Genetics and pathogenesis of Parkinson's syndrome
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …
The genetic architecture of Parkinson's disease
Parkinson's disease is a complex neurodegenerative disorder for which both rare and
common genetic variants contribute to disease risk, onset, and progression. Mutations in …
common genetic variants contribute to disease risk, onset, and progression. Mutations in …
Parkinson's disease genetics and pathophysiology
GE Vázquez-Vélez, HY Zoghbi - Annual review of neuroscience, 2021 - annualreviews.org
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by
degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in …
degeneration of the substantia nigra pars compacta and by accumulation of α-synuclein in …
Genetics of Parkinson's disease: an introspection of its journey towards precision medicine
S Bandres-Ciga, M Diez-Fairen, JJ Kim… - Neurobiology of …, 2020 - Elsevier
ABSTRACT A substantial proportion of risk for Parkinson's disease (PD) is driven by
genetics. Progress in understanding the genetic basis of PD has been significant. So far …
genetics. Progress in understanding the genetic basis of PD has been significant. So far …
The genetics of Parkinson's disease and implications for clinical practice
JO Day, S Mullin - Genes, 2021 - mdpi.com
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …
Cognitive decline in Parkinson disease
Dementia is a frequent problem encountered in advanced stages of Parkinson disease (PD).
In recent years, research has focused on the pre-dementia stages of cognitive impairment in …
In recent years, research has focused on the pre-dementia stages of cognitive impairment in …
The future of stem cell therapies for Parkinson disease
M Parmar, S Grealish, C Henchcliffe - Nature Reviews Neuroscience, 2020 - nature.com
Cell-replacement therapies have long been an attractive prospect for treating Parkinson
disease. However, the outcomes of fetal tissue-derived cell transplants in individuals with …
disease. However, the outcomes of fetal tissue-derived cell transplants in individuals with …
A review of Gaucher disease pathophysiology, clinical presentation and treatments
J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …
The pathogenesis of Parkinson's disease
Parkinson's disease is a progressive neurodegenerative condition associated with the
deposition of aggregated α-synuclein. Insights into the pathogenesis of Parkinson's disease …
deposition of aggregated α-synuclein. Insights into the pathogenesis of Parkinson's disease …
Proteome profiling of cerebrospinal fluid reveals biomarker candidates for Parkinson's disease
Parkinson's disease (PD) is a growing burden worldwide, and there is no reliable biomarker
used in clinical routines to date. Cerebrospinal fluid (CSF) is routinely collected in patients …
used in clinical routines to date. Cerebrospinal fluid (CSF) is routinely collected in patients …