Search Results - "Marcondes, C. França"

Structural signature of SCA3: From presymptomatic to late disease stages by Rezende, Thiago Junqueira Ribeiro, de Paiva, Jean Levi Ribeiro, Martinez, Alberto Rolim Muro, Lopes‐Cendes, Iscia, Pedroso, José Luiz, Barsottini, Orlando Graziani Povoas, Cendes, Fernando, França, Marcondes C.

“…Objective Machado–Joseph disease (SCA3/MJD) is the most frequent spinocerebellar ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar…”
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Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of DMD pathogenic variants by Loureiro, Bruna Melo Coelho, de Brito, Mariana Rabelo, Iwabe, Cristina, Dertkigil, Sergio San Juan, França, Jr, Marcondes C

“…Carriers of DMD pathogenic variants may become symptomatic and develop muscle-related manifestations. Despite that, few studies have attempted to characterize…”
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A‐waves are associated with neuropathic pain in leprosy by Garbino, José Antônio, Kirchner, Daniel R., França, Marcondes C.

“…Introduction/Aims The A‐wave is a late response related either to demyelination or early axonal regeneration. It may be helpful in the evaluation of some…”
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MicroRNAs-424 and 206 are potential prognostic markers in spinal onset amyotrophic lateral sclerosis by de Andrade, Helen M.T, de Albuquerque, Milena, Avansini, Simoni H, de S. Rocha, Cristiane, Dogini, Danyella B, Nucci, Anamarli, Carvalho, Benilton, Lopes-Cendes, Iscia, França, Marcondes C

“…Abstract Introduction Skeletal muscle microRNAs (miRNAs) are potential candidate biomarkers for amyotrophic l ateral s clerosis (ALS) that deserve further…”
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A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System by Souza, Paulo Victor Sgobbi, Haselkorn, Tmirah, Baima, Jader, Oliveira, Renato Watanabe, Hernández, Fabián, Birck, Marina G, França, Jr, Marcondes C

“…X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the…”
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Tract‐Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia by Hernandez, Ana Luisa C.C., Rezende, Thiago J.R., Martinez, Alberto R.M., Brito, Mariana R., França, Marcondes C.

“…Background Spinal cord (SC) damage is a hallmark in Friedreich's ataxia (FRDA). Neuroimaging has been able to capture some SC macroscopic changes, but no study…”
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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis by Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

“…BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and…”
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A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3 by Guimarães, Rachel P., D'Abreu, Anelyssa, Yasuda, Clarissa L., França Jr, Marcondes C., Silva, Beatriz H. B., Cappabianco, Fabio A.M., Bergo, Felipe P.G., Lopes-Cendes, Iscia T., Cendes, Fernando

“…ABSTRACT Although white matter damage may play a major role in the pathogenesis of spinocerebellar ataxia 3 (SCA3), available data rely exclusively upon…”
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Clinical Neurophysiology of Zika Virus–Related Disorders of the Peripheral Nervous System in Adults by González-Salazar, Carelis, Tartaglia, Jordana Sartori, Teixeira Dourado, Mario Emilio, França, Marcondes C.

“…During the 2013 to 2016 outbreak in the Pacific and Americas, Zika virus infection resulted not only in febrile and cutaneous manifestations but also in…”
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Pre-clinical left ventricular myocardial remodeling in patients with Friedreich's ataxia: A cardiac MRI study by Takazaki, Karen A G, Quinaglia, Thiago, Venancio, Thiago D, Martinez, Alberto R M, Shah, Ravi V, Neilan, Tomas G, Jerosch-Herold, Michael, Coelho-Filho, Otávio R, França, Jr, Marcondes C

“…Heart Failure (HF) is the most common cause of death in Friedreich's ataxia (FRDA), an inherited mitochondrial disease. Myocardial fibrosis and myocardial…”
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Amyotrophic lateral sclerosis type 8 is not a pure motor disease: evidence from a neuropsychological and behavioural study by de Alcântara, Cássia, Cruzeiro, Marcelo Maroco, França, Marcondes C., Camargos, Sarah Teixeira, de Souza, Leonardo Cruz

“…Objective Amyotrophic lateral sclerosis type 8 (ALS8) is a familial form of motor neuron disease, with predominance of lower motor neuron degeneration, and is…”
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Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia — The SPASTOX Trial by Diniz de Lima, Fabricio, Faber, Ingrid, Servelhere, Katiane R., Bittar, Maria Fernanda R., Martinez, Alberto R.M., Piovesana, Luiza G., Martins, Melina P., Martins, Carlos Roberto, Benaglia, Tatiana, Sá Carvalho, Benilton, Nucci, Anamarli, França, Marcondes C.

“…Background Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management…”
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Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes by Servelhere, Katiane R., Rezende, Thiago Junqueira Ribeiro, Lima, Fabrício Diniz, Brito, Mariana Rabelo, França Nunes, Renan Flávio, Casseb, Raphael F., Pedroso, José Luiz, Barsottini, Orlando Graziani P., Cendes, Fernando, França, Marcondes C.

“…ABSTRACT Background Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting evidence indicates that…”
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Genetic epidemiology of familial ALS in Brazil by Nunes Gonçalves, João Pedro, Leoni, Tauana Bernardes, Martins, Melina Pazian, Peluzzo, Thiago Mazzo, Dourado, Mario Emílio T., Saute, Jonas Alex M., Paranhos Miranda Covaleski, Anna Paula, Bulle de Oliveira, Acary Souza, Claudino, Rinaldo, Marques, Wilson, Nucci, Anamarli, França, Marcondes C.

“…Many genes associated with familial forms of the amyotrophic lateral sclerosis (fALS) have been identified in European and North American cohorts. However,…”
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Language impairment in sporadic and familial (type 8) amyotrophic lateral sclerosis: A comparative study by Araújo, Caroline M., Alcântara, Cássia, Alencar, Mariana A., da Gama, Natália A. S., Cruzeiro, Marcelo M., França, Marcondes C., Jaeger, Antônio, Camargos, Sarah T., Machado, Thais H., Souza, Leonardo Cruz

“…Introduction/Aims Language is frequently affected in patients with sporadic amyotrophic lateral sclerosis (sALS), with reduced performance in naming, syntactic…”
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Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers by Rezende Filho, Flávio Moura, Bremner, Fion, Pedroso, José Luiz, Andrade, João Brainer Clares, Marianelli, Bruna Ferraço, Lourenço, Charles Marques, Marques‐Júnior, Wilson, França, Marcondes C., Kok, Fernando, Sallum, Juliana M.F., Parkinson, Michael H., Barsottini, Orlando G., Giunti, Paola

“…ABSTRACT Background Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically…”
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Laryngeal electromyography in amyotrophic lateral sclerosis by Martins, Melina Pazian, de Lima, Fabrício Diniz, Bernardes Leoni, Tauana, Martinez, Alberto R M, Nubiato Crespo, Agricio, André Teixeira Kimaid, Paulo, Nucci, Anamarli, de Carvalho, Mamede, França Jr, Marcondes C

“…BackgroundBulbar involvement is a hallmark of amyotrophic lateral sclerosis (ALS), but surprisingly very few studies have addressed the frequency, pattern and…”
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Clinical Neurophysiology of Zika Virus Infection by Caboclo, Luis Otavio, França, Marcondes C.

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Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study by Rezende, Thiago Junqueira Ribeiro, Adanyaguh, Isaac, Barsottini, Orlando G P, Bender, Benjamin, Cendes, Fernando, Coutinho, Leo, Deistung, Andreas, Dogan, Imis, Durr, Alexandra, Fernandez-Ruiz, Juan, Göricke, Sophia L, Grisoli, Marina, Hernandez-Castillo, Carlos R, Lenglet, Christophe, Mariotti, Caterina, Martinez, Alberto R M, Massuyama, Breno K, Mochel, Fanny, Nanetti, Lorenzo, Nigri, Anna, Ono, Sergio E, Öz, Gülin, Pedroso, José Luiz, Reetz, Kathrin, Synofzik, Matthis, Teive, Helio, Thomopoulos, Sophia I, Thompson, Paul M, Timmann, Dagmar, van de Warrenburg, Bart P C, van Gaalen, Judith, França, Marcondes C, Harding, Ian H

“…BackgroundSpinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity…”
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Movement disorders in hereditary spastic paraplegias by Pedroso, Jose Luiz, Vale, Thiago Cardoso, Freitas, Julian Letícia de, Araújo, Filipe Miranda Milagres, Meira, Alex Tiburtino, Neto, Pedro Braga, França, Marcondes C., Tumas, Vitor, Teive, Hélio A. G., Barsottini, Orlando G. P.

“…Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by…”
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