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. 2020 Jul 19;7(6):735-736.
doi: 10.1002/mdc3.12993. eCollection 2020 Aug.

Reply to STUB1-Related Ataxias: A Challenging Diagnosis

Diana A Olszewska  1   2 , Justin A Kinsella  2
Affiliations

Reply to STUB1-Related Ataxias: A Challenging Diagnosis

Diana A Olszewska et al. Mov Disord Clin Pract. .
No abstract available

Keywords: SCA48; SCAR16; STUB1.

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References

    1. Cocozza S, Santorelli FM, De Michele G. STUB1‐Related Ataxias: A Challenging Diagnosis. Mov Dis Clin Pract. 2020; In press; 10.1002/mdc3.12992 - DOI - PMC - PubMed
    1. Olszewska DA, Kinsella JA. Extending the phenotypic spectrum associated with STUB1 mutations: a case of dystonia. Mov Disord Clin Pract 2020;7:318–324. - PMC - PubMed
    1. De Michele G, Galatolo D, Barghigiani M, et al. Spinocerebellar ataxia type 48: last but not least [published online ahead of print 2020]. Neurol Sci. 10.1007/s10072-020-04408-3 - DOI - PubMed
    1. Cocozza S, Pontillo G, De Michele G, et al. The “crab sign”: an imaging feature of spinocerebellar ataxia type 48 [published online ahead of print 2020]. Neuroradiology. 10.1007/s00234-020- 02427‐7 - DOI - PubMed
    1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–424. - PMC - PubMed

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