PubMed Journal Database | Brain : a journal of neurology RSS

11:11 EST 28th January 2015 | BioPortfolio

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Showing PubMed Articles 1–25 of 364 from Brain : a journal of neurology


In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography.

Transthyretin familial amyloid polyneuropathy is a rare, autosomal-dominant inherited multisystem disorder usually manifesting with a rapidly progressive, axonal, distally-symmetric polyneuropathy. The detection of nerve injury by nerve conduction studies is limited, due to preferential involvement of small-fibres in early stages. We investigated whether lower limb nerve-injury can be detected, localized and quantified in vivo by high-resolution magnetic resonance neurography. We prospectively included 20 p...


Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients.

Inherited white matter diseases are rare and heterogeneous disorders usually encountered in infancy. Adult-onset forms are increasingly recognized. Our objectives were to determine relative frequencies of genetic leukoencephalopathies in a cohort of adult-onset patients and to evaluate the effectiveness of a systematic diagnostic approach. Inclusion criteria of this retrospective study were: (i) symmetrical involvement of white matter on the first available brain MRI; (ii) age of onset above 16 years. Patie...


Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice.

Machado-Joseph disease is a neurodegenerative disease without effective treatment. Patients with Machado-Joseph disease exhibit significant motor impairments such as gait ataxia, associated with multiple neuropathological changes including mutant ATXN3 inclusions, marked neuronal loss and atrophy of the cerebellum. Thus, an effective treatment of symptomatic patients with Machado-Joseph disease may require cell replacement, which we investigated in this study. For this purpose, we injected cerebellar neural...

Thursday 6th December 1122

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Wednesday 5th December 1122

Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.




Leigh syndrome: the genetic heterogeneity story continues.


The remarkable properties of amyloid-β derived from human Alzheimer's disease brain: swinging the streetlight.


A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriers.


Neurovascular regulation is critical for metabolic recovery from spreading depression.


Reply: Intravenous thrombolysis for ischaemic strokes: a call for reappraisal.


Membrane-shaping disorders: a common pathway in axon degeneration.

Neurons with long projections are particularly liable to damage, which is reflected by a large group of hereditary neurodegenerative disorders that primarily affect these neurons. In the group of hereditary spastic paraplegias motor axons of the central nervous system degenerate, while distal pure motor neuropathies, Charcot-Marie-Tooth disorders and the group of hereditary sensory and autonomic neuropathies are characterized by degeneration of peripheral nerve fibres. Because the underlying pathologies sha...


Intravenous thrombolysis for ischaemic strokes: a call for reappraisal.


Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently associated with point mutations of mitochondrial DNA. Peripheral neuropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and characteristics varies considerably among the different syndromes and genetic aetiologies. Based on clinical observations, we systematically investigated...


Immunotherapy alleviates amyloid-associated synaptic pathology in an Alzheimer's disease mouse model.

Cognitive decline in Alzheimer's disease is attributed to loss of functional synapses, most likely caused by synaptotoxic, oligomeric forms of amyloid-β. Many treatment options aim at reducing amyloid-β levels in the brain, either by decreasing its production or by increasing its clearance. We quantified the effects of immunotherapy directed against oligomeric amyloid-β in Tg2576 mice, a mouse model of familial Alzheimer's disease. Treatment of 12-month-old mice with oligomer-specific (A-887755) or confo...


Big Data: could it ever cure Alzheimer's disease?


Autonomic failure in CANVAS syndrome.


Identification of the SCA21 disease gene: remaining challenges and promising opportunities.


'Don't delay, start today': delaying levodopa does not delay motor complications.


Genetic characterization of cognitive impairment in Parkinson's disease.


Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers.

Knowledge about the nature of pathomolecular alterations preceding onset of symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave the way for the discovery of valuable therapeutic targets but might also govern future concepts of pre-manifest disease modifying treatments. MicroRNAs are central regulators of transcriptome plasticity and participate in pathogenic cascades and/or mirror cellular adaptation to insults. We obtained comprehensive expression profiles of microRNAs in t...

Tuesday 5th July 1058

Apraxia: a gestural or a cognitive disorder?

Monday 4th July 1058

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Neurology and psychiatry in Babylon.

We here review Babylonian descriptions of neurological and psychiatric disorders, including epilepsy, stroke, psychoses, obsessive compulsive disorder, phobias, psychopathic behaviour, depression and anxiety. Most of these accounts date from the first Babylonian dynasty of the first half of the second millennium BC, within a millennium and a half of the origin of writing. The Babylonians were remarkably acute and objective observers of medical disorders and human behaviour. Their detailed descriptions are s...


Early identification of 'acute-onset' chronic inflammatory demyelinating polyneuropathy.

Distinguishing patients with acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy prior to relapse is often challenging at the onset of their clinical presentation. In the present study, nerve excitability tests were used in conjunction with the clinical phenotype and disease staging, to differentiate between patients with acute-onset chronic inflammatory demyelinating polyneuropathy and patients with acute inflammatory demyelinating polyneuropat...

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