Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families

Lucia Ricciardi; Simona Petrucci; Arianna Guidubaldi; Tamara Ialongo; Laura Serra; Alessandro Ferraris; Barbara Spanò; Marco Bozzali; Enza Maria Valente; Anna Rita Bentivoglio

doi:10.1002/mds.25994

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families

Lucia Ricciardi
, Simona Petrucci
, Arianna Guidubaldi
, Tamara Ialongo
, Laura Serra
, Alessandro Ferraris
, Barbara Spanò
, Marco Bozzali
, Enza Maria Valente
, Anna Rita Bentivoglio

IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
IRCCS Fondazione Santa Lucia - Roma

Research output: Contribution to journal › Article

31 Citations (Scopus)

Abstract

Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.

Original language	English
Pages (from-to)	1561-1566
Number of pages	6
Journal	Movement Disorders
Volume	29
DOIs	https://doi.org/10.1002/mds.25994
Publication status	Published - 2014

Keywords

PINK1
Parkinson disease
autosomal recessive early-onset parkinsonism
heterozygotes
nonmotor signs

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10.1002/mds.25994

Cite this

@article{12578aa1f76748ed9d59b1a3c49c671b,

title = "Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families",

abstract = "Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.",

keywords = "PINK1, Parkinson disease, autosomal recessive early-onset parkinsonism, heterozygotes, nonmotor signs, PINK1, Parkinson disease, autosomal recessive early-onset parkinsonism, heterozygotes, nonmotor signs",

author = "Lucia Ricciardi and Simona Petrucci and Arianna Guidubaldi and Tamara Ialongo and Laura Serra and Alessandro Ferraris and Barbara Span{\`o} and Marco Bozzali and Valente, \{Enza Maria\} and Bentivoglio, \{Anna Rita\}",

year = "2014",

doi = "10.1002/mds.25994",

language = "English",

volume = "29",

pages = "1561--1566",

journal = "Movement Disorders",

issn = "1531-8257",

publisher = "John Wiley \& Sons Inc.",

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T1 - Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families

AU - Ricciardi, Lucia

AU - Petrucci, Simona

AU - Guidubaldi, Arianna

AU - Ialongo, Tamara

AU - Serra, Laura

AU - Ferraris, Alessandro

AU - Spanò, Barbara

AU - Bozzali, Marco

AU - Valente, Enza Maria

AU - Bentivoglio, Anna Rita

PY - 2014

Y1 - 2014

N2 - Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.

AB - Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.

KW - PINK1

KW - Parkinson disease

KW - autosomal recessive early-onset parkinsonism

KW - heterozygotes

KW - nonmotor signs

KW - PINK1

KW - Parkinson disease

KW - autosomal recessive early-onset parkinsonism

KW - heterozygotes

KW - nonmotor signs

UR - http://hdl.handle.net/10807/63956

U2 - 10.1002/mds.25994

DO - 10.1002/mds.25994

M3 - Article

SN - 1531-8257

VL - 29

SP - 1561

EP - 1566

JO - Movement Disorders

JF - Movement Disorders

ER -

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families

Abstract

Keywords

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