Genetic Paradoxes in an Italian Family with PARK2 Multiexon Duplication-Reference-Cited by-同舟云学术

Genetic Paradoxes in an Italian Family with PARK2 Multiexon Duplication

Published:2017-09-08 Issue:6 Volume:4 Page:889-892
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Petrucci Simona¹²,Ferrazzano Gina³,Ginevrino Monia¹⁴,Tolve Manuela⁵,Berardelli Isabella²,Berardelli Alfredo²³,Fabbrini Giovanni²³,Valente Enza Maria¹⁴

Affiliation:

1. Neurogenetics Unit; Istituto di Ricovero e Cura a Carattere Scientifico; Santa Lucia Foundation; Rome Italy

2. Department of Neurology and Psychiatry; “Sapienza” University of Rome; Rome Italy

3. Neuromed Institute; Istituto di Ricovero e Cura a Carattere Scientifico; Pozzilli Italy

4. Department of Molecular Medicine; University of Pavia; Pavia Italy

5. Department of Experimental Medicine; “Sapienza” University of Rome; Rome Italy

Funder

Telethon Foundation Italy

Italian Ministry of Health

European Research Council

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mdc3.12531/fullpdf

Reference10 articles.

1. Parkinson disease genetics: a “continuum” from Mendelian to multifactorial inheritance;Petrucci;Curr Mol Med,2014

2. Next-generation phenotyping using the parkin example: time to catch up with genetics;Grunewald;JAMA Neurol,2013

3. Parkin mutations are frequent in patients with isolated early-onset parkinsonism;Periquet;Brain,2003

4. Analysis of exons dosage using MLPA in South African Parkinson's disease patients;Keyser;Neurogenetics,2010

5. Relative contribution of simple mutations vs copy number variations in five Parkinson disease genes in the Belgian population;Nuytemans;Hum Mutat,2009

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1. Generation of induced pluripotent stem cell line RCPCMi004-A derived from patient with Parkinson's disease with deletion of the exon 2 in PARK2 gene;Stem Cell Research;2020-04