Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.
Gurusamy U et al.
Frontiers in Genetics, 2023
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A et al.
Molecular Neurodegeneration, 2021
34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf
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
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M et al.
Journal of Inherited Metabolic Disease, 2017
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
Mandel H et al.
Journal of Medical Genetics, 2016
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