J. Trinh

发表

Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans

Nansheng Chen, D. Baillie, B. Uyar, 2011, Nucleic acids research.

DNAJC13 mutations in Parkinson disease.

Wyeth W Wasserman, Virginie Bernard, Silke Appel-Cresswell, 2014, Human molecular genetics.

Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing

I. König, N. Brüggemann, C. Klein, 2021, Neurology: Genetics.

Age at Onset of LRRK2 p.Gly2019Ser Is Related to Environmental and Lifestyle Factors

I. König, M. Farrer, C. Klein, 2020, Movement disorders : official journal of the Movement Disorder Society.

Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease

M. Nalls, A. Singleton, C. Blauwendraat, 2019, Neurobiology of Aging.

Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment

K. Kandaswamy, N. Brüggemann, K. Lohmann, 2019, Journal of Neurology.

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Maximilian E. R. Weiss, K. Kandaswamy, K. Lohmann, 2019, American journal of human genetics.

Mitochondrial Mechanisms of LRRK2 G2019S Penetrance

K. Wasner, C. Klein, J. Trinh, 2020, Frontiers in Neurology.

Genotype‐phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

I. König, K. Lohmann, C. Lill, 2018, Movement disorders : official journal of the Movement Disorder Society.

Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

M. Farrer, A. Rajput, A. Rajput, 2013, Movement disorders : official journal of the Movement Disorder Society.

Benchmarking Low-Frequency Variant Calling With Long-Read Data on Mitochondrial DNA

P. May, J. Trinh, A. Grünewald, 2022, Frontiers in Genetics.

The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab‐Berber population

M. Farrer, I. Guella, J. Trinh, 2014, European journal of neurology.

Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity

I. König, K. Lohmann, P. Urban, 2020, Annals of neurology.

Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation

M. Spielmann, K. Wasner, N. Hattori, 2022, Movement disorders : official journal of the Movement Disorder Society.

LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort

J. Volkmann, D. Gruber, P. Bauer, 2021, Frontiers in Neurology.

LRRK2 parkinsonism in Tunisia and Norway: A comparative analysis of disease penetrance

M. Farrer, J. Trinh, J. Aasly, 2014, Neurology.

Needle in a Haystack: The Common Can Inform the Rare in Restless Legs Syndrome

C. Klein, J. Trinh, 2020, Annals of neurology.

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

P. May, M. Farrer, A. Lang, 2022, medRxiv.

A commentary on fine mapping and resequencing of the PARK16 locus in Parkinson’s disease

J. Trinh, O. Ross, C. Vilariño-Güell, 2015, Journal of Human Genetics.

Molecular mechanisms defining penetrance of LRRK2-associated Parkinson’s disease

Emma L. Schymanski, E. Schymanski, J. Trinh, 2022, Medizinische Genetik.

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

N. Brüggemann, C. Klein, R. Rosales, 2022, Genes.

Variants in Miro1 Cause Alterations of ER-Mitochondria Contact Sites in Fibroblasts from Parkinson’s Disease Patients

R. Krüger, E. Glaab, J. Trinh, 2019, Journal of clinical medicine.

Mosaic deletions in X-linked dystonia-parkinsonism influence repeat stability and disease onset

C. Depienne, C. Klein, R. Rosales, 2022, medRxiv.

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

S. Szymczak, K. Lohmann, C. Depienne, 2022, Movement disorders : official journal of the Movement Disorder Society.

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

K. Lohmann, G. Gillessen‐kaesbach, J. Trinh, 2017, Journal of Human Genetics.

LRRK2-Related Parkinson Disease

M. Farrer, I. Guella, J. Trinh, 2014 .

Nanopore Single-Molecule Sequencing for Mitochondrial DNA Methylation Analysis: Investigating Parkin-Associated Parkinsonism as a Proof of Concept

K. Wasner, C. Klein, J. Trinh, 2021, Frontiers in Aging Neuroscience.

Analysis of mitochondrial genome methylation using Nanopore single-molecule sequencing

C. Klein, J. Trinh, Lasse Sinkkonen, 2021, bioRxiv.

Improving analysis of the vaginal microbiota of women undergoing assisted reproduction using nanopore sequencing

J. Rupp, J. Trinh, K. Neumann, 2022, Journal of Assisted Reproduction and Genetics.

LRP10 in α-synucleinopathies

Sonja W. Scholz, D. Hernandez, M. Nalls, 2018, The Lancet Neurology.

Expression profile of NSDHL in human peripheral tissues

C. Boerkoel, J. Trinh, G. Hendson, 2011, Journal of Molecular Histology.

Interaction of mitochondrial polygenic score and environmental factors in LRRK2 p.Gly2019Ser parkinsonism

M. Spielmann, M. Farrer, J. Trinh, 2023, medRxiv.

Coffee, smoking and aspirin are associated with age at onset in idiopathic Parkinson’s disease

I. König, C. Klein, J. Trinh, 2022, Journal of Neurology.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

Jun Z. Li, Catherine A. Collins, N. Brüggemann, 2018, Annals of neurology.

DNAJC13 genetic variants in parkinsonism

Martin J. McKeown, A. Rajput, A. Rajput, 2015, Movement disorders : official journal of the Movement Disorder Society.

A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism

J. Trinh, J. Duda, C. Vilariño-Güell, 2014, Neurobiology of Aging.

Utility and implications of exome sequencing in early‐onset Parkinson's disease

J. Volkmann, P. Bauer, N. Brüggemann, 2018, Movement disorders : official journal of the Movement Disorder Society.

Advances in the genetics of Parkinson disease

M. Farrer, J. Trinh, 2013, Nature Reviews Neurology.

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

K. Lohmann, A. Rolfs, C. Klein, 2018, Journal of Human Genetics.

Identification of genetic modifiers in LRRK2 parkinsonism

J. Trinh, 2016 .

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Maximilian E. R. Weiss, K. Kandaswamy, K. Lohmann, 2019, Journal of Neurodevelopmental Disorders.

Genetic variability of the retromer cargo recognition complex in parkinsonism

Martin J. McKeown, A. Rajput, A. Rajput, 2015, Movement disorders : official journal of the Movement Disorder Society.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

J. Trinh, J. Aasly, M. Farrer, 2017, Movement disorders clinical practice.

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

I. König, N. Brüggemann, C. Depienne, 2022, Brain : a journal of neurology.

DCTN1 p.K56R in progressive supranuclear palsy.

Martin J. McKeown, M. Farrer, A. Rajput, 2016, Parkinsonism & related disorders.

GBA in Parkinson's disease: variant detection and pathogenicity scoring matters

M. Farrer, J. Trinh, J. Aasly, 2023, medRxiv.

Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

M. Spielmann, N. Brüggemann, M. Glatzel, 2022, International journal of molecular sciences.

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

M. Spielmann, K. Lohmann, C. Lill, 2023, European journal of medical genetics.

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency? Response from the authors.

A. Lang, D. Breen, C. Klein, 2020, Parkinsonism & related disorders.

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?

A. Lang, D. Breen, C. Klein, 2020, Parkinsonism & Related Disorders.

Genotype–Phenotype Relations for the Atypical Parkinsonism Genes:MDSGene Systematic Review

I. König, H. Huppertz, M. Stamelou, 2021, Movement disorders : official journal of the Movement Disorder Society.

Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease

James E. Tomkins, B. Alipanahi, J. Trojanowski, 2021, Annals of neurology.

DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study

T. Foroud, A. Brice, S. Lesage, 2016, The Lancet Neurology.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

James E. Tomkins, B. Alipanahi, J. Trojanowski, 2020, medRxiv.

Disease penetrance of late-onset parkinsonism: a meta-analysis.

M. Farrer, I. Guella, J. Trinh, 2014, JAMA neurology.

Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers

I. König, M. Farrer, C. Klein, 2019, Annals of neurology.

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci

N. Brüggemann, C. Klein, J. Trinh, 2019, Front. Neurol..

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

K. Lohmann, A. Münchau, J. Trinh, 2023, Cerebellum.

STX6 rs1411478 is not associated with increased risk of Parkinson's disease.

Alan Donald, M. Farrer, A. Rajput, 2013, Parkinsonism & related disorders.

Special Issue “Parkinson’s Disease: Genetics and Pathogenesis”

S. Lesage, J. Trinh, 2023, Genes.

Expression profile of NSDHL in human peripheral tissues

C. Boerkoel, J. Trinh, G. Hendson, 2012, Journal of Molecular Histology.

Genome-wide case-only analysis of gene-gene interactions with known Parkinson’s disease risk variants reveals link between LRRK2 and SYT10

A. Singleton, H. Leonard, C. Blauwendraat, 2023, npj Parkinson's Disease.

Lifestyle factors and clinical severity of Parkinson’s disease

J. Trinh, M. Kasten, A. Grünewald, 2023, Scientific reports.

Coffee, smoking and aspirin are associated with age at onset and clinical severity in idiopathic Parkinson's disease

C. Klein, J. Trinh, M. Kasten, 2021, medRxiv.

Detecting somatic mosaicism: considerations and clinical implications

A. Cohen, J. Trinh, X. Ye, 2015, Clinical genetics.

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

Maximilian E. R. Weiss, K. Kandaswamy, K. Lohmann, 2019, Journal of Neurodevelopmental Disorders.

Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism

M. Spielmann, A. Caliebe, J. Trinh, 2023, Movement disorders : official journal of the Movement Disorder Society.

Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family

K. Lohmann, J. Trinh, M. Kauffman, 2023, Movement Disorders.

Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review

K. Lohmann, J. Trinh, C. Marras, 2023, European journal of neurology.

Novel LRRK2 mutations in Parkinsonism.

Martin J. McKeown, M. Farrer, A. Rajput, 2015, Parkinsonism & Related Disorders.