Background ADC (apparent coefficient diffusion) value has been known to predict hemorrhage
transformation (HT) after thrombolysis and recently, after mechanical thrombectomy (MT). …

BACKGROUND AND PURPOSE: In acute ischemic stroke, the negative susceptibility vessel
sign on T2*-weighted images traditionally highlights fibrin-rich clots, which are particularly …

Aims To describe the incidence and identify predictors of sudden death (SD), major conduction
defects and sustained ventricular tachyarrhythmias (VTA) in myotonic dystrophy type 1 (…

Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy
and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of …

Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical
central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing …

Introduction Slowly progressive, genetic neuromuscular diseases (gNMDs) often lead to
important motor deficiencies and functional limitations. The Quality of Life in Genetic …

We studied the ultrastructural characteristics in patients with myofibrillar myopathy (MFM)
and differentiated between MFM-subtypes using electron microscopic (EM) findings. The …

Aims The non-ischaemic forearm exercise test (NIFET) is used as a diagnostic tool for the
screening of patients with exercise intolerance and for the diagnosis of various metabolic …

Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous
group of collagen VI-related muscle disorders. They are caused by mutations in collagen VI (…

We describe a probable recessive X‐linked myopathy characterized by the presence of
vacuolated muscle fibers. Four males and their shared maternal grandfather were affected. …