J. Simón-Sánchez

发表

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

Mohamad Saad, Nicholas W Wood, Manu Sharma, 2011, The Lancet.

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

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

Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

G. Carvill, T. Südhof, Christian Rosenmund, 2020, bioRxiv.

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2019, The Lancet Neurology.

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

Paola Giunti, Sonja W. Scholz, Elsdon Storey, 2007, PLoS genetics.

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

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2020, Nature Communications.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2016, American journal of human genetics.

Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk

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

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

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

A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

Simon C. Potter, M. Pirinen, D. Hernandez, 2011, PLoS genetics.

Identification of sixteen novel candidate genes for late onset Parkinson’s disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Molecular Neurodegeneration.

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

D. Hernandez, M. Nalls, J. Hoenicka, 2019, npj Parkinson's Disease.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Y. Pijnenburg, L. H. van den Berg, P. Heutink, 2012, Brain : a journal of neurology.

The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report

Nick C Fox, C. Blauwendraat, S. Mead, 2016, Alzheimer's & dementia.

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

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

A multi-omics dataset for the analysis of frontotemporal dementia genetic subtypes

C. Blauwendraat, Margherita Francescatto, P. Heutink, 2020, bioRxiv.

Integrated multi-omics analysis reveals 1 common and distinct dysregulated 2 pathways for genetic subtypes of 3 Frontotemporal Dementia

Margherita Francescatto, B. Borroni, Tenzin Nyima, 2021 .

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

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

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

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

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe

D. Hernandez, A. Singleton, C. Blauwendraat, 2016, Genome Medicine.

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

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

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

P. Heutink, T. Gasser, J. Simón‐Sánchez, 2016, Tremor and other hyperkinetic movements.

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.

Mohamad Saad, Peter Holmans, Nicholas W Wood, 2013, Human molecular genetics.

Genome-wide association study confirms extant PD risk loci among the Dutch

D. Hernandez, A. Singleton, A. Hofman, 2011, European Journal of Human Genetics.

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.

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

Florian G. Metzger, Patrizia Rizzu, Walter Maetzler, 2016, Neurobiology of Aging.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Kevin F. Bieniek, B. Miller, C. Geula, 2019, Acta Neuropathologica.

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

D. Hernandez, M. Nalls, A. Singleton, 2013, Human molecular genetics.

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk.

Peter Holmans, Alexandra Durr, Manu Sharma, 2013, JAMA neurology.

Variation at GRN 3′-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population

P. Heutink, D. Deeg, J. V. van Swieten, 2009, PloS one.

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

M. Nalls, A. Singleton, S. Sawcer, 2016, The Lancet. Neurology.

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

Sonja W. Scholz, D. Hernandez, M. Nalls, 2017, Neurobiology of Aging.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Janel O. Johnson, D. Hernandez, G. Schellenberg, 2012, The Lancet Neurology.

Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics

Luigi Ferrucci, Sonja W. Scholz, Tamara B. Harris, 2009, PLoS genetics.

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

D. Hernandez, A. Singleton, R. Nussbaum, 2005, Neuroscience Letters.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Jean-François Dartigues, Günther Deuschl, Yoav Ben-Shlomo, 2017, Genome Biology.

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

M. Nalls, A. Singleton, S. Sawcer, 2016, The Lancet Neurology.

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Nature Communications.

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

Sonja W. Scholz, W. M. van der Flier, Till F. M. Andlauer, 2019, Acta Neuropathologica.

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

A. Singleton, J. Simón‐Sánchez, J. Simón-Sánchez, 2008, Human molecular genetics.

Lack of replication of association between GIGYF2 variants and Parkinson disease.

A. Singleton, J. Simón‐Sánchez, C. Januário, 2008, Human molecular genetics.

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease

M. Nalls, J. Hardy, R. Guerreiro, 2009, neurogenetics.

The chromosome 9 ALS and FTD locus is probably derived from a single founder

M. Nalls, T. Peuralinna, J. Hardy, 2012, Neurobiology of Aging.

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

A. Singleton, J. Simón‐Sánchez, A. López de Munain, 2006, 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, Movement disorders : official journal of the Movement Disorder Society.

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.

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

C. Blauwendraat, Margherita Francescatto, P. Heutink, 2016, Acta Neuropathologica Communications.

A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.

P. Heutink, T. Gasser, J. Simón‐Sánchez, 2016, Parkinsonism & related disorders.

Genomewide SNP assay reveals mutations underlying Parkinson disease

Sonja W. Scholz, D. Hernandez, A. Singleton, 2008, Human mutation.

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.

Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey.

T. Gasser, J. Simón‐Sánchez, H. Gurvit, 2017, Parkinsonism & related disorders.

Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2018, bioRxiv.

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

Sonja W. Scholz, D. Hernandez, A. Singleton, 2008, The Lancet Neurology.

Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease

M. Nalls, A. Singleton, P. Holmans, 2012, PloS one.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2019, npj Parkinson's Disease.

Structural genomic variation in ischemic stroke

Sonja W. Scholz, D. Hernandez, A. Singleton, 2008, Neurogenetics.

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.

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

C. Blauwendraat, I. Jansen, P. Heutink, 2017, Genetics in Medicine.

Genome-wide association studies in neurological disorders

A. Singleton, J. Simón‐Sánchez, Andrew Singleton, 2008, The Lancet Neurology.

Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, medRxiv.

HPCA confirmed as a genetic cause of DYT2‐like dystonia phenotype

P. Heutink, T. Gasser, J. Simón‐Sánchez, 2018, Movement disorders : official journal of the Movement Disorder Society.

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

Miguel Ángel Martínez, D. Hernandez, M. Nalls, 2011, The Lancet.

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts

P. Heutink, T. Gasser, J. Simón‐Sánchez, 2015, Neurobiology of Aging.

Parkinson disease GWAS

T. Gasser, J. Simón‐Sánchez, J. Simón-Sánchez, 2015, Neurology.

Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus

D. Hernandez, M. Nalls, A. Singleton, 2013, PloS one.

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

M. Nalls, A. Singleton, G. Deuschl, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Use of support vector machines for disease risk prediction in genome‐wide association studies: Concerns and opportunities

Andreas Zell, Andreas Jahn, Mohamad Saad, 2012, Human mutation.

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Brain : a journal of neurology.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Genome Biology.

SNCA variants are associated with increased risk for multiple system atrophy

Sonja W. Scholz, M. T. Pellecchia, A. Singleton, 2009, Annals of neurology.

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain

J. Simón‐Sánchez, V. Herranz-Pérez, J. Pérez-Tur, 2006, The European journal of neuroscience.

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.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

C. Geula, M. Mesulam, J. Grafman, 2019, Acta Neuropathologica.

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.

Janel O. Johnson, D. Hernandez, A. Singleton, 2012, Brain : a journal of neurology.

Cervical dystonia and genetic common variation in the dopamine pathway.

F. Baas, M. Aramideh, J. J. van Hilten, 2013, Parkinsonism & related disorders.