CAG repeats ≥ 34 in Ataxin-1 gene are associated with amyotrophic lateral sclerosis in a Brazilian cohort

Autor: Gonçalves, João Pedro Nunes, de Andrade, Helen Maia Tavares, Cintra, Vívian Pedigone, Bonadia, Luciana Cardoso, Leoni, Tauana Bernardes, de Albuquerque, Milena, Martins, Melina Pazian, de Borba, Fabrício Castro, Couteiro, Rafael Esteves Duarte, de Oliveira, Daniel Sabino, Claudino, Rinaldo, Gonçalves, Marcos Vinicius Magno, Dourado, Mario Emilio, de Souza, Leonardo Cruz, Teixeira, Antônio Lúcio, de Godoy Rousseff Prado, Laura, Tumas, Vitor, Oliveira, Acary Souza Bulle, Nucci, Anamarli, Lopes-Cendes, Iscia, Marques, Wilson, Jr., França, Marcondes C., Jr.

Publikováno v: In Journal of the Neurological Sciences 15 July 2020 414

A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

Autor: Daniele Tolomeo, Chantal Depondt, Teresa Ravizza, Reetta Kälviäinen, Jose C. Pariente, Renzo Guerrini, Jan Wagner, Guohao Zhang, Paul M. Thompson, Niels K. Focke, Pia Auvinen, Christopher D. Whelan, Derrek P. Hibar, Philippe David, Magdalena A. Kowalczyk, Neda Bernasconi, Matteo Lenge, Martin Domin, Rhys H. Thomas, Edoardo Micotti, Shuai Chen, Peter Kochunov, Felix von Podewils, Domenico Tortora, Antonio Gambardella, Manuela Tondelli, Andrea Cherubini, Costin Leu, Simon S. Keller, Wendy Franca, Stefano Meletti, Andrea Bernasconi, Pasquale Striano, Rossella Di Sapia, Andreja Avbersek, Thomas Thesen, Khalid Hamandi, Luis Concha, Mario Mascalchi, Clarissa L. Yasuda, Neda Jahanshad, Patrick Kwan, Min Liu, Marcia Morita-Sherman, Alyma Somani, Mina Ryten, Dmitry Isaev, Gabriele Ruffolo, Ruben Kuzniecky, Chad Carlson, Anna Calvo, Angelo Labate, Colin P. Doherty, Mark P. Richardson, Milica Cerovic, Raviteja Kotikalapudi, Sonya Foley, Felipe P. G. Bergo, Barbara Braga, Julie Absil, Graeme D. Jackson, Sarah J. A. Carr, Boris C. Bernhardt, Núria Bargalló, Roland Wiest, Mira Semmelroch, Carrie R. McDonald, Martina Di Nunzio, Anna Elisabetta Vaudano, Raúl Rodríguez-Cruces, Mariasavina Severino, Marina K. M. Alvim, Taavi Saavalainen, Gianpiero L. Cavalleri, Eleonora Palma, Regina H. Reynolds, Pascal Martin, Christian Rummel, Andre Altmann, Tauana Bernardes, Fernando Cendes, Annamaria Vezzani, Soenke Langner, Norman Delanty, Sanjay M. Sisodiya, Karen Blackmon, Valentina Iori, Terence J. O'Brien, Orrin Devinsky, Maria Eugenia Caligiuri, Jian Chen, Bernd Weber, Junsong Zhang, Emanuele Bartolini, Marco Bacigaluppi, Benjamin Bender, Maria Thom, Lucy Vivash, Juan A. Botía, Saud Alhusaini

Publikováno v: Neuropathol Appl Neurobiol
Neuropathology and Applied Neurobiology
Altmann, Andre; Ryten, Mina; Di Nunzio, Martina; Ravizza, Teresa; Tolomeo, Daniele; Reynolds, Regina H; Somani, Alyma; Bacigaluppi, Marco; Iori, Valentina; Micotti, Edoardo; Di Sapia, Rossella; Cerovic, Milica; Palma, Eleonora; Ruffolo, Gabriele; Botía, Juan A; Absil, Julie; Alhusaini, Saud; Alvim, Marina K M; Auvinen, Pia; Bargallo, Nuria; ... (2022). A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies. Neuropathology and Applied Neurobiology, 48(1), e12758. Wiley 10.1111/nan.12758

Aims\ud The causes of distinct patterns of reduced cortical thickness in the common human epilepsies, detectable on neuroimaging and with important clinical consequences, are unknown. We investigated the underlying mechanisms of cortical thinning usi

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Genetic epidemiology of familial ALS in Brazil

Autor: Jonas Alex Morales Saute, João Pedro Nunes Gonçalves, Anna Paula Paranhos Miranda Covaleski, Wilson Marques, Thiago Mazzo Peluzzo, Melina Pazian Martins, Mario Emilio Dourado, Rinaldo Claudino, Marcondes C. França, Tauana Bernardes Leoni, Acary Souza Bulle Oliveira, Anamarli Nucci

Publikováno v: Neurobiology of aging. 102

Many genes associated with familial forms of the amyotrophic lateral sclerosis (fALS) have been identified in European and North American cohorts. However, little is known about the genetic bases of fALS in Latin America and Brazil, in particular. To

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9aed5dd49aa9a5750d310e69e022c3c
https://pubmed.ncbi.nlm.nih.gov/33618928

Laryngeal electromyography in amyotrophic lateral sclerosis

Autor: Tauana Bernardes Leoni, Marcondes C. França, Fabrício Diniz de Lima, Melina Pazian Martins, Paulo André Teixeira Kimaid, Alberto R. M. Martinez, Anamarli Nucci, Agrício Nubiato Crespo, Mamede de Carvalho

Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 91(7)

BackgroundBulbar involvement is a hallmark of amyotrophic lateral sclerosis (ALS), but surprisingly very few studies have addressed the frequency, pattern and clinical relevance of laryngeal involvement in the disease.MethodsTwenty-six patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5919c9bd49a70b9f790d532ee27f23a5
https://pubmed.ncbi.nlm.nih.gov/32317399