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SPINOCEREBELLAR ATAXIA 28

Known as: SCA28 
National Institutes of Health

Related topics

Related topics

7 relations

Broader (1)

Ataxia, Spinocerebellar
Autosomal dominant inheritanceCerebellar atrophyDysarthriaGait Ataxia

Papers overview

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2018
2018
A Rare Case Of Early Onset Hereditary spastic paraplegia caused by AFG3L2 and SPG7 mutations
A male child born out of non consanguinous marraige with normal birth and developemental history till one and half year of age… 
2015
2015
ROLE OF MITOCHONDRIA IN CORTICAL NEURONS FROM SPINOCEREBELLAR ATAXIA 28 (SCA28) MOUSE MODEL.
In this study we investigated the role of mitochondria in cortical neurons obtained from a mouse model of spinocerebellar ataxia… 
2011
2011
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients
2011
2011
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease
2009
2009
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia
2006
2006
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22- q11.2
We describe a four-generation Italian family with a novel form of juvenile-onset, slowly progressive, autosomal dominant…