Results 131 to 140 of about 5,061 (184)

A rare type 4 phenotype of Machado–Joseph disease with Parkinsonism

, 2020
Lakshmi Narasimha Gunturu
openalex   +1 more source

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. [PDF]

Aging (Albany NY), 2020
Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Dion PA, Rouleau GA.   +16 more
europepmc   +1 more source

Beneficial effects of tandospirone on ataxia of a patient with Machado‐Joseph disease [PDF]

, 2002
Asako Takei, Sanae Honma, Atushi Kawashima, Ichiro Yabe, Toshiyuki Fukazawa, Keiko Hamada, Takeshi Hamada, Kunio Tashiro   +7 more
openalex   +1 more source

Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease. [PDF]

Hum Mol Genet, 2020
Weber JJ, Haas E, Maringer Y, Hauser S, Casadei NLP, Chishti AH, Riess O, Hübener-Schmid J.   +7 more
europepmc   +1 more source

Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature [PDF]

, 2014
Shamsideen Abayomi Ogun, Sandra Martins, Philip Adebayo, Clara O Dawodu, Jorge Sequeiros, Michael F. Finkel   +5 more
openalex   +1 more source

Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal

, 2022
Couto D, Sousa L, Sequeiros J, Lima M, Mendes Á.   +4 more
europepmc   +1 more source

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

, 2012
Marcondes C. França, Vanessa E Emmel, Anelyssa D’Abreu, Cláudia Vianna Maurer‐Morelli, Rodrigo Secolin, Luciana Cardoso Bonadia, Marilza Santos da Silva, Anamarli Nucci, Laura Bannach Jardim, Maria Luiza Saraiva Pereira, Wilson Marques, Henry L. Paulson, Íscia Lopes‐Cendes   +12 more
openalex   +1 more source

Machado-Joseph disease type 2 [PDF]

, 2020
openaire   +1 more source

Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study

, 2014
Yanmin Song, Yun-Hai Liu, Ning Zhang, Lili Long   +3 more
openalex   +2 more sources

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract [PDF]

, 1999
Patrı́cia Maciel, Cláudia Gaspar, Laura Guimarães, Jun Goto, Íscia Lopes‐Cendes, Sean M. Hayes, Karin Arvidsson, Manuel Aureliano, Jorge Sequeiros, Alda Sousa, Guy A. Rouleau   +10 more
openalex   +1 more source