Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study-Reference-Cited by-同舟云学术

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Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study

Published:2019-09 Issue: Volume:66 Page:158-165
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Puschmann Andreas^ORCID,Jiménez-Ferrer Itzia,Lundblad-Andersson Elin,Mårtensson Emma,Hansson Oskar^ORCID,Odin Per,Widner Håkan,Brolin Kajsa,Mzezewa Ropafadzo,Kristensen Jonas,Soller Maria,Rödström Emil Ygland^ORCID,Ross Owen A.,Toft Mathias,Breedveld Guido J.,Bonifati Vincenzo,Brodin Lovisa,Zettergren Anna,Sydow Olof,Linder Jan,Wirdefeldt Karin,Svenningsson Per,Nissbrandt Hans,Belin Andrea Carmine^ORCID,Forsgren Lars,Swanberg Maria

Funder

Lund University

Parkinson Foundation

Parkinsonfonden

ALF

Swedish Research Council

International Parkinson and Movement Disorder Society

MDS

Roche

GE Healthcare

Biogen

Fujirebio

National Institutes of Health

Research Council of Norway

Eastern Health

Erasmus MC

Stichting ParkinsonFonds

ZonMw

JPND

Magnus Bergvall's Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference30 articles.

1. The genetic landscape of Parkinson's disease;Lunati;Rev. Neurol. (Paris),2018

2. Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review;Trinh;Mov. Disord.,2018

3. Genetic Epidemiology of Parkinson's Disease C. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study;Ross;Lancet Neurol.,2011

4. Fox LRRK2 Consortium. Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry;Lee;Mov. Disord.,2017

5. Fox Ashkenazi jewish LRRK2 consortium. Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi jewish LRRK2 consortium;Marder;Neurology,2015

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1. An Overview of the Worldwide Distribution of LRRK2 Mutations in Parkinson’s Disease;Neurodegenerative Disease Management;2023-12

2. Indication for molecular testing by multiplex ligation‐dependent probe amplification in parkinsonism;European Journal of Neurology;2023-03-29

3. Nigral Transcriptomic Profiles in Engrailed-1 Hemizygous Mouse Models of Parkinson’s Disease Reveal Upregulation of Oxidative Phosphorylation-Related Genes Associated with Resistance to Dopaminergic Neurodegeneration;2023-03-24

4. Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson’s disease;Frontiers in Neuroscience;2022-09-20

5. Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review;Parkinsonism & Related Disorders;2022-05

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