Jinhui Ding

发表

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

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

Hexokinase activity is required for recruitment of parkin to depolarized mitochondria.

M. Cookson, I. Rudenko, A. Kaganovich, 2014, 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.

cDNA sequences reveal considerable gene prediction inaccuracy in the Plasmodium falciparum genome

Fangli Lu, X. Su, Jianbing Mu, 2007, BMC Genomics.

MicroRNA-205 regulates the expression of Parkinson's disease-related leucine-rich repeat kinase 2 protein.

Ping He, Veerle Baekelandt, Renée Vancraenenbroeck, 2013, Human molecular genetics.

A genome-wide association study of sporadic ALS in a homogenous Irish population.

Orla Hardiman, D. Hernandez, S. Cronin, 2007, Human molecular genetics.

Combined knockout of Lrrk2 and Rab29 does not result in behavioral abnormalities in vivo

M. Cookson, A. Beilina, Jinhui Ding, 2020, bioRxiv.

Genetic ablation of dynactin p150Glued in postnatal neurons causes preferential degeneration of spinal motor neurons in aged mice

H. Cai, Lixin Sun, Jia Yu, 2018, Molecular Neurodegeneration.

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease

Michelle K. Lupton, A. Singleton, J. Hardy, 2014, Neurobiology of Aging.

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Phillip A. Richmond, M. Eberle, H. Rehm, 2021, Genome Medicine.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

D. Hernandez, A. Singleton, A. Durr, 2017, Neurodegenerative Diseases.

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.

Longitudinal Metabolomics Profiling of Parkinson’s Disease-Related α-Synuclein A53T Transgenic Mice

X. Chen, H. Cai, Lixin Sun, 2015, PloS one.

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.

S-Nitrosylation Regulates Nuclear Translocation of Chloride Intracellular Channel Protein CLIC4*

P. Curmi, S. Yuspa, Kasey Jividen, 2010, The Journal of Biological Chemistry.

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

D. Hernandez, M. Nalls, A. Singleton, 2017, Neurobiology of Aging.

Combined Knockout of Lrrk2 and Rab29 Does Not Result in Behavioral Abnormalities in vivo.

M. Cookson, A. Beilina, Jinhui Ding, 2021, Journal of Parkinson's disease.

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

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

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

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

Distinct Connectivity and Functionality of Aldehyde Dehydrogenase 1a1-Positive Nigrostriatal Dopaminergic Neurons in Motor Learning.

H. Cai, Lixin Sun, Jia Yu, 2019, Cell reports.

Role of mitofusin 2 (Mfn2) in controlling cellular proliferation

D. Longo, Jinhui Ding, F. Indig, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

ARSA variants in α-synucleinopathies.

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

Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction

A. Singleton, Mary B Makarious, C. Blauwendraat, 2022, Nature Communications.

Parkinson’s disease-related Leucine-rich repeat kinase 2 modulates nuclear morphology and genomic stability in striatal projection neurons during aging

H. Cai, Lixin Sun, Shengdi Chen, 2020, Molecular Neurodegeneration.

Leucine-rich repeat kinase 2 controls protein kinase A activation state through phosphodiesterase 4

M. Cookson, G. Di Benedetto, L. Bubacco, 2018, Journal of Neuroinflammation.

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.

MAPT p.V363I mutation

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

LRRK2 modulates microglial activity through regulation of chemokine (C-X3-C) receptor 1 -mediated signalling pathways.

H. Cai, Lixin Sun, V. Koliatsos, 2016, Human molecular genetics.

Title : Leucine-rich Repeat Kinase 2 regulates Sec 16 A at ER exit sites to allow ER-Golgi export

H. Cai, Lixin Sun, Jia Yu, 2014 .

LETTER TO THE EDITOR ARSA variants in a -synucleinopathies

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

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.

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.

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.

Validation of a Migraine Interview for Children and Adolescents

K. Merikangas, Shoaib Ahmed, Jinhui Ding, 2013, Pediatrics.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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

THAP1 modulates oligodendrocyte maturation by regulating ECM degradation in lysosomes

M. Cookson, V. Shakkottai, W. Dauer, 2020, Proceedings of the National Academy of Sciences.

MAPT p.V363I mutation A rare cause of corticobasal degeneration

Sonja W. Scholz, C. Morris, J. Troncoso, 2022 .

Toll-Like Receptors Promote Mitochondrial Translocation of Nuclear Transcription Factor Nuclear Factor of Activated T-Cells in Prolonged Microglial Activation

H. Cai, Lixin Sun, Jia Yu, 2015, The Journal of Neuroscience.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Identification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred

M. Wilkerson, A. Chiò, B. Traynor, 2020, Neurology.

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

Sonja W. Scholz, Lilah M. Besser, Alan J. Thomas, 2021, Nature Genetics.

MIDN locus structural variants and Parkinson's Disease risk

D. Hernandez, C. Blauwendraat, J. R. Gibbs, 2020, Annals of clinical and translational neurology.

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

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

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.

SNCA variants are associated with increased risk for multiple system atrophy

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

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

Michelle K. Lupton, W. M. van der Flier, M. Nalls, 2016, Neurobiology of Aging.

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

Michelle K. Lupton, A. Singleton, J. Hardy, 2014, Neurobiology of Aging.

Leucine‐rich repeat kinase 2 regulates Sec16A at ER exit sites to allow ER–Golgi export

X. Chen, H. Cai, Lixin Sun, 2014, The EMBO journal.

Mutational Activation of ErbB2 Reveals a New Protein Kinase Autoinhibition Mechanism*

Lily Wong, N. A. Spiridonov, Jinhui Ding, 2008, Journal of Biological Chemistry.

Genome-Wide Compensatory Changes Accompany Drug- Selected Mutations in the Plasmodium falciparum crt Gene

X. Su, R. Stephens, M. Yi, 2008, PloS one.

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

Sonja W. Scholz, D. Hernandez, A. Singleton, 2016, Neurobiology of Disease.

Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease

Sonja W. Scholz, A. Singleton, C. Gieger, 2020, Movement disorders : official journal of the Movement Disorder Society.

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease

Michelle K. Lupton, M. Nalls, A. Singleton, 2016, PloS one.

Genome-wide Analyses Id entify KIF 5 A as a Novel ALS Gene Highlights

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2018 .

Leucine-Rich Repeat Kinase 2 Regulates the Progression of Neuropathology Induced by Parkinson's-Disease-Related Mutant α-synuclein

H. Cai, Lixin Sun, J. Troncoso, 2009, Neuron.

The Parkinson's Disease DNA Variant Browser

D. Hernandez, M. Nalls, A. Singleton, 2020, medRxiv.

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

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2012, Neurology.

Aldehyde Dehydrogenase 1 making molecular inroads into the differential vulnerability of nigrostriatal dopaminergic neuron subtypes in Parkinson’s disease

H. Cai, Lixin Sun, Jinhui Ding, 2014, Translational Neurodegeneration.

Aldehyde dehydrogenase 1 defines and protects a nigrostriatal dopaminergic neuron subpopulation.

H. Cai, Lixin Sun, Jia Yu, 2014, The Journal of clinical investigation.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Patrizia Sola, Joanne Wuu, Michael Benatar, 2011, Neuron.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

A. Singleton, M. Vidailhet, A. Durr, 2018, JAMA neurology.

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

Suneil K. Kalia, M. Nalls, M. Cookson, 2014, Proceedings of the National Academy of Sciences.

RNA binding activity of the recessive parkinsonism protein DJ-1 supports involvement in multiple cellular pathways

Ming Zhan, Nancy M Bonini, Myriam Gorospe, 2008, Proceedings of the National Academy of Sciences.

Function and Regulation of ALDH1A1-Positive Nigrostriatal Dopaminergic Neurons in Motor Control and Parkinson’s Disease

H. Cai, Lixin Sun, Zayd M. Khaliq, 2021, Frontiers in Neural Circuits.

The Parkinson Disease-associated Leucine-rich Repeat Kinase 2 (LRRK2) Is a Dimer That Undergoes Intramolecular Autophosphorylation*

M. Cookson, V. Baekelandt, S. Jain, 2008, Journal of Biological Chemistry.

Age-associated miRNA Alterations in Skeletal Muscle from Rhesus Monkeys reversed by caloric restriction

E. Mercken, R. de Cabo, M. Gorospe, 2013, Aging.

Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse

M. Cookson, J. Bonifacino, Chengyu Liu, 2019, bioRxiv.

Transcriptional signatures in iPSC-derived neurons are reproducible across labs when differentiation protocols are closely matched

M. Cookson, S. Finkbeiner, A. Kaganovich, 2021, Stem cell research.

Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1

M. P. van der Brug, A. Beilina, A. Kaganovich, 2007, Journal of neurochemistry.

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Sonja W. Scholz, C. Blauwendraat, M. Cookson, 2020, The Lancet Neurology.

Conditional Expression of Parkinson's Disease-Related Mutant α-Synuclein in the Midbrain Dopaminergic Neurons Causes Progressive Neurodegeneration and Degradation of Transcription Factor Nuclear Receptor Related 1

D. Lovinger, H. Cai, Jia Yu, 2012, The Journal of Neuroscience.

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.

Transcriptome analysis of LRRK2 knock-out microglia cells reveals alterations of inflammatory- and oxidative stress-related pathways upon treatment with α-synuclein fibrils

M. Cookson, L. Bubacco, A. Mamais, 2019, Neurobiology of Disease.

A calcineurin- and NFAT-dependent pathway is involved in α-synuclein-induced degeneration of midbrain dopaminergic neurons.

H. Cai, Lixin Sun, Jia Yu, 2014, Human molecular genetics.

Leucine-rich repeat kinase 2 controls protein kinase A activation state through phosphodiesterase 4

M. Cookson, G. Di Benedetto, L. Bubacco, 2018, Journal of Neuroinflammation.

Genetic analysis of neurodegenerative diseases in a pathology cohort

Sonja W. Scholz, M. Nalls, L. Ferrucci, 2019, Neurobiology of Aging.

Genetic ablation of dynactin p150Glued in postnatal neurons causes preferential degeneration of spinal motor neurons in aged mice

H. Cai, Lixin Sun, Jia Yu, 2018, Molecular Neurodegeneration.

ATXN2 intermediate expansions in amyotrophic lateral sclerosis.

J. Glass, J. Landers, B. Traynor, 2022, Brain : a journal of neurology.

A rare cause of corticobasal degeneration

Sonja W. Scholz, C. Morris, J. Troncoso, 2022 .

A simple and efficient algorithm for genome-wide homozygosity analysis in disease

A. Singleton, J. Hardy, Sue-Jane Wang, 2009, Molecular systems biology.

Mutational analysis of parkin and PINK1 in multiple system atrophy

Sonja W. Scholz, A. Singleton, A. Lees, 2011, Neurobiology of Aging.

Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019S missense mutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression.

D. Lovinger, H. Cai, Lixin Sun, 2015, Human molecular genetics.

ALDH1A1 regulates postsynaptic μ–opioid receptor expression in dorsal striatal projection neurons and mitigates dyskinesia through transsynaptic retinoic acid signaling

H. Cai, Lixin Sun, Jia Yu, 2019, Scientific Reports.

Unbalanced calcium channel activity underlies selective vulnerability of nigrostriatal dopaminergic terminals in Parkinsonian mice

D. Lovinger, H. Cai, Lixin Sun, 2019, Scientific Reports.

Alsin and the Molecular Pathways of Amyotrophic Lateral Sclerosis

H. Cai, Jinhui Ding, J. Chandran, 2007, Molecular Neurobiology.

Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy

Sonja W. Scholz, M. Cookson, J. Hardy, 2020, bioRxiv.

The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation.

M. Cookson, Ruth Chia, I. Rudenko, 2012, The Biochemical journal.

Correction to: Parkinson’s disease-related Leucine-rich repeat kinase 2 modulates nuclear morphology and genomic stability in striatal projection neurons during aging

H. Cai, Lixin Sun, Shengdi Chen, 2020, Molecular Neurodegeneration.

Inhibition of p38α MAPK restores neuronal p38γ MAPK and ameliorates synaptic degeneration in a mouse model of DLB/PD

R. Rissman, W. Wrasidlo, C. Overk, 2023, Science Translational Medicine.

Molecular changes in the absence of severe pathology in the pulvinar in dementia with Lewy bodies

I. McKeith, A. Khundakar, P. Hanson, 2018, Movement disorders : official journal of the Movement Disorder Society.

Genome‐Wide Analysis of Structural Variants in Parkinson Disease

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2023, Annals of neurology.

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Sonja W. Scholz, A. Chiò, B. Traynor, 2023, Brain : a journal of neurology.

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

Sonja W. Scholz, A. Chiò, B. Traynor, 2020, Neurology.

Large-scale Rare Variant Burden Testing in Parkinson's Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation

Sonja W. Scholz, Chelsea X. Alvarado, Toshiko Tanaka, 2022, medRxiv.

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Ryan L. Collins, Sonja W. Scholz, Toshiko Tanaka, 2023, Cell genomics.

Tau knockout exacerbates degeneration of parvalbumin‐positive neurons in substantia nigra pars reticulata in Parkinson's disease‐related α‐synuclein A53T mice

H. Cai, Z. Li, Jinhui Ding, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

T. Price, C. Blauwendraat, G. Logroscino, 2021, Scientific Reports.

Deficiency in endocannabinoid synthase DAGLB contributes to Parkinson’s disease and dopaminergic neuron dysfunction

D. Lovinger, H. Cai, P. Chan, 2021, bioRxiv.

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

D. Hernandez, A. Singleton, B. Traynor, 2017, Scientific Reports.

Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population

Sonja W. Scholz, Toshiko Tanaka, D. Hernandez, 2022, Movement Disorders.

ALDH1A1 regulates postsynaptic μ–opioid receptor expression in dorsal striatal projection neurons and mitigates dyskinesia through transsynaptic retinoic acid signaling

H. Cai, Lixin Sun, Jia Yu, 2019, Scientific Reports.

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

Michelle K. Lupton, W. M. van der Flier, M. Nalls, 2016, Neurobiology of Aging.

Large-scale pathway-specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease

D. Hernandez, A. Singleton, Mary B Makarious, 2020, bioRxiv.

Post-Translational Decrease in Respiratory Chain Proteins in the Polg Mutator Mouse Brain

M. Cookson, A. Dillman, Yan Li, 2014, PloS one.

Divergent patterns of healthy aging across human brain regions at single-cell resolution reveal links to neurodegenerative disease

Sonja W. Scholz, M. Nalls, S. Marenco, 2023, bioRxiv.

Unbalanced calcium channel activity underlies selective vulnerability of nigrostriatal dopaminergic terminals in Parkinsonian mice

D. Lovinger, H. Cai, Lixin Sun, 2019, Scientific Reports.

MAPT p.V363I mutation

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

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

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

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study

D. Hernandez, M. Nalls, A. Singleton, 2017, Neurobiology of Aging.

Aldehyde dehydrogenase 1 defines and protects a nigrostriatal dopaminergic neuron subpopulation.

H. Cai, Lixin Sun, Jia Yu, 2014, The Journal of clinical investigation.