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UnknownThe Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).
The 2021 VCP Scientific Conference took place virtually from September 9-10, 2021. This conference, planned and organized by the nonprofit patient advocacy group Cure VCP Disease, Inc. (https://www.curevcp.org), was the first VCP focused meeting since the 215th ENMC International Workshop VCP-relate...
S-EPMC9169230 | biostudies-literature
UnknownGenetic heterogeneity of motor neuropathies.

Objective

To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England.

Methods

Detailed neurologic and electrophysiologic assessments and next-generation panel testing or whole exome seque...
S-EPMC5373778 | biostudies-literature
UnknownDevelopment of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
Valosin-containing protein (VCP) associated multisystem proteinopathy (MSP) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, Paget's disease of bone (PDB), frontotemporal dementia (FTD), parkinsonism, and amyotrophic lat...
S-EPMC8800193 | biostudies-literature
UnknownDisease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
De novo or autosomal dominant BAG3 gene variants cause a wide range of skeletal and cardiac muscle diseases encompassing Charcot-Marie-Tooth disease, myofibrillar myopathy, cardiomyopathy or a combination of them. Given the severity and rarity of BAG3-neuromuscular diseases (NMDs), series of patient...
S-EPMC12678052 | biostudies-literature
UnknownFluid-structure interaction simulations outperform computational fluid dynamics in the description of thoracic aorta haemodynamics and in the differentiation of progressive dilation in Marfan syndrome patients.
Abnormal fluid dynamics at the ascending aorta may be at the origin of aortic aneurysms. This study was aimed at comparing the performance of computational fluid dynamics (CFD) and fluid-structure interaction (FSI) simulations against four-dimensional (4D) flow magnetic resonance imaging (MRI) data;...
S-EPMC7062053 | biostudies-literature
ProteomicsMa et al. 2020 Multiplexed, activity based proteome-wide functional residue profiling
Raw mass spectrometric data files associated with manuscript by Ma et al.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2020-12-02 | MSV000086546 | MassIVE
UnknownAortic flow patterns and wall shear stress maps by 4D-flow cardiovascular magnetic resonance in the assessment of aortic dilatation in bicuspid aortic valve disease.

Background

In patients with bicuspid valve (BAV), ascending aorta (AAo) dilatation may be caused by altered flow patterns and wall shear stress (WSS). These differences may explain different aortic dilatation morphotypes. Using 4D-flow cardiovascular magnetic resonance (CMR), we aimed to ana...
S-EPMC5918697 | biostudies-literature
UnknownKRAS Allelic Imbalance Enhances Fitness and Modulates MAP Kinase Dependence in Cancer.
Investigating therapeutic "outliers" that show exceptional responses to anti-cancer treatment can uncover biomarkers of drug sensitivity. We performed preclinical trials investigating primary murine acute myeloid leukemias (AMLs) generated by retroviral insertional mutagenesis in KrasG12D...
S-EPMC5541948 | biostudies-literature
Unknown<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.

Background

Myosin heavy chain 7 (MYH7)-related myopathies (MYH7-RMs) are a group of muscle disorders linked to pathogenic variants in the MYH7 gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype i...
S-EPMC12015026 | biostudies-literature
UnknownPrediction of All-Cause Mortality Following Percutaneous Coronary Intervention in Bifurcation Lesions Using Machine Learning Algorithms.
Stratifying prognosis following coronary bifurcation percutaneous coronary intervention (PCI) is an unmet clinical need that may be fulfilled through the adoption of machine learning (ML) algorithms to refine outcome predictions. We sought to develop an ML-based risk stratification model built on cl...
S-EPMC9224705 | biostudies-literature
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