Results 41 to 50 of about 6,842,722 (107)

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease

, 2021
Polyglutamine diseases are a class of dominantly inherited neurodegenerative disorders for which there is no effective treatment. Here we provide evidence that activation of serotonergic signalling is beneficial in animal models of Machado-Joseph disease.
강수성
core   +1 more source

The perception of people with Machado-Joseph disease on how physiotherapy affects their quality of life [PDF]

, 2016
Este estudo teve como objetivo investigar a influência do tratamento fisioterapêutico na qualidade de vida a partir da percepção dos pacientes com Doença de Machado-Joseph.
Gerzson, Laís Rodrigues, Wolffenbüttel, Pâmela Iná, Almeida, Carla Skilhan de   +2 more
core   +1 more source

Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease

Article number - 158The authors thank the SCA3/MJD carriers who participated in the study.Dysphagia is a frequent symptom of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD), being associated with alterations in nutritional intake and ...
Melo, Ana Rosa Vieira, Pires, Paula, Lima, Manuela, Mota, Joana Paz, Raposo, Mafalda, Rodrigues, Inês Tello, Vasconcelos, João, Lopes, Pedro, Ferreira, Ana Filipa   +8 more
core   +1 more source

A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3

, 2017
Ataxin-3, the disease protein in Machado-Joseph disease, is known to be proteolytically modified by various enzymes including two major families of proteases, caspases and calpains.
Wanichawan, Pimthanya, Krahl, Ann-Christin, Nguyen, Huu P., Hayer, Stefanie N., Samer, Sebastian, Christian J. Gloeckner, Nagel, Maike, Stefan Hauser, Weber, Jonasz J., Schöls, Ludger, Riess, Olaf, Hübener-Schmid, Jeannette, Carlson, Cathrine R., Sebastian Samer, Ann-Christin Krahl, Guaitoli, Giambattista, Eleonora Aronica, Jonasz J. Weber, Ludger Schöls, Giambattista Guaitoli, Gloeckner, Christian J., Stefanie N. Hayer, Aronica, Eleonora, Huu P. Nguyen, Pimthanya Wanichawan, Cathrine R. Carlson, Jeannette Hübener-Schmid, Hauser, Stefan, Olaf Riess, Matthias Golla, Golla, Matthias, Maike Nagel   +31 more
core   +1 more source

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

, 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, Paula Marques, Francisco Manoel Branco Germiniani, Jorge Sequeiros, Hélio Afonso Ghizoni Teive   +4 more
core   +2 more sources

Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease. [PDF]

Cells, 2023
Ferreira AF, Raposo M, Shaw ED, Ashraf NS, Medeiros F, Brilhante MF, Perkins M, Vasconcelos J, Kay T, Costa MDC, Lima M.   +10 more
europepmc   +1 more source

Issue Information

Pulmonary Circulation, Volume 16, Issue 3, July 2026.
wiley   +1 more source

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease

, 2007
Background: Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution.
Jardim, LB, Coutinho, Paula, Gaspar, C., Calafell, Francesc, Tranebjaerg, Lisbeth, Loureiro, L, Tranebjærg, Lisbeth, Stevanin, Giovanni, Watanabe, M., Brunt, Ewout R., Jardim, L.B., Soong, Bing-Wen, Amorim, A., Amorim, Antonio, Martins, S, Wong, VCN, Watanabe, Mitsunori, Soong, BW, Brice, A, Tsuji, S, Tsuji, S., Giunti, P., Calafell, F, Riess, O, Duerr, Alexandra, Sequeiros, J., Riess, O., Watanabe, M, Coutinho, P., Silveira, I, Jardim, Laura B., Giunti, Paola, Soong, B.W., Loureiro, Leal, Nicholson, G.A., Hsieh, M., Rouleau, GA, Amorim, A, Nicholson, Garth A., Martins, S., Silveira, Isabel, Ranum, Laura P. W., Hsieh, M, Riess, Olaf, Nicholson, GA, Sequeiros, J, Brunt, E.R., Loureiro, L., Wong, Virginia C. N., Duerr, A., Giunti, P, Ranum, L.P.W., Rouleau, Guy A., Martins, Sandra, Calafell, F., Brunt, ER, Gaspar, C, Tsuji, Shoji, Brice, Alexis, Silveira, I., Rouleau, G.A., Wong, V.C.N., Stevanin, G, Brice, A., Hsieh, Mingli, Dürr, A, Ranum P, LPW, Stevanin, G., Coutinho, P, Gaspar, Claudia, Tranebjaerg, L, Sequeiros, Jorge   +71 more
core   +1 more source

Mitochondrial Dysfunction and Decreased Cytochrome c in Cell and Animal Models of Machado-Joseph Disease. [PDF]

Cells, 2023
Almeida F, Ferreira IL, Ferreira IL, Naia L, Marinho D, Vilaça-Ferreira AC, Costa MD, Duarte-Silva S, Maciel P, Rego AC.   +9 more
europepmc   +1 more source