Results 71 to 80 of about 52,464 (357)
Congenital muscular dystrophies: New aspects of an expanding group of disorders [PDF]
The congenital muscular dystrophies comprise a genetically and clinically heterogeneous group of disorders characterized by early onset of progressive muscle weakness and often involvement of other organ systems such as the brain and eyes.
Cohn, Ronald D., Lisi, Matthew T.
core +1 more source
Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]
, 2016 Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly +7 more
core +2 more sources
Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi +7 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 This manuscript summarizes a case of biallelic dystrophin (DMD) variants in a mildly affected female patient and additionally highlights the phenotypic spectrum of one of the patient's two DMD variants, a deletion of exons 49–51. This deletion previously had few reports in the published literature, despite its frequency within our institution's ...
Elizabeth A. Ulm +3 more
wiley +1 more source
Advances in imaging of brain abnormalities in neuromuscular disease
Therapeutic Advances in Neurological Disorders, 2019 Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj +1 more source
Three case series involving progresive motor deficit [PDF]
Romanian Journal of Neurology, 2016 The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana +3 more
doaj +1 more source
Incorporating baseline covariates to validate surrogate endpoints with a constant biomarker under control arm [PDF]
arXiv, 2021 A surrogate endpoint S in a clinical trial is an outcome that may be measured earlier or more easily than the true outcome of interest T. In this work, we extend causal inference approaches to validate such a surrogate using potential outcomes. The causal association paradigm assesses the relationship of the treatment effect on the surrogate with the ...
arxiv
Cardiomyopathy in muscular dystrophy [PDF]
QJM: An International Journal of Medicine, 2017 none
Indorkar, R +4 more
openaire +4 more sources
Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]
, 2006 The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Hoen, PAC't +3 more
core
Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury. Despite a diverse array of genetic drivers, many NMDs share similar patterns of exercise intolerance and higher concentrations of muscle injury proteins ...
Mads G. Stemmerik +5 more
wiley +1 more source