Results 291 to 300 of about 12,683,086 (405)
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
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
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
Human rights and the olympics: from an ideological paradox to a new anti-corruption legacy. [PDF]
Chatziefstathiou D, Simon Rofe J.
europepmc +1 more source
Bonded and Child Labor in Pakistan: Interview with Human Rights Practitioner Pirbhu Lal Satyan [PDF]
Human Rights Brief
core +1 more source
Coffee Consumption Is Associated With Later Age‐at‐Onset of Parkinson's Disease
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
Climate change, health, and human rights: calling on states to address the health risks of climate change, through the Inter-American Court of Human Rights. [PDF]
Benesch T+3 more
europepmc +1 more source