Neurologia
Visual dysfunction in Parkinsons disease
Scritto da Brain - current issue   
Neurologia

Patients with Parkinson’s disease have a number of specific visual disturbances. These include changes in colour vision and contrast sensitivity and difficulties with complex visual tasks such as mental rotation and emotion recognition. We ... ...

 
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
Scritto da Brain - current issue   
Neurologia

Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, ... ...

 
Retinal inner nuclear layer volume reflects response to immunotherapy in multiple sclerosis
Scritto da Brain - current issue   
Neurologia

See Petzold (doi:10.1093/aww239) for a scientific commentary on this article.

Assessment of inflammatory disease activity during multiple sclerosis is crucial for selecting ... ...

 
The metabolomic signature of Lebers hereditary optic neuropathy reveals endoplasmic reticulum stress
Scritto da Brain - current issue   
Neurologia

Leber’s hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typi ... ...

 
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Scritto da Brain - current issue   
Neurologia

Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after birth with a profound neurodevelopmental disorder characterized by pontocerebellar hyp ... ...

 
Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3
Scritto da Brain - current issue   
Neurologia

No disease-modifying treatment exists for the fatal neurodegenerative polyglutamine disease known both as Machado-Joseph disease and spinocerebellar ataxia type 3. As a potential route to therapy, we identified small molecules that reduce levels ... ...

 
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Scritto da Brain - current issue   
Neurologia

See Charidimou (doi:10.1093/aww253) for a scientific commentary on this article.

Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy ... ...

 
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