, Flavia Romariz, Milena Paneque, Jorge Sequeiros, Laura Bannach Jardim

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds

    Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds by Laura Bannach Jardim, Maria Luiza Saraiva Pereira, Isabel Silveira, Anabela Ferro, Jorge Sequeiros, Roberto Giugliani

    Published 2001
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

    Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil by Patrícia Ashton‐Prolla, José Roberto Goldim, Filippo Pinto e Vairo, Úrsula da Silveira Matte, Jorge Sequeiros

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

    Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease by Bruno Carniatto Marques Garcia, Francisco Manoel Branco Germiniani, Paula Marques, Jorge Sequeiros, Hélio Afonso Ghizoni Teive

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

    Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil by Patrícia Ashton‐Prolla, José Roberto Goldim, Filippo Pinto e Vairo, Úrsula da Silveira Matte, Jorge Sequeiros

    Published 2015
    Get full text Get full text
    Errata/Corrigenda
    Save to List
    Saved in:
  13. 13
    Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

    Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) by Diana Santos, Teresa Coelho, Miguel Alves‐Ferreira, Jorge Sequeiros, Denisa Mendonça, Isabel Alonso, Carolina Lemos, Alda Sousa

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M

    The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M by Diana Santos, Teresa Coelho, Miguel Alves‐Ferreira, Jorge Sequeiros, Isabel Alonso, Manuela Grazina, Alda Sousa, Carolina Lemos

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms

    Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms by João Moura, Jorge Oliveira, Mariana Santos, Sara Costa, Lénia Silva, Carolina Lemos, José Barros, Jorge Sequeiros, Joana Damásio

    Published 2024
    Get full text Get full text
    Pré-impressão
    Save to List
    Saved in:
  16. 16
    Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype

    Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype by Laura Bannach Jardim, Isabel Silveira, Maria Luiza Saraiva Pereira, M. Do Céu Moreira, Pedro Mendonça, Jorge Sequeiros, Roberto Giugliani

    Published 2003
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

    Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4 by José Brás, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana Orme, Jorge Sequeiros, John Hardy, Paula Coutinho, Rita Guerreiro

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

    mtDNA copy number associated with age of onset in familial amyloid polyneuropathy by Diana Santos, Maria João Santos, Miguel Alves‐Ferreira, Teresa Coelho, Jorge Sequeiros, Isabel Alonso, Pedro Oliveira, Alda Sousa, Carolina Lemos, Manuela Grazina

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias by Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Carneiro Ribeiro, José L. Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stévanin

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Frataxin knockin mouse

    Frataxin knockin mouse by Carlos J. Miranda, Miguel M. Santos, Keiichi Ohshima, Julie Smith, Liangtao Li, Michaeline Bunting, Mireille Cossée, Michael L. Koenig, Jorge Sequeiros, Jerry Kaplan, Massimo Pandolfo

    Published 2002
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: