Leonor Correia Guedes (J Sequeiros, Jorge Sequeiros)

Scopus Author ID Loop profile Ciência ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 17

Top Topics

Dna Methylation

Top Venues

Acta neuropathologica

European journal of human genetics : EJHG

Scientific reports

Journal of community genetics

This page only lists publications with an associated author ORCID identifier.

Publications

José D Pereira, Catarina Costa, Andreia Santos, Marina Serra de Lemos, Leonor Correia Guedes, Milena Paneque, Álvaro Mendes
"Living with a question mark": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy. Journal of community genetics (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Jonasz Jeremiasz Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana Dilara Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Leonor Correia Guedes, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante de França Junior, Carlos R Gordon, Roy Zaltzman, Mario R Cornejo-Olivas, Bart P C van de Warrenburg, Alexandra Dürr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf H Rieß, null null, Thorsten Schmidt
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy. Acta neuropathologica 148 (1) (2024)
Sandra Martins, Ashraf Yahia, Inês P D Costa, Hassab E Siddig, Rayan Abubaker, Mahmoud E Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Dürr, Eric Leguern, Laura P W Ranum, Antonio Amorim, Liena E O Elsayed, Giovanni Stevanin, Leonor Correia Guedes
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 (2023)
Joana Damásio, Clara Barbot, Rui Felgueiras, Ana Filipa Brandão, José Barros, Jorge Oliveira, Leonor Correia Guedes
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 (5) (2023)
Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, José Barros, José Brás, Jorge Sequeiros, Rita Guerreiro
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia. Cells 11 (6) (2022)
Hélio Augusto Guizoni Teive, Léo Coutinho, Joaquim José Ferreira, Leonor Correia Guedes
Professor Paula Coutinho (1941-2022). Arquivos de neuro-psiquiatria 80 (8) (2022)
Carla Roma Oliveira, Álvaro Mendes, Leonor Correia Guedes, Liliana X Sousa
Role of older generations in the family's adjustment to Huntington disease. Journal of community genetics 12 (3) (2021)
Álvaro Mendes, Leonor Correia Guedes, Angus John Clarke
Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases. Journal of genetic counseling 30 (5) (2021)
Miguel Alves-Ferreira, Ana Azevedo, Teresa Coelho, Diana Santos, Leonor Correia Guedes, Isabel Alonso, Alda Sousa, Carolina Lemos
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 28 (2) (2021)
Carla Roma Oliveira, Álvaro Mendes, Leonor Correia Guedes, Liliana Sousa
Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together. European journal of human genetics : EJHG 28 (9) (2020)
Mariana Santos, Joana Damásio, Celia Kun-Rodrigues, Clara Barbot, Leonor Correia Guedes, José Brás, Isabel Alonso, Rita Guerreiro
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype. Journal of clinical medicine 9 (4) (2020)
Mariana Santos, Sara Morais, Conceição Pereira, Leonor Correia Guedes, Isabel Alonso
Parkin truncating variants result in a loss-of-function phenotype. Scientific reports 9 (1) (2019)
Reuven Sharony, Sandra Martins, Inês P D Costa, Roy Zaltzman, Antonio Amorim, Leonor Correia Guedes, Carlos R Gordon
Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor. European journal of human genetics : EJHG 27 (11) (2019)
X Zhou, C Wang, D Ding, Z Chen, Y Peng, H Peng, X Hou, P Wang, X Hou, W Ye, T Li, H Yang, R Qiu, K Xia, Leonor Correia Guedes, B Tang, H Jiang
Analysis of (CAG)n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy. Scientific reports 8 (1) (2018)
Álvaro Mendes, Milena Paneque, Angus John Clarke, Leonor Correia Guedes
Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. European journal of human genetics : EJHG 27 (3) (2018)