Results 261 to 270 of about 1,846,082 (321)

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi   +8 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

open access: yesAnnals 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

Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients

open access: yesAnnals 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

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