SCA7 mouse cerebellar pathology reveals preferential downregulation of key Purkinje cell-identity genes and shared disease signature with SCA1 and SCA2
A Niewiadomska-Cimicka, F Doussau… - Journal of …, 2021 - Soc Neuroscience
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease mainly
characterized by motor incoordination because of progressive cerebellar degeneration …
characterized by motor incoordination because of progressive cerebellar degeneration …
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration
GA Garden, AR La Spada - The Cerebellum, 2008 - Springer
Abstract Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ)
repeat diseases due to dramatic intergenerational instability in repeat length and an …
repeat diseases due to dramatic intergenerational instability in repeat length and an …
[HTML][HTML] Molecular targets and therapeutic strategies in spinocerebellar ataxia type 7
A Niewiadomska-Cimicka, Y Trottier - Neurotherapeutics, 2019 - Elsevier
Abstract Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant
neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum …
neurodegenerative disorder characterized by progressive neuronal loss in the cerebellum …
A novel SCA3 knock-in mouse model mimics the human SCA3 disease phenotype including neuropathological, behavioral, and transcriptional abnormalities …
E Haas, RD Incebacak, T Hentrich, C Huridou… - Molecular …, 2022 - Springer
Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia
worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a …
worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a …
Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis
ABSTRACT Spinocerebellar ataxia 17 (SCA17) belongs to the family of 9 genetically
inherited, late-onset neurodegenerative diseases, which are caused by polyglutamine …
inherited, late-onset neurodegenerative diseases, which are caused by polyglutamine …
Rapid onset of motor deficits in a mouse model of spinocerebellar ataxia type 6 precedes late cerebellar degeneration
S Jayabal, L Ljungberg, T Erwes, A Cormier, S Quilez… - Eneuro, 2015 - eneuro.org
Abstract Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant cerebellar ataxia
that has been associated with loss of cerebellar Purkinje cells. Disease onset is typically at …
that has been associated with loss of cerebellar Purkinje cells. Disease onset is typically at …
Genetically modified rodent models of SCA17
Spinocerebellar ataxia type 17 (SCA17) is a type of autosomal dominant cerebellar ataxia
(ADCA) characterized by variable manifestations, including cerebellar ataxia, dementia, and …
(ADCA) characterized by variable manifestations, including cerebellar ataxia, dementia, and …
Identifying disease signatures in the spinocerebellar ataxia type 1 mouse cortex
The neurodegenerative disease spinocerebellar ataxia type 1 (SCA1) is known to lead to
the progressive degeneration of specific neuronal populations, including cerebellar Purkinje …
the progressive degeneration of specific neuronal populations, including cerebellar Purkinje …
Longitudinal MRI and 1H-MRS study of SCA7 mouse forebrain reveals progressive multiregional atrophy and early brain metabolite changes indicating early …
JB Pérot, A Niewiadomska-Cimicka, E Brouillet… - Plos one, 2024 - journals.plos.org
SpinoCerebellar Ataxia type 7 (SCA7) is an inherited disorder caused by CAG triplet repeats
encoding polyglutamine expansion in the ATXN7 protein, which is part of the transcriptional …
encoding polyglutamine expansion in the ATXN7 protein, which is part of the transcriptional …
Impaired oligodendrocyte maturation is an early feature in SCA3 disease pathogenesis
Spinocerebellar ataxia Type 3 (SCA3), the most common dominantly inherited ataxia, is a
polyglutamine neurodegenerative disease for which there is no disease-modifying therapy …
polyglutamine neurodegenerative disease for which there is no disease-modifying therapy …