Prevalence of Machado-Joseph disease (MJD/SCA3) explained by migration and multiple founder effects

Autor: Martins, S., Costa, I. P. D., Giunti, P., Watanabe, M., Sasaki, H., Almeida, B. C., Amorim, A., Gaspar, C., Nicholson, G., Saraiva-Pereira, M. L., Tsuji, S., Li, Q., Chen, S., Landoure, G., Maciel, P., Zaltzman, R., Sharony, R., Zhou, Y., Barros, J., Loureiro, J. L., Cruz, V. T., Ruano, L., Brunt, E. R. P., Corral-Juan, M. Marc, Hsieh, M., Tranebjaerg, L., Olajumoke, O., Ogun, S. A., Finkel, M. F., Gordon, C., Cornejo-Olivas, M., Fischbeck, K., Matilla-Duenas, A., Volpini, V., Riess, O., Wu, Z., Rouleau, G. A., Jardim, L. B., Giovanni Stevanin, Brice, A., Coutinho, P., Soong, B., Ranum, L. P., Durr, A., Sequeiros, J.

Publikováno v: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4a28b6668adcf3df2ca3b0f872c4c6fb
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=4950

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

Autor: Loureiro, J. L.^1,2, Miller-Fleming, L.¹, Thieleke-Matos, C.¹, Magalhães, P.¹, Cruz, V. T.², Coutinho, P.^1,3, Sequeiros, J.³, Silveira, I.¹ isilveir@ibmc.up.pt

Publikováno v: Acta Neurologica Scandinavica. Feb2009, Vol. 119 Issue 2, p113-118. 6p. 1 Diagram, 1 Chart, 1 Graph.

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Peritonite por aspergillus flavus em criança em diálise peritoneal em uso de eculizumabe: relato de caso. (Portuguese)

Autor: Batistela, V. C. S., Watanabe, A., Loureiro, J. L., Junior, A. R.

Publikováno v: Brazilian Journal of Nephrology / Jornal Brasileiro de Nefrologia; 2017 Supplement, Vol. 39, p61-61, 1/2p

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Autor: Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine

International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large ser

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c4642c4e5d177527da8016ea948e04
https://hal.umontpellier.fr/hal-03369330