[HTML][HTML] Monogenic Parkinson's disease: genotype, phenotype, pathophysiology, and genetic testing

F Jia, A Fellner, KR Kumar - Genes, 2022 - mdpi.com
Genes | Free Full-Text | Monogenic Parkinson’s Disease: Genotype, Phenotype,
Pathophysiology, and Genetic Testing Next Article in Journal enChIP-Seq Analyzer: A …

MicroRNA dysregulation in Parkinson's disease: a narrative review

YH Nies, NH Mohamad Najib, WL Lim… - Frontiers in …, 2021 - frontiersin.org
Parkinson's disease (PD) is a severely debilitating neurodegenerative disease, affecting the
motor system, leading to resting tremor, cogwheel rigidity, bradykinesia, walking and gait …

Defining the riddle in order to solve it: there is more than one “Parkinson's disease”

TF Outeiro, RN Alcalay, A Antonini, J Attems… - Movement …, 2023 - Wiley Online Library
Background More than 200 years after James Parkinsondescribed a clinical syndrome
based on his astute observations, Parkinson's disease (PD) has evolved into a complex …

Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease

K Daida, M Funayama, KJ Billingsley… - Movement …, 2023 - Wiley Online Library
Abstract Background Parkin RBR E3 ubiquitin‐protein ligase (PRKN) mutations are the most
common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is …

Towards a global view of Parkinson's disease genetics

M Khani, C Cerquera‐Cleves, M Kekenadze… - Annals of …, 2024 - Wiley Online Library
Parkinson's disease (PD) is a global health challenge, yet historically studies of PD have
taken place predominantly in European populations. Recent genetics research conducted in …

Differences in survival across monogenic forms of Parkinson's disease

A Lanore, F Casse, C Tesson, T Courtin… - Annals of …, 2023 - Wiley Online Library
Objective Survival of patients with monogenic Parkinson's disease may depend on the
causative genes associated with the disease. In this study, we compare survival of patients …

Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic

SY Lim, AH Tan, A Ahmad-Annuar… - The Lancet …, 2024 - thelancet.com
Knowledge on the genetic basis of Parkinson's disease has grown tremendously since the
discovery of the first monogenic form, caused by a mutation in α-synuclein, and with the …

Age-associated insolubility of parkin in human midbrain is linked to redox balance and sequestration of reactive dopamine metabolites

JM Tokarew, DN El-Kodsi, NA Lengacher, TK Fehr… - Acta …, 2021 - Springer
The mechanisms by which parkin protects the adult human brain from Parkinson disease
remain incompletely understood. We hypothesized that parkin cysteines participate in redox …

Genotype–phenotype correlation in PRKN-associated Parkinson's disease

PJ Menon, S Sambin, B Criniere-Boizet… - npj Parkinson's …, 2024 - nature.com
Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive
Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international …

[HTML][HTML] Parkinson's disease updates: Addressing the pathophysiology, risk factors, genetics, diagnosis, along with the medical and surgical treatment

P Prajjwal, HSF Sanga, K Acharya… - Annals of Medicine …, 2023 - journals.lww.com
After only Alzheimer's disease (AD), Parkinson's disease (PD) is the second most prevalent
neurodegenerative disease. The incidence of this disease increases with age, especially for …