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Neurogenetics|December 7, 2017
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysisDaniele Galatolo, Alessandra Tessa, Alessandro Filla, et al.
Cerebellum (London, England)|January 24, 2025
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACSGiulia De Riso, Valentina Naef, Devid Damiani, et al.
Cerebellum (London, England)|May 27, 2023
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on BiomarkersFilippo M Santorelli, Hayley S McLoughlin, Justin M Wolter, et al.
Biomolecules|July 27, 2022
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell ModelFederica Morani, Stefano Doccini, Daniele Galatolo, et al.
Frontiers in Neuroscience|June 24, 2024
Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsinDaniele Galatolo, Silvia Rocchiccioli, Nicoletta Di Giorgi, et al.
Neurobiology of Disease|January 8, 2025
Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACSValentina Naef, Devid Damiani, Rosario Licitra, et al.
Frontiers in Neurology|February 15, 2021
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic TechnologyFederica Morani, Stefano Doccini, Giovanna Chiorino, et al.
Annals of Clinical and Translational Neurology|April 3, 2020
Expanding the clinical and genetic heterogeneity of SPAX5Claudia Dosi, Daniele Galatolo, Anna Rubegni, et al.
International Journal of Molecular Sciences|August 27, 2021
Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in ZebrafishValentina Naef, Maria Marchese, Asahi Ogi, et al.
Cerebellum (London, England)|March 30, 2023
Ataxia and Hypogonadism: a Review of the Associated Genes and SyndromesGiovanna De Michele, Luigi Maione, Sirio Cocozza, et al.
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