MG Erkkinen, MO Kim… - Cold Spring Harbor …, 2018 - cshperspectives.cshlp.org
Neurodegenerative diseases are a common cause of morbidity and cognitive impairment in older adults. Most clinicians who care for the elderly are not trained to diagnose these …
G Monzio Compagnoni, A Di Fonzo, S Corti… - Molecular …, 2020 - Springer
Although the pathogenesis of neurodegenerative diseases is still widely unclear, various mechanisms have been proposed and several pieces of evidence are supportive for an …
SB Prusiner, AL Woerman… - Proceedings of the …, 2015 - National Acad Sciences
Prions are proteins that adopt alternative conformations that become self-propagating; the PrPSc prion causes the rare human disorder Creutzfeldt–Jakob disease (CJD). We report …
Multiple-system atrophy is a neurodegenerative disease characterized by progressive autonomic failure, parkinsonism, and cerebellar and pyramidal tract symptoms. Glial …
Human genetics has indicated a causal role for the protein α-synuclein in the pathogenesis of familial Parkinson's disease (PD), and the aggregation of synuclein in essentially all …
P Pasanen, L Myllykangas, M Siitonen, A Raunio… - Neurobiology of …, 2014 - Elsevier
We describe the clinical, neuropathological, and genetic features of a Finnish patient with a novel α-synuclein (SNCA) mutation A53E. The patient was clinically diagnosed with atypical …
Mitochondria are increasingly recognized as key players in genetic and acquired renal diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …
S Ashraf, HY Gee, S Woerner, LX Xie… - The Journal of …, 2013 - Am Soc Clin Investig
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination …
A Verstraeten, J Theuns, C Van Broeckhoven - Trends in Genetics, 2015 - cell.com
Parkinson disease (PD) and Parkinson-plus syndromes are genetically heterogeneous neurological diseases. Initial studies into the genetic causes of PD relied on classical …