Cross-sectional survey study of the natural history of LAMA2-related dystrophy
Camelo, Clara Gontijo, Artilheiro, Mariana Cunha, Fernandes, Tatiana Ribeiro, Moreno, Cristiane de Araújo Martins, Fonseca, Alulin Tácio Quadros Santos Monteiro, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Clinical neurology and neurosurgery (01.10.2024)
Published in Clinical neurology and neurosurgery (01.10.2024)
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Journal Article
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS
Gelfman, Sahar, Dugger, Sarah, de Araujo Martins Moreno, Cristiane, Ren, Zhong, Wolock, Charles J, Shneider, Neil A, Phatnani, Hemali, Cirulli, Elizabeth T, Lasseigne, Brittany N, Harris, Tim, Maniatis, Tom, Rouleau, Guy A, Brown, Jr, Robert H, Gitler, Aaron D, Myers, Richard M, Petrovski, Slavé, Allen, Andrew, Goldstein, David B, Harms, Matthew B
Published in Genome research (01.05.2019)
Published in Genome research (01.05.2019)
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Journal Article
Whole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathology
Cavalcante, Wagner Cid Palmeira, da Silva, André Macedo Serafim, Mendonça, Rodrigo de Holanda, Moreno, Cristiane de Araújo Martins, Proença, Bruna Moreira de Souza, Guimarães, Júlio Brandão, Ormond Filho, Alípio Gomes, Zanoteli, Edmar
Published in Frontiers in neurology (23.04.2024)
Published in Frontiers in neurology (23.04.2024)
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Journal Article
Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients
Neto, Osorio Abath, de Araújo Martins Moreno, Cristiane, Malfatti, Edoardo, Donkervoort, Sandra, Böhm, Johann, Guimarães, Júlio Brandão, Foley, A. Reghan, Mohassel, Payam, Dastgir, Jahannaz, Bharucha-Goebel, Diana Xerxes, Monges, Soledad, Lubieniecki, Fabiana, Collins, James, Medne, Līvija, Santi, Mariarita, Yum, Sabrina, Banwell, Brenda, Salort-Campana, Emmanuelle, Rendu, John, Fauré, Julien, Yis, Uluc, Eymard, Bruno, Cheraud, Chrystel, Schneider, Raphaël, Thompson, Julie, Lornage, Xaviere, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Reed, Umbertina Conti, Oliveira, Acary Souza Bulle, Biancalana, Valérie, Romero, Norma B, Bönemann, Carsten G, Laporte, Jocelyn, Zanoteli, Edmar
Published in Neuromuscular disorders : NMD (01.11.2017)
Published in Neuromuscular disorders : NMD (01.11.2017)
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Journal Article
Severe progressive brain involvement in a patient with TRMT10C mutation
CAMELO, Clara Gontijo, SILVA, André Macedo Serafim, ROCHA, Antônio José, SCARAMUZZI, Vinicius, MORENO, Cristiane de Araújo Martins, REED, Umbertina Conti, ZANOTELI, Edmar
Published in Arquivos de neuro-psiquiatria (01.03.2021)
Published in Arquivos de neuro-psiquiatria (01.03.2021)
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Journal Article
Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation
Abath Neto, Osorio, Heise, Carlos Otto, Moreno, Cristiane de Araújo Martins, Estephan, Eduardo de Paula, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Oliveira, Acary Souza Bulle, Reed, Umbertina Conti, Biancalana, Valérie, Laporte, Jocelyn, Zanoteli, Edmar
Published in Canadian journal of neurological sciences (01.01.2017)
Published in Canadian journal of neurological sciences (01.01.2017)
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Journal Article
Hypoglycemia in Patients With LAMA2-CMD
Camelo, Clara Gontijo, Martins Moreno, Cristiane de Araújo, Artilheiro, Mariana Cunha, Serafim Silva, André Macedo, Quadros Monteiro Fonseca, Alulin Tácio, Mendonça de Holanda, Rodrigo, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Pediatric neurology (01.06.2023)
Published in Pediatric neurology (01.06.2023)
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Journal Article
Genetic profile of Brazilian patients with LAMA2‐related dystrophies
Camelo, Clara Gontijo, Moreno, Cristiane de Araujo Martins, Artilheiro, Mariana da Cunha, Fonseca, Alulin Tácio Quadros Monteiro, Gurgel Gianetti, Juliana, Barbosa, André Vinícius, Donis, Karina Carvalho, Saute, Jonas Alex Morales, Pessoa, André, Van der Linden, Hélio, Gonçalves, Ana Rita Alcântara, Kulikowski, Leslie Domenici, Kok, Fernando, Zanoteli, Edmar
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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Journal Article
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature
Moreno, Cristiane de Araújo Martins, Abath Neto, Osório, Donkervoort, Sandra, Hu, Ying, Reed, Umbertina Conti, Oliveira, Acary Sousa Bulle, Bönnemann, Carsten, Zanoteli, Edmar
Published in Pediatric neurology (01.10.2017)
Published in Pediatric neurology (01.10.2017)
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Journal Article
Clinical and histological findings in ACTA1 related nemaline myopathy: case series and review of literature
Moreno, Cristiane de Araújo Martins, MD, PhD, Abath Neto, Osório, MD, PhD, Donkervoort, Sandra, Hu, Ying, Reed, Umbertina Conti, MD, PhD, Oliveira, Acary Sousa Bulle, MD, PhD, Bönnemann, Carsten, MD, PhD, Zanoteli, Edmar, MD, PhD
Published in Pediatric neurology (2017)
Published in Pediatric neurology (2017)
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Journal Article
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Kenna, Kevin P., Chia, Ruth, Dominov, Janice A., Nalls, Mike A., van Vugt, Joke J.F.A., Simone, Isabella, Caredda, Carla, Milia, Antonio, Floris, Gianluca, Caponnetto, Claudia, Mandich, Paola, Mora, Gabriele, Sideri, Riccardo, Penco, Silvana, Mandrioli, Jessica, Trojsi, Francesca, Ticca, Anna, Ortu, Enzo, Pugliatti, Maura, Benigni, Michele, Brunetti, Maura, Marrali, Giuseppe, Riva, Nilo, Conforti, Francesca L., Messina, Sonia, D’Alfonso, Sandra, Baloh, Robert H., Penny, Michelle, Moreno, Cristiane de Araujo Martins, Chung, Wendy K., Cirulli, Elizabeth T., Harris, Tim, Krueger, Brian J., Lasseigne, Brittany N., McKenna-Yasek, Diane, Myers, Richard M., Pulst, Stefan M., Raphael, Alya R., Rouleau, Guy A., Sapp, Peter C., Waite, Lindsay L., Wang, Quanli, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Hornstein, Eran, Patsopoulos, Nikolaos A., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Baxi, Emily, LeNail, Alex, Benatar, Michael, Hussain, Sumaira, Swenson, Andrea, Jackson, Carlayne, So, Yuen, Wuu, Joanne, Silani, Vincenzo, Fogh, Isabella, Cereda, Cristina, Ceroni, Mauro, Mazzini, Letizia, Maderna, Luca, Sorarù, Gianni, Bernard, Emilien, Laaksovirta, Hannu, McKenna-Yasek, Diane, Asress, Seneshaw, Al-Sarraj, Safa, Scholz, Sonja W., MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Dunckley, Travis L., Troncoso, Juan C., Moisse, Matthieu, Drory, Vivian E., Turner, Martin R., Blair, Ian P., de Carvalho, Mamede, Hide, Winston, Glass, Jonathan, Mill, Jonathan, Newhouse, Stephen, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, van den Berg, Leonard, Williams, Kelly L., Zatz, Mayana, Rothstein, Jeffrey D., Simmons, Zachary, Van Damme, Philip, Sabatelli, Mario, Trojanowski, John Q., Brown, Robert H., Veldink, Jan H., Tienari, Pentti
Published in Neuron (Cambridge, Mass.) (21.03.2018)
Published in Neuron (Cambridge, Mass.) (21.03.2018)
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Journal Article
Severe progressive brain involvement in a patient with TRMT10C mutation
CAMELO, Clara Gontijo, SILVA, André Macedo Serafim, ROCHA, Antônio José, SCARAMUZZI, Vinicius, MORENO, Cristiane de Araújo Martins, REED, Umbertina Conti, ZANOTELI, Edmar
Published in Arquivos de neuro-psiquiatria (01.03.2021)
Published in Arquivos de neuro-psiquiatria (01.03.2021)
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Journal Article
Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy
Li, Emily, Emmanuele, Valentina, Testa, Francine, Moreno, Cristiane De Araujo Martins, Hirano, Michio, Lesser, Robert L
Published in Journal of neuro-ophthalmology (01.09.2020)
Published in Journal of neuro-ophthalmology (01.09.2020)
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Journal Article
Severe progressive brain involvement in a patient with TRMT10C mutation
Camelo, Clara Gontijo, Silva, André Macedo Serafim, Rocha, Antônio José, Scaramuzzi, Vinicius, Moreno, Cristiane de Araújo Martins, Reed, Umbertina Conti, Zanoteli, Edmar
Published in Arquivos de neuro-psiquiatria (01.03.2021)
Published in Arquivos de neuro-psiquiatria (01.03.2021)
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Regional collapsing of rare variation implicates specific genic regions in ALS
Gelfman, Sahar, Dugger, Sarah A, Cristiane Araujo Martins Moreno, Ren, Zhong, Wolock, Charles J, Shneider, Neil A, Phatnani, Hemali, Cirulli, Elizabeth T, Lasseigne, Brittany N, Harris, Tim, Maniatis, Tom, Rouleau, Guy A, Brown, Robert H, Gitler, Aaron D, Myers, Richard M, Petrovski, Slave, Allen, Andrew, Harms, Matthew B, Goldstein, David B
Published in bioRxiv (24.07.2018)
Published in bioRxiv (24.07.2018)
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