Literature DB >> 32367327

NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.

Vittorio Riso1, S Rossi2, A Perna2, T Nicoletti2, L Bosco3, G Zanni3, G Silvestri2.   

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Year:  2020        PMID： 32367327     DOI： 10.1007/s10072-020-04443-0

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  1 in total

1.  Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

Authors:  Giovanna De Michele; Daniele Galatolo; Serena Galosi; Andrea Mignarri; Gabriella Silvestri; Carlo Casali; Vincenzo Leuzzi; Ivana Ricca; Melissa Barghigiani; Alessandra Tessa; Ettore Cioffi; Caterina Caputi; Vittorio Riso; Maria Teresa Dotti; Francesco Saccà; Giuseppe De Michele; Sirio Cocozza; Alessandro Filla; Filippo M Santorelli
Journal:  J Neurol       Date:  2021-07-22       Impact factor: 4.849
  1 in total

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