Zane Jaunmuktane, David Capper, David T. W. Jones, Daniel Schrimpf, Martin Sill, Monika Dutt, Nirosha Suraweera, Stefan M. Pfister, Andreas von Deimling and Sebastian Brandner February 20, 2019

The introduction of the classification of brain tumours based on their DNA methylation profile has significantly changed the diagnostic approach for cases with ambiguous histology, non-informative or contradic…

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admin February 20, 2019

Abstract

In recent years, evidence has accumulated to suggest that mutant huntingtin protein (mHTT) can spread into healthy tissue in a prion-like fashion. This theory, however, remains controversial. To fully address this concept and to understand the possible consequences of mHTT spreading to Huntington’s disease pathology, we investigated the effects of exogenous human fibrillar mHTT (Q48) and huntingtin (HTT) (Q25) N-terminal fragments in three cellular models and three distinct animal paradigms.… Read More...

Denson G. Fujikawa February 20, 2019

Summary

Ketamine is currently being used as an anesthetic/antiepileptic drug in refractory status epilepticus. To validate its use, 2 clinical trials are recruiting patients. However, preclinical studies of its use in chemically induced status epilepticus in rodents have shown that it is remarkably neuroprotective, through N‐methyl‐d‐aspartate–receptor blockade, even when given after the onset of status epilepticus.… Read More...

Amy S. Grinberg, Elizabeth K. Seng February 20, 2019

Objective

This study aims to investigate the psychometric properties (component structure, reliability, and construct validity) of the Headache‐Specific Locus of Control scale in several clinical migraine populations.

Background

Headache‐specific locus of control beliefs may impact a person’s behavioral decisions that affect the likelihood of migraine attack onset, emotional responses to migraine attacks, coping strategies used, and treatment adherence.… Read More...

V. Ricotti, V. Selby, D. Ridout, J. Domingos, V. Decostre, A. Mayhew, M. Eagle, J. Butler, M. Guglieri, M. Van der Holst, M. Jansen, J.J.G.M. Verschuuren, I.J.M. de Groot, E.H. Niks, L. Servais, V. Straub, T. Voit, J.Y. Hogrel, F. Muntoni February 20, 2019

Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disorder with an estimated incidence of approximately 1 in 3.500 to 1 in 5.000 live male births. [1–3] DMD is caused by mutations in the dystrophin gene (DMD) that lead to an absence or near-absence of dystrophin, a protein essential for muscle cell integrity.… Read More...

Ceren Günbey, Kutay Sel, Çağrı Mesut Temuçin, Hayrettin Hakan Aykan, Bahadır Konuşkan, Tevfik Karagöz, Banu Anlar February 20, 2019

Congenital myasthenic syndromes (CMS) are genetically inherited defects of the neuromuscular junction (NMJ) resulting in weakness and fatigability in skeletal, extraocular or bulbar muscles [1, 2]. They are divided into three groups according to the site of the defect: presynaptic, synaptic, or postsynaptic, the latter being the most common.… Read More...

Gabriel Cea, Juan Pablo Contreras, Shirley Aguilar, Julia Vera February 20, 2019

Bilateral radial palsy is an uncommon clinical presentation, and the few cases reported in the literature are due to compressive injuries, such as in the use of axillary crutch [1] or birthing bar during labour [2]. Non-compressive demyelinated inflammatory mononeuropathy has been reported [3] but it is not of sudden onset nor does it present bilaterally simultaneously.… Read More...

Jens Spiesshoefer, Maya Runte, Anna Heidbreder, Michael Dreher, Peter Young, Tobias Brix, Matthias Boentert February 20, 2019

Myotonic dystrophy type I (DM1; Online Mendelian Inheritance in Man® ID 160900) is a hereditary multi-system disorder characterized by myopathic facies, distal muscle wasting, myotonia, bilateral cataract, endocrine and cardiac conduction abnormalities. The prevalence of DM1 in industrialized countries is 3-15/100,000.… Read More...

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