Atassia spinocerebellare tipo 28 (SCA28): modelli cellulari e animali per identificare i meccanismi patogenetici ed i potenziali bersagli terapeutici

Pubblicazioni Scientifiche

• 2015-03-19 BMC MEDICAL GENETICS

  An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

• 2013-06-18 BMC MEDICAL GENOMICS

  Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

• 2016-04-01 CEREBELLUM

  Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

• 2018-10-01 EUROPEAN JOURNAL OF HUMAN GENETICS

  Phenotype characterization of the SCA28 knockin mouse model and derived embryonic fibroblasts

• 2019-01-01 EUROPEAN JOURNAL OF NEUROLOGY

  Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

• 2019-04-01 NEUROBIOLOGY OF DISEASE

  Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity