Results 211 to 220 of about 6,741 (226)

[Diffusion weighted imaging of SCA3/MJD and SPG4].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2015
To determine the value of diffusion weighted imaging (DWI) in the diagnosis of hereditary spinocerebellar ataxia 3 and the Machado Joseph disease (SCA3/MJD) and hereditary spastic paraplegia 4 (SPG4).We scanned 13 patients with SPG4, 30 patients with SCA3/MJD (21 onset patients and 9 with only genetic abnormalities), and 27 healthy volunteers with DWI.
Wu, Xing, Xiaoyi, Wang, Xinxin, Liao, Lu, Shen, Weihua, Liao   +4 more
openaire   +1 more source

Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family

Journal of the Neurological Sciences, 1998
We studied the relationship between the number of CAG repeat units in the MJD1 gene and clinical features of Machado-Joseph disease (MJD) in eight patients from two generations of a Japanese MJD family. Because of lack of characteristic clinical signs of MJD such as dystonia, bulging eyes or facial myokymia, clinical diagnosis of MJD in this family was
Y, Takiyama, H, Shimazaki, M, Morita, M, Soutome, K, Sakoe, E, Esumi, S, Muramatsu, M, Yoshida, S, Igarashi, H, Tanaka, S, Tsuji, H, Sasaki, A, Wakisaka, I, Nakano, M, Nishizawa   +14 more
openaire   +2 more sources

Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

Journal of the Neurological Sciences, 2009
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia associated with varying phenotypic variability. It was reported that a few of SCA3/MJD patients showed marked spastic paraplegia with or without cerebellar ataxia, which was partially first diagnosed as ...
Yin-guang, Wang, Juan, Du, Jun-ling, Wang, Juan, Chen, Chong, Chen, Ying-ying, Luo, Zhi-quan, Xiao, Hong, Jiang, Xin-xiang, Yan, Kun, Xia, Qian, Pan, Bei-sha, Tang, Lu, Shen   +12 more
openaire   +2 more sources

Immunotolerance strategies to improve cell-bases therapy outcomes in MJD

2023
Outro - This work was funded by the European Regional Development Fund (ERDF) through the Centro 2020 Regional Operational Programme under BrainHealth2020 projects (CENTRO-01-0145-FEDER-000008), through the COMPETE 2020 - Operational Programme for Competitiveness and Internationalization and Portuguese national funds via FCT – Fundação para a Ciência e
openaire   +1 more source

[Value of 1H-MRS on SCA3/MJD diagnosis and clinical course].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2018
To investigate the value of proton magnetic resonance spectroscopy (1H-MRS) on the diagnosis of SCA3/MJD, and to calculate the correlation between 1H-MRS ratio and the clinical score.
 Methods: Sixteen patients with SCA3/MJD and 19 healthy volunteers were scanned with 1H-MRS.
Wu, Xing, Xinxin, Liao, Tingting, Guan, Fangfang, Xie, Lu, Shen, Weihua, Liao, Xiaoyi, Wang   +6 more
openaire   +1 more source

[Screening for proteins interacting with ataxin-3, the gene product of SCA3/MJD].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2006
To screen for proteins interacting with ataxin-3 by yeast two-hybrid system 3, and to discuss the function of ataxin-3 and pathogenesis of spinocerebellar ataxia type 3 and Machado-Joseph disease (SCA3/MJD).First we sub-cloned the full reading frame of both wild-type and mutant ataxin-3 into carrier pGBKT7 (ataxin-3-bait), and then screened human brain
Lu, Shen, Bei-sha, Tang, Jian-guang, Tang, Hong, Jiang, Cheng, Wang, Hai-yan, Fang   +5 more
openaire   +1 more source

De uitkomsten van de hulpverlening van MJD Groningen

2002
-
Flikweert, M., Mak, J., Kromontono, E., Melief, W., van der Laan, G.   +4 more
openaire   +1 more source

Brain structural abnormalities in the preclinical stage of Machado–Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3): evaluation by MRI morphometry, diffusion tensor imaging and neurite orientation dispersion and density imaging

Journal of Neurology, 2021
Mengcheng Li, Ziqiang Huang, Shi-Rui Gan   +2 more
exaly  

3.061 ANALYSIS OF SERUM MICRORNAS IN SCA3/MJD PATIENTS

Parkinsonism & Related Disorders, 2012
Y.T. Shi, B. Tang, H. Jiang
openaire   +1 more source

Phenotype-genotype correlations in SCA1, SCA2, SCA3/MJD and SCA6

Neuromuscular Disorders, 1997
Alexandra Durr, Giovanni Stevanin, Geraldine Cancel, Olivier Didierjean, Alexis Brice   +4 more
openaire   +1 more source