Results 111 to 120 of about 5,948 (206)

A comprehensive characterization of cerebellar pathology in an animal model of sca3 [PDF]

, 2022
Dissertação de mestrado em Ciências da SaúdeO cerebelo é uma estrutura cerebral crucial com um papel definido no funcionamento motor, sendo responsável pela coordenação motora, postura e manutenção do equilíbrio.
Ferreira, Ana Catarina Coutinho Vilaça
core  

Choroid plexus enlargement correlated with motor dysfunction in spinocerebellar ataxia type 3

Neurobiology of Disease
Objective: To investigate Choroid plexus (CP) structural changes using multimodal MRI, and assess the correlation between CP damage and motor dysfunction in SCA3 patients.
Zhiming Zhen, Peiling Ou, Yonghua Huang, Lihua Deng, Yue Chen, He Liu, Yanqiu Hua, Wei Chen, Huafu Chen, Peiyu Huang, Zhentao Zuo, Chen Liu   +11 more
doaj   +1 more source

Distribution of the GGGGCC repeats size in SCA3/MJD patients and controls.

, 2015
There was no significant difference in the distribution of the GGGGCC repeats length between SCA3/MJD patients and controls.
Zhao Chen (92571), Kun Xia (9853), Beisha Tang (77106), Tetsuo Ashizawa (247621), Yaqin Wang (188672), Fang Yang (123514), Huirong Peng (692987), Fengzhen Huang (692986), Hong Jiang (79543), Chunrong Wang (692985), Bin Jiao (756092), Junling Wang (252266), Yuting Shi (491528), Lu Shen (161789)   +13 more
core   +1 more source

Oral Presentation

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

, 2018
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A ...
Yvonne Schelling, Ludger Schöls, Stefanie Nicole Hayer, Jonasz Jeremiasz Weber, Jeannette Huebener-Schmid, Stefan Hauser   +5 more
core   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus

, 2005
We report a three generation Indian pedigree with the proband having 45 repeats at the Machado Joseph Disease (MJD)/spinocerebellar ataxia 3 (SCA3) disease locus. The proband exhibited clinical features of SCA and showed signs of cerebellar and brainstem
Srivastava, Achal Kumar, Padiath, Quasar Saleem, Jain, Satish, Brahmachari, Samir Kumar, Roy, Sanghmitra   +4 more
core   +1 more source

Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China.

, 2015
Neurodegenerative disorders are a heterogeneous group of chronic progressive diseases and have pathological mechanisms in common. A certain causative gene identified for a particular disease may be found to play roles in more than one neurodegenerative ...
Zhao Chen, Zhao Chen (92571), Beisha Tang, Beisha Tang (77106), Fang Yang, Fang Yang (123514), Huirong Peng, Kun Xia, Hong Jiang, Junling Wang, Tetsuo Ashizawa, Fengzhen Huang, Chunrong Wang (692985), Junling Wang (252266), Lu Shen, Kun Xia (9853), Yuting Shi, Tetsuo Ashizawa (247621), Yaqin Wang (188672), Huirong Peng (692987), Chunrong Wang, Bin Jiao, Fengzhen Huang (692986), Hong Jiang (79543), Bin Jiao (756092), Yuting Shi (491528), Lu Shen (161789), Yaqin Wang   +27 more
core   +1 more source

Significant differences of 3D-FD values between SCA3 patients and normal subjects at early stage and late stage of disease.

, 2015
(a) The cerebral cortex. (b) The cerebellar cortex. SCA3 shows significant decreased 3D-FD values at both the early and late stage of disease. Comparing the mean values of 3D-FD values at early stage of disease with that at late stage, the cortical ...
Tzu-Yun Wang (427574), Kuo-Kai Shyu (727797), Po-Shan Wang (300943), Yu-Te Wu (303371), Chii-Wen Jao (727796), Hsiu-Mei Wu (300948), Bing-Wen Soong (146155)   +6 more
core   +1 more source