Search results for "Neuromuscular disease"

Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial)

2017

IntroductionRecent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation of the proteostasis, the cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be the dephosphorylation of eIF2α, a factor involved in the initiation of protein translation. Guanabenz is an alpha-2-adrenergic receptor agonist safely used in past to treat mild hypertension and is now an orphan drug. A pharmacological action recently discovered is its ability to modulate the synthesis of proteins by the activation of translational factors preventing misfolded protein accumula…

Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.

2018

AbstractFriedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identificatio…

JCB887052 Supplemetal Material - Supplemental material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in m…

2019

Supplemental material, JCB887052 Supplemetal Material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in mice using micro-CT and angiography by Vanessa Weyer, Máté E Maros, Andrea Kronfeld, Stefanie Kirschner, Christoph Groden, Clemens Sommer, Yasemin Tanyildizi, Martin Kramer and Marc A Brockmann in Journal of Cerebral Blood Flow & Metabolism

JCB905206 Supplemental Material - Supplemental material for Meprin β: A novel regulator of blood–brain barrier integrity

2020

Supplemental material, JCB905206 Supplemental Material for Meprin β: A novel regulator of blood–brain barrier integrity by Markus Gindorf, Steffen E Storck, Anke Ohler, Franka Scharfenberg, Christoph Becker-Pauly and Claus U Pietrzik in Journal of Cerebral Blood Flow & Metabolism

sj-pdf-2-imr-10.1177_0300060520982657 - Supplemental material for Evaluation of main functional dyspepsia symptoms after probiotic administration in …

2021

Supplemental material, sj-pdf-2-imr-10.1177_0300060520982657 for Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies by Lorenzo Drago, Gabriele Meroni, Dario Pistone, Luigi Pasquale, Giuseppe Milazzo, Fabio Monica, Salvatore Aragona, Leonardo Ficano, Roberto Vassallo and Gastrobiota Group in Journal of International Medical Research

sj-pdf-1-imr-10.1177_0300060520982657 - Supplemental material for Evaluation of main functional dyspepsia symptoms after probiotic administration in …

2021

Supplemental material, sj-pdf-1-imr-10.1177_0300060520982657 for Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies by Lorenzo Drago, Gabriele Meroni, Dario Pistone, Luigi Pasquale, Giuseppe Milazzo, Fabio Monica, Salvatore Aragona, Leonardo Ficano, Roberto Vassallo and Gastrobiota Group in Journal of International Medical Research

sj-pdf-1-imr-10.1177_03000605211073305 - Supplemental material for Guanidinoacetate���creatine in secondary progressive multiple sclerosis: a case re…

2022

Supplemental material, sj-pdf-1-imr-10.1177_03000605211073305 for Guanidinoacetate���creatine in secondary progressive multiple sclerosis: a case report by Sergej M. Ostojic, Jelena Ostojic, Dragana Zanini, Tatjana Jezdimirovic and Valdemar Stajer in Journal of International Medical Research

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

2018

ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confi…

Congenital cytoplasmic body myopathy: case report.

1997

Analysis of F response in upper motoneurone lesions

2009

The F response can provide a measure of motoneurone excitability (MNE) and so it may be used to investigate upper motoneurone disorders. This report studies the F-wave configuration in patients with stroke to evaluate the changes of the central excitability of the motoneurones at different times after an acute cerebral insult. Various parameters of the F response, including amplitude (absolute and F%/M), duration, and persistence have been determined in 26 patients with unilateral hemiplegia and in 32 healthy subjects of both sexes in the same age range. The investigation was carried out applying a series of 20 supramaximal stimuli at 0.5 Hz on tibial and ulnar nerves bilaterally. In all pa…