Author details

Full Name

Juliane Winkelmann

Affiliation

ORCID

Career Start Year

1989

Papers

250

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37095917	Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in leads to severe early-onset Parkinson's disease.		2023
36333996	Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.	Ann Neurol	2023
36416405	Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.	Movement Disorders	2023
37611521	Challenges facing mental health systems arising from the COVID-19 pandemic: Evidence from 14 European and North American countries.		2023
37476319	Challenges in Establishing the Diagnosis of -Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.		2023
36516876	Universal health coverage cannot be universal without oral health.		2023
37212434	Epigenetic Association Analyses and Risk Prediction of RLS.	Mov Disord	2023
37398376	Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.	medRxiv	2023
37075751	POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.	Am J Hum Genet	2023
37188663	Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.	Nat Commun	2023
36997436	Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders.		2023
36692014	Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.	Mov Disord	2023
37365401	Episignature analysis of moderate effects and mosaics.	Eur J Hum Genet	2023
37233989	Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis.	Epigenetics	2023
36860166	Variants in ATP5F1B are associated with dominantly inherited dystonia.		2023
37228895	Skill-Mix Changes Targeting Health Promotion and Prevention Interventions and Effects on Outcomes in all Settings (Except Hospitals): Overview of Reviews.		2023
36678896	Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.	Pharmaceutics	2023
37163803	A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.		2023
37486021	Prioritization, Incentives, and Resource Use for Sustainable Dentistry: The EU PRUDENT Project.		2023
37485550	Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.		2023
34636445	A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.	Mov Disord	2022
35833482	Oral health care in Europe: Financing, access and provision.	Health systems in transition	2022
36096774	A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.	BMC Neurology	2022
36221194	Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected.	Movement Disorders	2022
36088199	Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.	Parkinsonism and Related Disorders	2022
35888152	Association between Usual Dietary Intake of Food Groups and DNA Methylation and Effect Modification by Metabotype in the KORA FF4 Cohort.	Life (Basel)	2022
35639951	Health care patterns and policies in 18 European countries during the first wave of the COVID-19 pandemic: an observational study.	European Journal of Public Health	2022
35872528	Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.	Parkinsonism and Related Disorders	2022
35489115	ExomeChip-based rare variant association study in restless legs syndrome.	Sleep Med	2022
35933239	Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum.	Neurobiology of Aging	2022
35486972	Reassessment of candidate gene studies for idiopathic restless legs syndrome in a large genome-wide association study dataset of European ancestry.	Sleep	2022
36329385	Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.	BMC Neurology	2022
35616059	Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.	Clin Genet	2022
35977450	Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype.	Parkinsonism and Related Disorders	2022
36520381	Whole-Exome Sequencing Study of Consanguineous Parkinson's Disease Families and Related Phenotypes: Report of Twelve Novel Variants.		2022
36684940	Perspective: Lessons from COVID-19 of countries in the European region in light of findings from the health system response monitor.		2022
34311982	European countries' responses in ensuring sufficient physical infrastructure and workforce capacity during the first COVID-19 wave.	Health Policy	2022
34924210	A country-level analysis comparing hospital capacity and utilisation during the first COVID-19 wave across Europe.	Health Policy	2022
34627633	Tackling the COVID-19 pandemic: Initial responses in 2020 in selected social health insurance countries in Europe.	Health Policy	2022
35308871	Concept of the Munich/Augsburg Consortium Precision in Mental Health for the German Center of Mental Health.	Front Psychiatry	2022
35260137	Exploring variation of coverage and access to dental care for adults in 11 European countries: a vignette approach.	BMC Oral Health	2022
34859314	Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.	Neurogenetics	2022
35267244	Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.	Annals of Clinical and Translational Neurology	2022
34954817	Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.	Ann Neurol	2022
34890876	WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.	Parkinsonism Relat Disord	2022
34888668	Intronic elements associated with insomnia and restless legs syndrome exhibit cell-type-specific epigenetic features contributing to MEIS1 regulation.	Human Molecular Genetics	2022
34711443	Balancing financial incentives during COVID-19: A comparison of provider payment adjustments across 20 countries.	Health Policy	2022
34596301	Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.	Mov Disord	2022
34590685	Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.	Brain	2022
35306330	AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.	Parkinsonism and Related Disorders	2022