Charcot–Marie–Tooth disease, psychiatric indicators and quality of life: a systematic review

por Cordeiro, Joana L.C., Marques, Wilson, Hallak, Jaime E.C., Osório, Flávia L.
Publicado 2014

Balance and muscle power of children with Charcot-Marie-Tooth

por Silva, Tais R., Testa, Amanda, Baptista, Cyntia R. J. A., Marques, Wilson, Mattiello-Sverzut, Ana C.
Publicado 2014

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease

por Pedroso, José Luiz, Rocha, Clarissa R.R., Macedo-Souza, Lucia I., De Mario, Vitor, Marques, Wilson, Barsottini, Orlando G.P., Bulle Oliveira, Acary S., Menck, Carlos F.M., Kok, Fernando
Publicado 2015

Alterations in the stomatognathic system due to amyotrophic lateral sclerosis

por Gonçalves, Lígia Maria Napolitano, Palinkas, Marcelo, Hallak, Jaime Eduardo Cecilio, Marques, Wilson, de Vasconcelos, Paulo Batista, Frota, Nicolly Parente Ribeiro, Regalo, Isabela Hallak, Siéssere, Selma, Regalo, Simone Cecilio Hallak
Publicado 2018

Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph Disease

por França, Marcondes C., Emmel, Vanessa E., D’Abreu, Anelyssa, Maurer-Morelli, Cláudia V., Secolin, Rodrigo, Bonadia, Luciana Cardoso, da Silva, Marilza Santos, Nucci, Anamarli, Jardim, Laura Bannach, Saraiva-Pereira, Maria Luiza, Marques, Wilson, Paulson, Henry, Lopes-Cendes, Iscia
Publicado 2012

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

por Faber, Ingrid, Martinez, Alberto Rolim Muro, de Rezende, Thiago Junqueira Ribeiro, Martins, Carlos Roberto, Martins, Melina Pazian, Lourenço, Charles Marques, Marques, Wilson, Montecchiani, Celeste, Orlacchio, Antonio, Pedroso, Jose Luiz, Barsottini, Orlando Graziani Povoas, Lopes-Cendes, Íscia, França, Marcondes Cavalcante
Publicado 2018

Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis

por Borghetti, Vinicius Stefani, Cintra, Vívian Pedigone, Ramos, Jean de Oliveira, Marques, Vanessa Daccach, Onofre, Patrícia Toscano, Santana, Victor Augusto Souza, Bezerra, Lua Flora Pereira, Tomaselli, Pedro José, dos Santos, André Cleriston José, Sobreira, Claudia Ferreira da Rosa, Marques, Wilson
Publicado 2022

Leprosy in a prison population: A new active search strategy and a prospective clinical analysis

por Bernardes Filho, Fred, Santana, Jaci Maria, de Almeida, Regina Coeli Palma, Voltan, Glauber, de Paula, Natália Aparecida, Leite, Marcel Nani, Silva, Claudia Maria Lincoln, Tormena, Camila, Basoli, Lean, Menezes, Joelma, da Silva, Moises Batista, Spencer, John Stewart, Marques, Wilson, Foss, Norma Tiraboschi, Frade, Marco Andrey Cipriani
Publicado 2020

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

por Novis, Luiz Eduardo, Frezatti, Rodrigo S., Pellerin, David, Tomaselli, Pedro J., Alavi, Shahryar, Della Coleta, Marcus Vinícius, Spitz, Mariana, Dicaire, Marie-Josée, Iruzubieta, Pablo, Pedroso, José Luiz, Barsottini, Orlando, Cortese, Andrea, Danzi, Matt C., França, Marcondes C., Brais, Bernard, Zuchner, Stephan, Houlden, Henry, Raskin, Salmo, Marques, Wilson, Teive, Helio A.
Publicado 2023

Antecedent infections in Guillain‐Barré syndrome in endemic areas of arbovirus transmission: A multinational case‐control study

por Leonhard, Sonja E., Tan, Cheng Yin, van der Eijk, Annemiek A., Reisin, Ricardo R., Franken, Suzanne C., Huizinga, Ruth, Arends, Samuel, Batstra, Manou R., Bezerra Jeronimo, Selma M., Drenthen, Judith, de Koning, Laura, Leon Cejas, Luciana, Marchesoni, Cintia, Marques, Wilson, Shahrizaila, Nortina, Casas, Dardo F., Sotelo, Andrea, Tillard, Belen, Dourado, Mario‐Emilio, Jacobs, Bart C.
Publicado 2021

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

por Pinto, Marcus Vinicius, França, Marcondes Cavalcante, Gonçalves, Marcus Vinicius Magno, Machado-Costa, Marcela Câmara, Freitas, Marcos Raimundo Gomes de, Gondim, Francisco de Assis Aquino, Marrone, Carlo Domenico, Martinez, Alberto Rolim Muro, Moreira, Carolina Lavigne, Nascimento, Osvaldo J. M., Covaleski, Anna Paula Paranhos, Oliveira, Acary Souza Bulle de, Pupe, Camila Castelo Branco, Rodrigues, Marcia Maria Jardim, Rotta, Francisco Tellechea, Scola, Rosana Herminia, Marques, Wilson, Waddington-Cruz, Márcia
Publicado 2023

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

por Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea
Publicado 2023

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

por Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M
Publicado 2020

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

por Mendonça, Rodrigo de Holanda, Matsui, Ciro, Polido, Graziela Jorge, Silva, André Macedo Serafim, Kulikowski, Leslie, Torchio Dias, Alexandre, Zanardo, Evelin Aline, Solla, Davi Jorge Fontoura, Gurgel-Giannetti, Juliana, de Moura, Ana Carolina Monteiro Lessa, Sampaio, Gabriela Palhares Campolina, Oliveira, Acary Souza Bulle, de Souza, Paulo Victor Sgobbi, Pinto, Wladimir Bocca Vieira de Rezende, Gonçalves, Eduardo Augusto, Farias, Igor Braga, Nardes, Flávia, Araújo, Alexandra Prufer de Queiroz Campos, Marques, Wilson, Tomaselli, Pedro José, Ribeiro, Mara Dell Ospedale, Kitajima, João Paulo, Paoli Monteiro, Fabíola, Saute, Jonas Alex Morales, Becker, Michele Michelin, Saraiva-Pereira, Maria Luiza, Brusius-Facchin, Ana Carolina, van der Linden, Vanessa, Florêncio, Rodrigo Neves, Barbosa, André Vinícius Soares, Machado-Costa, Marcela Camara, Pessoa, André Luiz Santos, Souza, Leticia Silva, Franca, Marcondes Cavalcante, Kok, Fernando, Reed, Umbertina Conti, Zanoteli, Edmar
Publicado 2020

Posicionamento sobre Diagnóstico e Tratamento da Amiloidose Cardíaca – 2021

por Simões, Marcus V., Fernandes, Fabio, Marcondes-Braga, Fabiana G., Scheinberg, Philip, Correia, Edileide de Barros, Rohde, Luis Eduardo P., Bacal, Fernando, Alves, Silvia Marinho Martins, Mangini, Sandrigo, Biolo, Andréia, Beck-da-Silva, Luis, Szor, Roberta Shcolnik, Marques, Wilson, Oliveira, Acary Souza Bulle, Cruz, Márcia Waddington, Bueno, Bruno Vaz Kerges, Hajjar, Ludhmila Abrahão, Issa, Aurora Felice Castro, Ramires, Felix José Alvarez, Coelho, Otavio Rizzi, Schmidt, André, Pinto, Ibraim Masciarelli Francisco, Rochitte, Carlos Eduardo, Vieira, Marcelo Luiz Campos, Mesquita, Cláudio Tinoco, Ramos, Celso Dario, Soares-Junior, José, Romano, Minna Moreira Dias, Mathias, Wilson, Garcia, Marcelo Iório, Montera, Marcelo Westerlund, de Melo, Marcelo Dantas Tavares, Silva, Sandra Marques e, Garibaldi, Pedro Manoel Marques, de Alencar, Aristóteles Comte, Lopes, Renato Delascio, de Ávila, Diane Xavier, Viana, Denizar, Saraiva, José Francisco Kerr, Canesin, Manoel Fernandes, de Oliveira, Glaucia Maria Moraes, Mesquita, Evandro Tinoco
Publicado 2021

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

por Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Romero Sánchez, Juan, Suthar, Renu, Udani, Vrajesh, Nalini, Atchayaram, Unnikrishnan, Gopikrishnan, Marques, Wilson, Mercier, Sandra, Procaccio, Vincent, Bris, Céline, Suresh, Beena, Reddy, Vaishnavi, Skorupinska, Mariola, Bonello-Palot, Nathalie, Mochel, Fanny, Dahl, Georg, Sasidharan, Karthika, Devassikutty, Fiji M, Nampoothiri, Sheela, Rodovalho Doriqui, Maria J, Müller-Felber, Wolfgang, Vill, Katharina, Haack, Tobias B, Dufke, Andreas, Abele, Michael, Stucka, Rolf, Siddiqi, Saima, Ullah, Noor, Spranger, Stephanie, Chiabrando, Deborah, Bolgül, Behiye S, Parman, Yesim, Seeman, Pavel, Lampert, Angelika, Schulz, Jörg B, Wood, John N, Cox, James J, Auer-Grumbach, Michaela, Timmerman, Vincent, de Winter, Jonathan, Themistocleous, Andreas C, Shy, Michael, Bennett, David L, Baets, Jonathan, Hübner, Christian A, Leipold, Enrico, Züchner, Stephan, Elbracht, Miriam, Çakar, Arman, Senderek, Jan, Hornemann, Thorsten, Woods, C Geoffrey, Reilly, Mary M, Kurth, Ingo
Publicado 2023

Neuromuscular disease genetics in under-represented populations: increasing data diversity

por Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G
Publicado 2023