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

V. Riso; S. Rossi; A. Perna; T. 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

V. Riso^*
, S. Rossi
, A. Perna
, T. Nicoletti
, L. Bosco
, G. Zanni
, Gabriella Silvestri

^*Corresponding author

IRCCS Ospedale pediatrico Bambino Gesù - Roma

Research output: Contribution to journal › Article

1 Citation (Scopus)

Abstract

.

Original language	English
Pages (from-to)	2989-2991
Number of pages	3
Journal	Neurological Sciences
Volume	41
Issue number	10
DOIs	https://doi.org/10.1007/s10072-020-04443-0
Publication status	Published - 2020

All Science Journal Classification (ASJC) codes

Dermatology
Clinical Neurology
Psychiatry and Mental health

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 = "V. Riso and S. Rossi and A. Perna and T. Nicoletti and L. Bosco and G. Zanni and Gabriella Silvestri",

year = "2020",

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

language = "English",

volume = "41",

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AU - Riso, V.

AU - Rossi, S.

AU - Perna, A.

AU - Nicoletti, T.

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 - https://publicatt.unicatt.it/handle/10807/166568

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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

IS - 10

ER -

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

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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