S. Scholz

发表

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

Sonja W. Scholz, D. Hernandez, A. Singleton, 2006, The Lancet Neurology.

Predicting onset, progression, and clinical subtypes of Parkinson disease using machine learning

Sayed Hadi Hashemi, Sonja W. Scholz, M. Nalls, 2018, bioRxiv.

Genome-Wide Association Study reveals genetic risk underlying Parkinson’s disease

Sonja W. Scholz, D. Hernandez, M. Nalls, 2009, Nature Genetics.

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

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, Movement disorders : official journal of the Movement Disorder Society.

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, bioRxiv.

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

Zachary A. Szpiech, Sonja W. Scholz, D. Hernandez, 2008, Nature.

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

Sonja W. Scholz, S. Bandinelli, D. Hernandez, 2009, Human molecular genetics.

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

David Heckerman, Lorne Zinman, Joanne Wuu, 2011, Neuron.

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

Sonja W. Scholz, Adriano Chiò, Gabriele Mora, 2007, The Lancet Neurology.

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

Sonja W. Scholz, John Hardy, Mar Matarin, 2007, Human molecular genetics.

Predicting Alzheimer’s disease progression trajectory and clinical subtypes using machine learning

Sonja W. Scholz, M. Nalls, A. Singleton, 2019, bioRxiv.

Progressive Supranuclear Palsy and Corticobasal Degeneration

Sonja W. Scholz, S. Scholz, G. Wenning, 2007 .

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Sonja W. Scholz, Demis A. Kia, Miguel Ángel Martínez, 2020, Nature Communications.

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

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

A genome-wide genetic pleiotropy approach identified shared loci between multiple system atrophy and inflammatory bowel disease

Sonja W. Scholz, A. Singleton, C. Gieger, 2019, bioRxiv.

Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms

Sonja W. Scholz, D. Hernandez, M. Nalls, 2018, bioRxiv.

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

Sonja W. Scholz, Scott Silliman, Carl D Langefeld, 2007, The Lancet Neurology.

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

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, bioRxiv.

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

Sonja W. Scholz, Lilah M. Besser, Alan J. Thomas, 2020, bioRxiv.

Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease

Sonja W. Scholz, D. Hernandez, M. Nalls, 2020, Acta Neuropathologica.

Genomics and Bioinformatics of Parkinson's Disease Disease Motor Control Abnormalities in Parkinson's the Role of Autophagy in Parkinson's Disease Functional Neuroimaging in Parkinson's Disease Eidelberg Disruption of Protein Quality Control in Leucine-rich Repeat Kinase 2 for Beginners: Six Modelin

Sonja W. Scholz, Qin Li, E. Bézard, 2022 .

A critique of the second consensus criteria for multiple system atrophy

Sonja W. Scholz, M. T. Pellecchia, E. Tolosa, 2019, Movement disorders : official journal of the Movement Disorder Society.

α‐Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease

Sonja W. Scholz, C. Blauwendraat, D. Goldstein, 2021, Movement disorders : official journal of the Movement Disorder Society.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

Sonja W. Scholz, Demis A. Kia, D. Hernandez, 2018, JAMA neurology.

Accelerating Medicines Partnership: Parkinson's Disease. Genetic Resource

Sonja W. Scholz, D. Hernandez, M. Nalls, 2020, medRxiv.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Sonja W. Scholz, Hannah A. Pliner, D. Hernandez, 2019, Annals of neurology.

GRN Mutations Are Associated with Lewy Body Dementia

Sonja W. Scholz, Zalak V. Shah, B. Boeve, 2022, Movement disorders : official journal of the Movement Disorder Society.

A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson’s disease with dementia

Sonja W. Scholz, W. V. van IJcken, J. Volkmann, 2022, Brain communications.

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

Sonja W. Scholz, Nikolaus R. McFarland, A. Singleton, 2013, The International journal of neuroscience.

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

Sonja W. Scholz, Eveline Donnemiller, Werner Poewe, 2005, NeuroImage.

ARSA variants in α-synucleinopathies.

Sonja W. Scholz, Mary B Makarious, C. Blauwendraat, 2019, Brain : a journal of neurology.

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

Sonja W. Scholz, A. Singleton, S. Scholz, 2006, Neuroscience Letters.

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

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Movement disorders : official journal of the Movement Disorder Society.

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups.

Sonja W. Scholz, Zalak V. Shah, S. Scholz, 2021, Brain : a journal of neurology.

Highlighting the clinical potential of HTT repeat expansions in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Sonja W. Scholz, A. Chiò, B. Traynor, 2021, Neuron.

MAPT p.V363I mutation

Sonja W. Scholz, J. Troncoso, P. Pástor, 2019, Neurology: Genetics.

POLG1 polyglutamine tract variants associated with Parkinson's disease

Sonja W. Scholz, A. Singleton, T. Peuralinna, 2010, Neuroscience Letters.

LETTER TO THE EDITOR ARSA variants in a -synucleinopathies

Sonja W. Scholz, Mary B Makarious, C. Blauwendraat, 2019 .

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

Sayed Hadi Hashemi, Sonja W. Scholz, M. Nalls, 2022, bioRxiv.

GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY

Sonja W. Scholz, J. Hardy, A. Lees, 2009, Neurology.

Restless legs syndrome: is it all in the genes?

Sonja W. Scholz, S. Scholz, 2017, The Lancet Neurology.

Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing data

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2022, bioRxiv.

A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)

Mark I. McCarthy, Luigi Ferrucci, Kara Stevens, 2008, PLoS genetics.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2019, bioRxiv.

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

S. Scholz, H. Houlden, 2017, Neurology.

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

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.