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Correction to "TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and Parkinsonism." [PDF]

Alzheimers Dement
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Parkinson's Disease and Parkinsonism.

The American Journal of Medicine, 2019
Parkinson's disease is a progressive neurodegenerative disease characterized by tremor and bradykinesia and is a common neurologic ailment. Male sex and advancing age are independent risk factors and, as the population ages, is taking an increasing toll on productivity and medical resources.
M. Hayes
semanticscholar   +3 more sources

Disruption of mitochondrial complex I induces progressive parkinsonism

Nature, 2021
Enrico Zampese, Kristen A Stout, Ben Yang   +2 more
exaly   +2 more sources

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

Movement Disorders, 2017
Susanne A Schneider, Roy N Alcalay
exaly   +2 more sources

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Nature Communications, 2016
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14 ...
Karin Tuschl, Ningning Zhao, Michael A Simpson   +2 more
exaly   +2 more sources

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Nature Genetics, 2006
Alfredo Ramirez, Jan Gründemann, Barbara Stiller   +2 more
exaly   +2 more sources

Genetics of Parkinson’s disease and parkinsonism

Expert Review of Neurotherapeutics, 2007
The past 10 years has seen a shift in our etiological concepts of Parkinson's disease, moving from a nearly exclusively environmentally mediated disease towards a complex disorder with important genetic contributors. The identification of responsible mutations in certain genes, particularly alpha-synuclein, Parkin, PINK1, DJ-1 and LRRK2, has increased ...
David J Nicholl, Michael R. Douglas, Alistair Lewthwaite   +2 more
openaire   +3 more sources

Parkinsonism, movement disorders and genetics in frontotemporal dementia

Nature Reviews Neurology, 2016
José Fidel Baizabal-Carvallo, Joseph Jankovic   +1 more
exaly   +2 more sources