Literature DB >> 22805644

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

M Masciullo, A Modoni, A Tessa, F M Santorelli, V Rizzo, G D'Amico, F Laschena, T Tartaglione, G Silvestri.   

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Year:  2012        PMID： 22805644     DOI： 10.1111/j.1468-1331.2012.03752.x

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  2 in total

1.  Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Authors:  Fabiana Longo; Daniele De Ritis; Annarita Miluzio; Davide Fraticelli; Jonathan Baets; Marina Scarlato; Filippo M Santorelli; Stefano Biffo; Francesca Maltecca
Journal:  Neurology       Date:  2021-10-14       Impact factor: 9.910

Review 2.  Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Authors:  Marjolaine Tremblay; Laura Girard-Côté; Bernard Brais; Cynthia Gagnon
Journal:  Orphanet J Rare Dis       Date:  2022-10-01       Impact factor: 4.303
  2 in total

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