Results 111 to 120 of about 27,164 (223)

Altered Expression of Hspa5, Hspa8 and Park7 in Spinocerebellar Ataxia Type 17 Identified by 2-Dimensional Fluorescence Difference in Gel Electrophoresis

, 2010
Background: Expansion of the CAG repeat of the TATA-box binding protein ( TBP) gene has been identified as the causative mutations in spinocerebellar ataxia 17 (SCA17).
陳瓊美;林佩瑩;李桂楨;沈林琥;林榮耀, Lee, Li-Ching; Chen, Chiung-Mei; Chen, Fen-Lin; Lin, Pei-Ying; Hsiao, Ya-Chin; Wang, Pin-Rong; Su, Ming-Tsan; Hsieh-Li, Hsiu-Mei; Hwang, Ji-Chuu; Wu, Chung-Hsin; Lee, Guan-Chiun; Singh, Sher; Lin, Yenshou; Hsieh, Sen-Yung; Lee-Chen, Guey-Jen   +1 more
core   +1 more source

Retinal Manifestations in Spinocerebellar Ataxia Type 3

Journal of Neuro-Ophthalmology, 2022
Sarah Chorfi, Emily M. Place, Robert M. Mallery, Rachel M. Huckfeldt   +3 more
openaire   +2 more sources

Spinocerebellar ataxia type 3 (Machado–Joseph disease)

Polish Archives of Internal Medicine, 2022
Jarosław, Dulski, Rana H, Al-Shaikh, Anna, Sulek, Jakub, Kasprzak, Jarosław, Sławek, Zbigniew K, Wszolek   +5 more
openaire   +2 more sources

Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia

Arquivos de Neuro-Psiquiatria, 2021
Cristina Saade Jaques, José Luiz Pedroso, Antônio José da Rocha, Wladimir Bocca Vieira de Resende Pinto, Acary Souza Bulle Oliveira, Orlando G. P. Barsottini   +5 more
doaj   +1 more source

Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3

Brain
Abstract The READISCA study aims to prepare for clinical trials in spinocerebellar ataxia types 1 and 3 (SCA1 and SCA3). Hence, we searched for predictive variables of ataxia onset (phenoconversion) and progression. Individuals with SCA1 or SCA3 and controls were enrolled from 2018 to 2021 in the USA and Europe ...
Petit, Emilien, Coarelli, Giulia, Morgan, David, Cunha, Paulina, Hurmic, Hortense, Faber, Jennifer, Grobe-Einsler, Marcus, Rezende, Thiago, Kuo, Sheng-Han, Wilmot, George, Rosenthal, Liana, Schmahmann, Jeremy, Yacoubian, Talene, Perlman, Susan, Geschwind, Michael, Gomez, Christopher, Hawkins, Trevor, Subramony, S, Shakkottai, Vikram, Bushara, Khalaf, Zesiewicz, Theresa, Pulst, Stefan, Woo-Park, Young, Lenglet, Christophe, Klockgether, Thomas, Paulson, Henry, Durr, Alexandra, Öz, Gülin, Ashizawa, Tetsuo, Tezenas Du Montcel, Sophie   +29 more
openaire   +4 more sources

Spinocerebellar Ataxia Type 3 [PDF]

, 2020
openaire   +3 more sources

Supplementary Material for: Bidirectional Connections between Depression and Ataxia Severity in Spinocerebellar Ataxia Type 3 Patients

, 2018
Background: Spinocerebellar ataxia type 3 (SCA3), which is the most common subtype of SCA worldwide, exhibits common neuropsychological symptoms such as depression.
Qian M.-Z. (5218322), Chen X.-P. (5218337), Gan S.-R. (5218334), Chen Y.-C. (2854820), Chen W.-J. (5218340), Chen P.-P. (5218346), Yang J.-S. (5218328), Lin H.-X. (5218343), Wang D.-N. (5218319), Shang X.-J. (5218325), Wang N. (3112722), Jiang B. (4070638), Lin M.-T. (5218331), Chen Y.-J. (4155763)   +13 more
core   +1 more source

Research progress of miRNA and siRNA in spinocerebellar ataxia type 3

Chinese Journal of Contemporary Neurology and Neurosurgery, 2013
Spinocerebellar ataxia type 3 (SCA3) is a type of polyglutamine (polyQ) disease with expansion mutant ATXN3 gene as its causative gene which contains cytosine-adenine-guanine (CAG) repeat sequence at the coding region of 3-terminal.
Feng-zhen HUANG, Xuan HOU, Bei-sha TANG, Hong JIANG   +3 more
doaj  

Investigation of RNA-mediated pathogenic pathways in a Drosophila model of expanded repeat disease.

, 2010
Expansion of a repeat sequence beyond a pathogenic range has been identified as the cause of a group of neurodegenerative diseases known as the expanded repeat diseases.
van Eyk, Clare Louise
core  

Infantile onset Spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases

, 2014
Autosomal dominant cerebellar ataxia type I is a heterogenous group of spinocerebellar ataxias with variable neurologic presentations, with age of onset varying from infancy to adulthood.
Singh, Ankur, Kapoor, Seema, Faruq, Mohammed, Dwivedi, Manish Kumar, Pruthi, Sumit, Mukerji, Mitali   +5 more
core   +1 more source