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Janine Diehl‐Schmid

Inn-Salzach-Klinikum · DE
Area of research
Psychiatry and Mental health · Neurology
Research interest
Research interests include Dementia and Cognitive Impairment Research, Alzheimer's disease research and treatments, Amyotrophic Lateral Sclerosis Research, and Parkinson's Disease Mechanisms and Treatments.
h-index
55
citations
18,551
works
310
NIH funding
primary concept
email

Recent publications

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
Nature Communications 2025cited by 13position: middledoi
Clinical recognition of frontotemporal dementia with right temporal predominance: a consensus statement from the International Working Group
Communications Medicine 2025cited by 4position: middledoi
Clinical recognition of frontotemporal dementia with right anterior temporal predominance: A multicenter retrospective cohort study
Alzheimer s & Dementia 2024cited by 34position: middledoi
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
The American Journal of Human Genetics 2024cited by 13position: middledoi
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica 2022cited by 135position: middledoi
Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood
Biological Psychiatry 2022cited by 49position: middledoi
Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning
JAMA Psychiatry 2022cited by 36position: middledoi
Current Potential for Clinical Optimization of Social Cognition Assessment for Frontotemporal Dementia and Primary Psychiatric Disorders
Neuropsychology Review 2022cited by 17position: middledoi
Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders
Brain 2020cited by 308position: middledoi
New insights on the genetic etiology of Alzheimer’s and related dementia
medRxiv 2020cited by 90position: middledoi
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
Scientific Reports 2020cited by 10position: middledoi
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
Acta Neuropathologica 2019cited by 128position: middledoi
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Scientific Reports 2019cited by 16position: middledoi
Prevalence of amyloid‐β pathology in distinct variants of primary progressive aphasia
Annals of Neurology 2018cited by 199position: middledoi
Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia
Nature Medicine 2018cited by 155position: middledoi
Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase
Journal of Neurology Neurosurgery & Psychiatry 2018cited by 137position: middledoi
CXCR4 involvement in neurodegenerative diseases
Translational Psychiatry 2018cited by 98position: middledoi
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Brain 2018cited by 51position: middledoi
Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Scientific Reports 2018cited by 2position: middledoi
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
Acta Neuropathologica 2017cited by 74position: middledoi
Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Scientific Reports 2017cited by 44position: middledoi
<i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Human Mutation 2016cited by 103position: middledoi
Frontotemporal dementia and its subtypes: a genome-wide association study
The Lancet Neurology 2014cited by 401position: middledoi
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
Acta Neuropathologica 2014cited by 116position: middledoi
Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders
PLoS ONE 2013cited by 60position: middledoi
Reference Cluster Normalization Improves Detection of Frontotemporal Lobar Degeneration by Means of FDG-PET
PLoS ONE 2013cited by 47position: middledoi
A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
Human Mutation 2012cited by 269position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Robert Perneczky · The London College2 papers (2013–2013)Stefan Lorenzl · Ludwig-Maximilians-Universität München1 papers (2013–2013)Angela Jochim · TUM Klinikum1 papers (2013–2013)Alexander Drzezga · Forschungszentrum Jülich1 papers (2013–2013)Brit Mollenhauer · Short and Associates (United States)1 papers (2013–2013)Antje Knehr · University Hospital Heidelberg1 papers (2018–2018)Adrian Danek · Ludwig-Maximilians-Universität München1 papers (2018–2018)Christian Gieger · Cambridge School1 papers (2013–2013)Katherine P. Rankin · University of California, San Francisco1 papers (2022–2022)Konrad Oexle · Technical University of Munich1 papers (2013–2013)Petra Steinacker · Ludwig-Maximilians-Universität München1 papers (2018–2018)Annette Peters · Bayer (Germany)1 papers (2013–2013)Klaus Faßbender · Ludwig-Maximilians-Universität München1 papers (2018–2018)Sarah Anderl‐Straub · University of Antwerp1 papers (2018–2018)Peter M. Andersen · Umeå University1 papers (2018–2018)Martin Lauer · Ludwig-Maximilians-Universität München1 papers (2018–2018)Yolande A.L. Pijnenburg · University of Lausanne1 papers (2022–2022) · 1 papers (2013–2013)Simon Ducharme · McGill University Health Centre1 papers (2022–2022)Marie T. Vanier · Université Claude Bernard Lyon 11 papers (2013–2013)