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

Vittorio Riso; S. Rossi; A. Perna; Tommaso Filippo Nicoletti; L. Bosco; G. Zanni; Gabriella Silvestri

doi:10.1007/s10072-020-04443-0

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

Vittorio Riso, S. Rossi, A. Perna, Tommaso Filippo Nicoletti, L. Bosco, G. Zanni, Gabriella Silvestri

IRCCS Ospedale pediatrico Bambino Gesù - Roma

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Abstract

.

Original language	English
Pages (from-to)	2989-2991
Number of pages	3
Journal	Neurological Sciences
Volume	41
DOIs	https://doi.org/10.1007/s10072-020-04443-0
Publication status	Published - 2020

Keywords

NGS
SCA14
dystonic tremor
movement disorders

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10.1007/s10072-020-04443-0

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

abstract = ".",

keywords = "NGS, SCA14, dystonic tremor, movement disorders, NGS, SCA14, dystonic tremor, movement disorders",

author = "Vittorio Riso and S. Rossi and A. Perna and Nicoletti, {Tommaso Filippo} and L. Bosco and G. Zanni and Gabriella Silvestri",

year = "2020",

doi = "10.1007/s10072-020-04443-0",

language = "English",

volume = "41",

pages = "2989--2991",

journal = "Neurological Sciences",

issn = "1590-1874",

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TY - JOUR

T1 - NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor

AU - Riso, Vittorio

AU - Rossi, S.

AU - Perna, A.

AU - Nicoletti, Tommaso Filippo

AU - Bosco, L.

AU - Zanni, G.

AU - Silvestri, Gabriella

PY - 2020

Y1 - 2020

N2 - .

AB - .

KW - NGS

KW - SCA14

KW - dystonic tremor

KW - movement disorders

KW - NGS

KW - SCA14

KW - dystonic tremor

KW - movement disorders

UR - http://hdl.handle.net/10807/166568

U2 - 10.1007/s10072-020-04443-0

DO - 10.1007/s10072-020-04443-0

M3 - Article

SN - 1590-1874

VL - 41

SP - 2989

EP - 2991

JO - Neurological Sciences

JF - Neurological Sciences

ER -

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

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Keywords

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