Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation

2020 ◽  
Vol 131 (7) ◽  
pp. 1548-1555
Author(s):  
Elisa Visani ◽  
Caterina Mariotti ◽  
Lorenzo Nanetti ◽  
Alessia Mongelli ◽  
Anna Castaldo ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Cortical Network ◽  
Spinocerebellar Ataxia 1

scholarly journals Region‐specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1

2021 ◽  
Author(s):  
Joshua J. White ◽  
Laurens W. J. Bosman ◽  
Francois G. C. Blot ◽  
Catarina Osório ◽  
Bram W. Kuppens ◽  
...  
Keyword(s):  
Mouse Model ◽  
Purkinje Cell ◽  
Spinocerebellar Ataxia ◽  
Cell Morphology ◽  
Motor Behavior ◽  
Spinocerebellar Ataxia 1

Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?

2001 ◽  
Vol 11 (4) ◽  
pp. 201-205 ◽  
Author(s):  
Dušanka Savić ◽  
Ivan Topisirović ◽  
Milica Keckarević ◽  
Dušan Keckarević ◽  
Tamara Major ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Gene Locus ◽  
Cag Repeat ◽  
Repeat Allele ◽  
Trinucleotide Expansion ◽  
Spinocerebellar Ataxia 1

scholarly journals Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Dhanya Kumaran ◽  
Krishnan Balagopal ◽  
Reginald George Alex Tharmaraj ◽  
Sanjith Aaron ◽  
Kuryan George ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Genetic Characterization ◽  
South Indian ◽  
Spinocerebellar Ataxia 1

Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice

Neurology ◽  
1998 ◽  
Vol 50 (1) ◽  
pp. 106-113 ◽  
Author(s):  
P.J. S. Vig ◽  
S. H. Subramony ◽  
E. N. Burright ◽  
J. D. Fratkin ◽  
D. O. McDaniel ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Purkinje Cells ◽  
Spinocerebellar Ataxia ◽  
Calcium Binding ◽  
Binding Proteins ◽  
Calcium Binding Proteins ◽  
Spinocerebellar Ataxia 1

scholarly journals Dystonia and dysphagia in spinocerebellar ataxia 1 portends a severe phenotype

2020 ◽  
Vol 3 (3) ◽  
pp. 185
Author(s):  
Sahil Mehta ◽  
Sucharita Ray ◽  
Sarath Aleti ◽  
Vivek Lal
Keyword(s):  
Spinocerebellar Ataxia ◽  
Severe Phenotype ◽  
Spinocerebellar Ataxia 1

Spinocerebellar ataxia 1: case and cohort-based studies in India

2015 ◽  
Vol 109 (5) ◽  
pp. 889
Author(s):  
Dhanya Kumaran ◽  
Gaiti Hasan
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia 1

Spinocerebellar ataxia 1: case and cohort-based studies in India

2015 ◽  
Vol 109 (5) ◽  
pp. 889
Author(s):  
Dhanya Kumaran ◽  
Gaiti Hasan
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia 1
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