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Journal of Medical Genetics
|
March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.
Archives of Neurology
|
August 18, 2004
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
Amalia C Bruni, Junko Takahashi-Fujigasaki, Francesca Maltecca, et al.
Human Molecular Genetics
|
May 24, 2017
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, et al.
BMC Medical Genomics
|
June 20, 2013
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways
Cecilia Mancini, Paola Roncaglia, Alessandro Brussino, et al.
Neurobiology of Disease
|
November 4, 2018
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, et al.
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of 3
Search research articles
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Showing results (21-30 of 25) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 25 results.
Journal of Medical Genetics
|
March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.
Archives of Neurology
|
August 18, 2004
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
Amalia C Bruni, Junko Takahashi-Fujigasaki, Francesca Maltecca, et al.
Human Molecular Genetics
|
May 24, 2017
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, et al.
BMC Medical Genomics
|
June 20, 2013
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways
Cecilia Mancini, Paola Roncaglia, Alessandro Brussino, et al.
Neurobiology of Disease
|
November 4, 2018
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, et al.
Page
of 3