Results 21 to 30 of about 6,842,995 (191)

Paula Coutinho’s outstanding contribution to the definition of Machado-Joseph disease

Arquivos de Neuro-Psiquiatria, 2017
Machado-Joseph disease, also known as spinocerebellar ataxia type 3, is the most common form of autosomal dominant ataxia in the world. Paula Coutinho, a highly-regarded Portuguese neurologist worldwide, had a seminal participation in the definition of ...
Bruno Carniatto Marques Garcia, Francisco Manoel Branco Germiniani, Paula Marques, Jorge Sequeiros, Hélio Afonso Ghizoni Teive   +4 more
doaj   +3 more sources

Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? [PDF]

Frontiers in Genetics, 2019
Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1–5/100,000. To this date, two major ancestral lineages have been found throughout the world.
Tianjiao Li, Sandra Martins, Yun Peng, Puzhi Wang, Xiaocan Hou, Zhao Chen, Chunrong Wang, Zhaoli Tang, Rong Qiu, Chao Chen, Zhengmao Hu, Kun Xia, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Jorge Sequeiros, Hong Jiang, Hong Jiang, Hong Jiang   +22 more
doaj   +2 more sources

State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change [PDF]

Genetics and Molecular Biology, 2019
Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment.
Gabriel Vasata Furtado, Camila Maria de Oliveira, Gabriela Bolzan, Jonas Alex Morales Saute, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim   +5 more
doaj   +2 more sources

Muscle excitability abnormalities in Machado-Joseph disease [PDF]

Archives of Neurology, 2015
Objectives: To estimate the frequency of and to characterize muscle excitability abnormalities in Machado-Joseph disease (MJD). Design: Machado-Joseph disease is a common autosomal dominant cerebellar ataxia caused by an unstable CAG trinucleotide repeat
Nucci, A, Franca, MC, DAbreu, A, Lopes-Cendes, I   +3 more
core   +3 more sources

Sentinel Node Biopsy and Lumpectomy in a Patient with Machado–Joseph Disease [PDF]

Case Reports in Anesthesiology, 2019
Spinocerebellar ataxia 3 (SCA3), also known as Machado–Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time.
N. N. Aldawoodi, A. R. Escher Jr., A. Padalia, D. Padalia   +3 more
doaj   +2 more sources

Cerebral cortex involvement in Machado-Joseph disease

European Journal of Neurology, 2015
FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOCAPES - COORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIORCNPQ - CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICOBackground and purpose: Machado-Joseph disease (MJD/SCA3 ...
Rezende, T. J. R. de, D'Abreu, A, França, M C, Lopes-Cendes, I., Guimarães, R P, Lopes, T. M., Cendes, F., Castellano, G., Lopes-Cendes, I, Guimarães, R. P., Castellano, G, D'Abreu, A., Lopes, T M, Cendes, F, de Rezende, T J R, França Jr., M. C.   +15 more
core   +3 more sources

T2-hyperintensity in the internal globus pallidus in Machado-Joseph disease [PDF]

Arquivos de Neuro-Psiquiatria, 2023
Alex T. Meira, Jorge E. D. Araruna, Lais Vieira Araujo, Raíssa N. L. F. Leite, Gustavo L. Franklin, Adriana M. T. Nepomuceno, Hélio A. G. Teive   +6 more
doaj   +2 more sources

Spinal cord damage in Machado-Joseph disease

The Cerebellum, 2015
Machado-Joseph disease (SCA3) is the most frequent spinocerebellar ataxia worldwide and characterized by remarkable phenotypic heterogeneity. MRI-based studies in SCA3 focused in the cerebellum and connections, but little is known about cord damage in ...
Lopes-Cendes, Iscia, Bergo, F.P.G., Franca, M.C., Fahl, Camila N, Bergo, Felipe P G, Branco, Lucas Melo T, França, Marcondes C, D'Abreu, A., Lopes-Cendes, I., Fahl, C.N., D'Abreu, Anelyssa, Branco, L.M.T.   +11 more
core   +3 more sources

Importin-8 silencing reduces Ataxin-3 aggregation and alleviates Machado-Joseph disease/spinocerebellar ataxia type 3. [PDF]

iScience
Dataset for: Importin-8 silencing reduces Ataxin-3 aggregation and alleviates Machado-Joseph disease/Spinocerebellar ataxia type 3 This repository contains the supplementary data and unprocessed raw datasets supporting the study of nucleocytoplasmic ...
Morgado Martins I, Sowa AS, Rufino-Ramos D, Duarte Lobo D, Leandro K, Vasconcelos-Ferreira A, Pereira D, Rieβ O, Schmidt T, Pereira de Almeida L.   +9 more
europepmc   +2 more sources

Progression of Ataxia in Patients with Machado-Joseph Disease

Movement Disorders, 2015
Although ataxia is the most distressing manifestation of Machado-Joseph disease (MJD), little is known about its natural history. Therefore, we prospectively followed a cohort of patients with MJD for 13 months to characterize the progression of ataxia ...
Nucci, A, D'Abreu, A, Franca, MC, Cendes, F, Lopes-Cendes, I   +4 more
core   +3 more sources