Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis
Acta Neuropathologica CommunicationsInclusion body myositis (IBM) is an inflammatory myopathy that displays proximal and distal muscle weakness. At the histopathological level, the muscles of IBM patients show inflammatory infiltrates, rimmed vacuoles and mitochondrial changes.
Judith Cantó-Santos +19 more
doaj +1 more source
Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar +7 more
wiley +1 more source
Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues [PDF]
, 1997 Evan Reid
openalex +1 more source
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
Specific Sequences of the Sm and Sm-like (Lsm) Proteins Mediate Their Interaction with the Spinal Muscular Atrophy Disease Gene Product (SMN) [PDF]
, 2000 Westley J. Friesen, Gideon Dreyfuss
openalex +1 more source
Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi +6 more
wiley +1 more source
Subthalamic Nucleus Oscillatory Characteristics in Meige, Cervical Dystonia and Generalized Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Deep brain stimulation offers a unique opportunity to record neural activity of the basal ganglia. While much work in dystonia has focused on the globus pallidus internus, expanding research to investigate subthalamic nucleus (STN) activity in various dystonia types is critical to provide a comprehensive understanding of dystonia ...
Zhu Guan‐Yu +14 more
wiley +1 more source
Clinical and Molecular Studies in a large unique family with Limb-Girdle Muscular Dystrophy and Paget Disease of Bone [PDF]
, 2000 Virginia Kimonis +7 more
openalex +1 more source
Harnessing FFT for Rapid Community Travel Distance and Step Estimation in Children with DMD [PDF]
arXivAccurate estimation of gait characteristics, including step length, step velocity, and travel distance, is critical for assessing mobility in toddlers, children and teens with Duchenne muscular dystrophy (DMD) and typically developing (TD) peers. This study introduces a novel method leveraging Fast Fourier Transform (FFT)-derived step frequency from a ...
arxiv