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Jorge Sequeiros

Jorge Sequeiros

D-Index & Metrics

Genetics

D-Index
54
Citations
11478
World Ranking
3638
National Ranking
3

Overview

Jorge Sequeiros is affiliated with the University of Porto in Portugal and has contributed extensively to the fields of biochemistry, genetics, molecular biology, and neuroscience. Their work encompasses a range of topics, with primary research interest in genetic neurodegenerative diseases and mitochondrial function and pathology.

Sequeiros's research spans multiple subfields, including molecular biology, cellular and molecular neuroscience, genetics, neurology, and sociology and political science. Their publications have appeared frequently in venues such as the Journal of Community Genetics, Research Square, Clinical Genetics, Parkinsonism & Related Disorders, and Genetics in Medicine.

Among their recent papers are:

  • Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020, Genetics in Medicine)
  • Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias (2023, The American Journal of Human Genetics)
  • Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease (2020, Aging)
  • Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing (2021, Neurobiology of Disease)
  • Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together (2020, European Journal of Human Genetics)

The main topics covered in Sequeiros's work include:

  • Genetic neurodegenerative diseases
  • Mitochondrial function and pathology
  • BRCA gene mutations in cancer
  • DNA repair mechanisms
  • Genomics and rare diseases
  • Neurological diseases and metabolism
  • Amyloidosis: diagnosis, treatment, outcomes

Frequent collaborators in their research include Joana Damásio, Álvaro Mendes, José Barros, Jorge Oliveira, and Liliana Sousa, with individual publication counts ranging from 11 to 15 coauthored works.

Best Publications

  • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

    M C Moreira;S Klur;M Watanabe;A H Nemeth

  • The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

    Maria Céu Moreira;Maria Céu Moreira;Clara Barbot;Nobutada Tachi;Naoki Kozuka

  • CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

    J.-M. Lee;E.M. Ramos;J.-H. Lee;T. Gillis

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

    Ronald G Lafrenière;M Zameel Cader;M Zameel Cader;Jean-François Poulin;Isabelle Andres-Enguix

  • Correlation between CAG repeat length and clinical features in Machado-Joseph disease

    Patrícia Maciel;Patrícia Maciel;Claudia Gaspar;Claudia Gaspar;Anita L. DeStefano;Isabel Silveira;Isabel Silveira

  • Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

    M. Anheim;B. Monga;B. Monga;M. Fleury;P. Charles

  • Genetic Epidemiology of Familial Amyloidotic Polyneuropathy (FAP)-Type I in Povoa do Varzim and Vila do Conde (North of Portugal)

    Alda Sousa;Teresa Coelho;José Barros;Jorge Sequeiros

  • The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

    Sirpa Soini;Sirpa Soini;Dolores Ibarreta;Violetta Anastasiadou;Ségolène Aymé

  • Trinucleotide Repeats in 202 Families With Ataxia: A Small Expanded (CAG)n Allele at the SCA17 Locus

    I Silveira;C Miranda;C Miranda;L Guimarães;M-C Moreira

  • Frataxin knockin mouse.

    Carlos J Miranda;Carlos J Miranda;Manuela M Santos;Manuela M Santos;Keiichi Ohshima;Julie Smith

  • Improvement in the molecular diagnosis of Machado-Joseph disease

    Patrícia Maciel;Maria do Carmo Costa;Anabela Ferro;Marylène Rousseau

  • Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

    C. Gaspar;C. Gaspar;I. Lopes-Cendes;S. Hayes;J. Goto

  • Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

    Jose Bras;Isabel Alonso;Clara Barbot;Maria Manuela Costa

  • Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

    I. Silveira;I. Lopes-Cendes;S. Kish;P. Maciel;P. Maciel

  • What is ideal genetic counselling? A survey of current international guidelines

    Elina Rantanen;Marja Hietala;Ulf Kristoffersson;Irmgard Nippert

  • A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

    Laura Bannach Jardim;Isabel Silveira;Maria Luzia Pereira;Anabela Ferro

  • 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

    Frauke Becker;Carla G. van El;Dolores Ibarreta;Eleni Zika

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

    Ana I. Seixas;Joana R. Loureiro;Cristina Costa;Andrés Ordóñez-Ugalde

  • First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy

    M-J Castro;AH Stam;C Lemos;B de Vries

  • Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family

    Isabel Alonso;José Barros;Assunção Tuna;João Coelho

Frequent Co-Authors

Patrícia Maciel
Patrícia Maciel University of Minho
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital
Iscia Lopes-Cendes
Iscia Lopes-Cendes State University of Campinas
António Amorim
António Amorim University of Lisbon
Marcy E. MacDonald
Marcy E. MacDonald Harvard University
Roberto Giugliani
Roberto Giugliani Federal University of Rio Grande do Sul
James F. Gusella
James F. Gusella Harvard University
Tetsuo Ashizawa
Tetsuo Ashizawa Houston Methodist
Russell L. Margolis
Russell L. Margolis Johns Hopkins University School of Medicine
Hong Jiang
Hong Jiang Central South University

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