Neurologia
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
Scritto da Brain - current issue   
Neurologia

Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central nervous system at various stages of development, leading to br ... ...

 
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
Scritto da Brain - current issue   
Neurologia

Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structu ... ...

 
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
Scritto da Brain - current issue   
Neurologia

Thioredoxin 2 (TXN2; also known as Trx2) is a small mitochondrial redox protein essential for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Exome sequencing in a 16-year-old adolescent ... ...

 
Dopamine selectively remediates 'model-based reward learning: a computational approach
Scritto da Brain - current issue   
Neurologia

Patients with loss of dopamine due to Parkinson’s disease are impaired at learning from reward. However, it remains unknown precisely which aspect of learning is impaired. In particular, learning from reward, or reinforcement learning, can ... ...

 
Human autoantibodies to amphiphysin induce defective presynaptic vesicle dynamics and composition
Scritto da Brain - current issue   
Neurologia

See Irani (doi:10.1093/awv364) for a scientific commentary on this article. 

Stiff-person syndrome is the prototype of a central nervous system disorder with autoantibo ... ...

 
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2
Scritto da Brain - current issue   
Neurologia

Ion channel dysfunction causes a range of neurological disorders by altering transmembrane ion fluxes, neuronal or muscle excitability, and neurotransmitter release. Genetic neuronal channelopathies affecting peripheral axons provide a unique opp ... ...

 
Temporoparietal encoding of space and time during vestibular-guided orientation
Scritto da Brain - current issue   
Neurologia

When we walk in our environment, we readily determine our travelled distance and location using visual cues. In the dark, estimating travelled distance uses a combination of somatosensory and vestibular (i.e. inertial) cues. The observed inabilit ... ...

 
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