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List of works by Sonja W. Scholz

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A critique of the second consensus criteria for multiple system atrophy

scientific article published on 29 April 2019

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

scientific article

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

A genome-wide association study of myasthenia gravis

scientific article published on April 2015

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

scientific article

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies

scientific article published on 17 December 2016

ARSA variants in α-synucleinopathies

scientific article published on 01 December 2019

Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource

scientific article published on 07 May 2021

Assessment of APOE in atypical parkinsonism syndromes

scientific article published on 21 February 2019

Association of cardiovascular disease management drugs with Lewy body dementia: a case–control study

scientific article published on 18 December 2023

Author response: A genome-wide association study in multiple system atrophy

scientific article published on 01 March 2017

Brachial plexitis preceding encephalomyelitis in a patient with West Nile virus infection

scientific article published on 05 December 2013

C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies

scientific article published on 31 May 2016

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

scientific article

Classification of GBA Variants and Their Effects in Synucleinopathies

scientific article published on 01 October 2019

Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease

scientific article published on June 2006

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

scientific article published on 18 January 2020

DNA typos spell trouble: Somatic mutations as a cause of idiopathic neurodegenerative diseases?

scientific article published on 24 January 2019

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

scientific article

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

scientific article published in June 2007

Evaluation of [123I]IBZM pinhole SPECT for the detection of striatal dopamine D2 receptor availability in rats.

scientific article published on 24 November 2004

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

scientific article

Exome sequencing reveals VCP mutations as a cause of familial ALS

scientific article

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

scientific article published on 01 November 2018

GBA mutations and Parkinson disease: When genotype meets phenotype

scientific article published on 04 February 2015

Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci

scientific article published on 20 February 2024

Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

scientific article published on 01 January 2020

Genetic players in multiple system atrophy: unfolding the nature of the beast

scientific article

Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders

scientific article

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

scientific article published on 15 February 2021

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

scientific article published on 20 November 2006

Genome-wide association study reveals genetic risk underlying Parkinson's disease

scientific article

Genome-wide estimate of the heritability of Multiple System Atrophy

scientific article

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Genomewide SNP assay reveals mutations underlying Parkinson disease

scientific article published on 01 February 2008

Genomics and Bioinformatics of Parkinson's Disease ⬇️

scientific article (publication date: July 2012)

Genotype, haplotype and copy-number variation in worldwide human populations

scientific article (publication date: 21 February 2008)

Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism

scientific article published on 15 June 2006

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

scientific article

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

Hot Topic: Epigenetics in Parkinson's Disease: A New Frontier for Disease-Modifying Therapies

scientific article published on 27 November 2020

Human Herpesvirus 6 Detection in Alzheimer's Disease Cases and Controls across Multiple Cohorts

scientific article published on 23 January 2020

Identification and prediction of Parkinson’s disease subtypes and progression using machine learning in two cohorts

scientific article published in 2022

Identification of new α-synuclein regulator by nontraditional drug development pipeline

scientific article published on 11 January 2018

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

scientific article published on 20 December 2017

Investigation of the genetic aetiology of Lewy body diseases with and without dementia

scientific article published in 2024

LRRK2 mutations in a clinic-based cohort of Parkinson's disease

scientific article published on 01 December 2006

MAPT p.V363I mutation: A rare cause of corticobasal degeneration

scientific article published on 25 June 2019

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

scientific article

Multiple system atrophy as emerging template for accelerated drug discovery in α-synucleinopathies

scientific article

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions

scientific article

Mutational analysis of known ALS genes in an Italian population-based cohort

scientific article published on 18 November 2020

Mutational analysis of parkin and PINK1 in multiple system atrophy

scientific article published on 19 January 2010

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

scientific article published on 13 June 2016

PINK1 mutations: does the dosage make the poison?

scientific article

POLG1 polyglutamine tract variants associated with Parkinson's disease

scientific article

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

scientific article published on 6 April 2009

Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms

scientific article published on 07 April 2019

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 26 November 2020

Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

scientific article published on 20 January 2020

Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies

scientific article published on 20 December 2022

Prion genotypes in Central America suggest selection for the V129 allele

scientific article

Restless legs syndrome: is it all in the genes?

scientific article published in November 2017

SNCA variants are associated with increased risk for multiple system atrophy

scientific article

Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease

scientific article published on 27 October 2020

Structural genomic variation in ischemic stroke

scientific article

Susceptibility genes in movement disorders

scientific article published on May 2008

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

scientific article published on May 2017

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

scientific article published on 29 October 2019

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

scientific article

Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease

scientific article published on 09 July 2013

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