Associated Papers
Loss of serotonergic function in carriers of PRKN mutations: a [11C]DASB PET study.
de Natale ER et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2026
Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.
Malik M et al.
Npj Parkinson's Disease, 2026
Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.
Lu J et al.
Autophagy, 2026
Neuropathology in genetic Parkinson's disease: a focused review of pathological and clinical findings.
Barbosa PM et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2025
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.
Step K et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.
Kafantari E et al.
Genes, 2025
Animal Models of Parkinson's Disease.
Dawson VL et al.
Cold Spring Harbor Perspectives in Medicine, 2025
The role of mitochondrial genetics in Parkinson's disease: Long-read sequencing as an emerging method.
Tran NLK et al.
Med (new York, N.y.), 2025
The novel protein SEMA3C-319aa triggers glutathione metabolism-dependent ferroptosis in gastric cancer.
Xiao S et al.
Oncogene, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Computational association in parkinson's disease SNPs with brain structural and functional alterations.
Subramaniyan S et al.
Neurogenetics, 2025
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.
Anis S et al.
Parkinsonism & Related Disorders, 2025
Search for a genetic cause of variably protease-sensitive prionopathy.
Lian Y et al.
Plos Pathogens, 2025
Altered reactivity to threatening stimuli in Drosophila models of Parkinson's disease, revealed by a trial-based assay.
Kajtor M et al.
Elife, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Formation of seeding-competent α-synuclein aggregates in parkin-deficient iPSC-derived human neurons.
Schmidt SI et al.
Npj Parkinson's Disease, 2025
Dopamine and cortical neurons with different Parkinsonian mutations show variation in lysosomal and mitochondrial dysfunction.
Chedid J et al.
Npj Parkinson's Disease, 2025
Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.
Erro ME et al.
Neurology. Genetics, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Search for a genetic cause of variably protease-sensitive prionopathy.
Lian Y et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Glutathione S-transferase: A keystone in Parkinson's disease pathogenesis and therapy.
Padhan P et al.
Molecular and Cellular Neurosciences, 2025
Computational Study of the Activation Mechanism of Wild-Type Parkin and Its Clinically Relevant Mutant.
Cinviz ZN et al.
Acs Chemical Neuroscience, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
PRKN-Gene-Related Parkinsonism: An Experience from a Tertiary Centre and Literature Review of Asian Cohort.
Holla VV et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Case study of a neuroendocrine tumor of uncertain origin: single-cell transcriptomics unravels potential primary location.
Tatyana F et al.
Journal of Cancer Research and Clinical Oncology, 2024
Dopamine neuron dysfunction and loss in the PrknR275W mouse model of juvenile parkinsonism.
Regoni M et al.
Brain : a Journal of Neurology, 2024
Biological and therapeutic implications of the cancer-related germline mutation landscape in lung cancer.
Panagiotou E et al.
The Lancet. Respiratory Medicine, 2024
Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson's disease patient with PRKN gene mutation.
Cheng J et al.
Stem Cell Research, 2024
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
Pediatric-onset PRKN disease: New insights into an understudied population.
Gonul Oner O et al.
Journal of Parkinson's Disease, 2024
Parkin R274W mutation affects muscle and mitochondrial physiology.
Sevegnani M et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Lorenzo-Betancor O et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Activation of parkin by a molecular glue.
Sauvé V et al.
Nature Communications, 2024