Results 291 to 300 of about 12,683,086 (405)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

Patient Selection in Deep Brain Stimulation: A Role for Transcranial Direct Current Stimulation to Enhance the Levodopa Challenge?

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dopaminergic medication and deep brain stimulation (DBS) improve motor symptoms in Parkinson's disease (PD), but levodopa response alone may not predict DBS outcomes. We retrospectively analyzed 19 PD patients undergoing levodopa challenges with and without prior transcranial direct current stimulation targeting a defined PD response network ...
Lukas L. Goede   +3 more
wiley   +1 more source

Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Observation studies suggest that coffee consumption may lower the risk and delay the age‐at‐onset (AAO) of Parkinson's disease (PD). The aim of this study was to explore the causal relationship and genetic association between coffee consumption and the AAO, risk, and progression of PD. Using Mendelian randomization, we identified a significant
Dariia Kuzovenkova   +3 more
wiley   +1 more source

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