Results 21 to 30 of about 189,072 (321)
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022 Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han +5 more
wiley +1 more source
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
Italian Journal of Pediatrics, 2021 Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language.
Marcello Scala +10 more
doaj +1 more source
Severity classification in cases of Collagen VI-related myopathy with Convolutional Neural Networks and handcrafted texture features [PDF]
2022 IEEE International Conference on Image Processing (ICIP),
Bordeaux, France, 2022 Magnetic Resonance Imaging (MRI) is a non-invasive tool for the clinical assessment of low-prevalence neuromuscular disorders. Automated diagnosis methods might reduce the need for biopsies and provide valuable information on disease follow-up. In this paper, three methods are proposed to classify target muscles in Collagen VI-related myopathy cases ...
arxiv +1 more source
Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022 Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh +5 more
wiley +1 more source
Cell Death and Disease, 2023 Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet +21 more
doaj +1 more source
International Journal of Endorsing Health Science Research, 2021 Background: Now, a days myofascial trigger points are tremendously occurring and become a stressful part of nearly any person at any time in a lifetime. This study compares the effects of ischemic compression pressure with spray and stretch technique to ...
Urooj Khan +3 more
doaj +1 more source
Beyond MeSH: Fine-Grained Semantic Indexing of Biomedical Literature based on Weak Supervision [PDF]
Information Processing and Management 57 (2020) 102282, 2020 In this work, we propose a method for the automated refinement of subject annotations in biomedical literature at the level of concepts. Semantic indexing and search of biomedical articles in MEDLINE/PubMed are based on semantic subject annotations with MeSH descriptors that may correspond to several related but distinct biomedical concepts.
arxiv +1 more source
Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2041-2046, December 2022., 2022 Abstract The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is necessary for quantitative data pooling. We applied the modified Friedreich Ataxia Rating Scale
Christian Rummey +5 more
wiley +1 more source
Elastocapillary network model of inhalation [PDF]
Physical Review Research, 2, 043382 (2020), 2020 The seemingly simple process of inhalation relies on a complex interplay between muscular contraction in the thorax, elasto-capillary interactions in individual lung branches, propagation of air between different connected branches, and overall air flow into the lungs.
arxiv +1 more source
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source