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Jorge Sequeiros

University of Porto
Instituto de Biologia Molecular e Celular
Institute of Business & Medical Careers

285

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8131

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Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis.

2021 Amyloid
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Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype

2021 Clinical Genetics
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Role of older generations in the family's adjustment to Huntington disease.

2021 Journal of Community Genetics
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Blindness and Deafness – an Extreme Phenotype in Friedreich Ataxia

2021
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Author response for "Congenital ataxia due to novel variant in ATP8A2"

2021
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A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study.

2021 Journal of Headache and Pain
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Congenital ataxia due to novel variant in ATP8A2.

2021 Clinical Genetics
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Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases.

2021 Journal of Genetic Counseling
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Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report.

2021
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A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation.

2021 European Journal of Medical Genetics
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