Associated Papers
An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.
Asmi S et al.
Ageing Research Reviews, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.
Carrillo F et al.
Neurobiology of Disease, 2025
A heterozygous variation of PINK1 is potentially associated with essential tremor in a Chinese family.
Wang B et al.
Neurogenetics, 2025
Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.
Lucchesi M et al.
International Journal of Molecular Sciences, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Cytosolic retention of HtrA2 during mitochondrial protein import stress triggers the DELE1-HRI pathway.
Bi PY et al.
Communications Biology, 2024
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
Whole-Genome Study of a Multigenerational Family with Essential Tremor.
Zhang M et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022
Unraveling the Dichotomy of Enigmatic Serine Protease HtrA2.
Chakraborty A et al.
Frontiers in Molecular Biosciences, 2022
Targeting PDZ domains as potential treatment for viral infections, neurodegeneration and cancer.
Nardella C et al.
Biology Direct, 2021
Genomic Markers for Essential Tremor.
Jiménez-Jiménez FJ et al.
Pharmaceuticals (basel, Switzerland), 2021
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
Saini P et al.
Neurobiology of Aging, 2021
Understanding the Multiple Role of Mitochondria in Parkinson's Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network.
Nicoletti V et al.
Frontiers in Cell and Developmental Biology, 2021
Genetic testing of FUS, HTRA2, and TENM4 genes in Chinese patients with essential tremor.
Yan YP et al.
Cns Neuroscience & Therapeutics, 2020
Extended Study of NUS1 Gene Variants in Parkinson's Disease.
Yuan L et al.
Frontiers in Neurology, 2020
[Essential tremor: genetic update].
Deng H et al.
Expert Reviews in Molecular Medicine, 2019
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Kovacs-Nagy R et al.
Neuropediatrics, 2018
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.
Keogh MJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process.
Karimi-Moghadam A et al.
Cellular and Molecular Neurobiology, 2018
Mitochondrial HTRA2 Plays a Positive, Protective Role in Dictyostelium discoideum but Is Cytotoxic When Overexpressed.
Chen S et al.
Genes, 2018
The genetic architecture of mitochondrial dysfunction in Parkinson's disease.
Larsen SB et al.
Cell and Tissue Research, 2018
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Boot E et al.
Neurology, 2018
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.
Gambardella S et al.
Parkinson's Disease, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Molecular motion regulates the activity of the Mitochondrial Serine Protease HtrA2.
Merski M et al.
Cell Death & Disease, 2017
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.
Fitzgerald JC et al.
Brain : a Journal of Neurology, 2017
Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.
He YC et al.
Parkinson's Disease, 2017
Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.
Casadei N et al.
Human Molecular Genetics, 2016
A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.
Renaud M et al.
Bmc Neurology, 2016
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
Mandel H et al.
Journal of Medical Genetics, 2016
Mitochondrial dysfunction in Parkinson's disease.
Bose A et al.
Journal of Neurochemistry, 2016
modPDZpep: a web resource for structure based analysis of human PDZ-mediated interaction networks.
Sain N et al.
Biology Direct, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 2016
Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.
Casadei N et al.
Human Molecular Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2015