Objectives To characterise the pattern and spectrum of involvement on muscle MRI in a large
cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (…

Background: Protein S is a central regulator of coagulation as it critically participates in down-regulation
of both extrinsic and intrinsic pathways of the coagulation cascade. In this review…

Congenital neurological disorders are genetically highly heterogeneous. Rare forms of
hereditary neurological disorders are still difficult to be adequately diagnosed. Pertinent studies, …

Background: The coronavirus disease 2019 (COVID-19) pandemic has caused overwhelming
challenges in healthcare worldwide. During such an outbreak, some needs of high-risk …

Introduction Electrodiagnostic examination is perceived as a painful examination. An accurate
assessment of its discomfort would be valuable to children, their parents, and clinicians. …

TNF–α influences lymphomagenesis by upregulating proinflammatory and antiapoptotic
pathways. In this study, we evaluated the frequency of TNF–α rs1800629 (–308 G>A) …

Aim Assessment of the efficacy of vitamin D replenishment and maintenance doses required
to attain optimal levels in boys with Duchenne muscular dystrophy (DMD). Method 25(OH)-…

Infection with SARS-CoV-2 initiates an immune-hemostatic response. While both systems
are intimately connected and necessary for an efficient immune response to contain the …

Types III and IV spinal muscular atrophy represent a diagnostic challenge due to the great
variability in their presentation. We report a series of eight patients with type III spinal muscular …

Background and Objective: Ketogenic diet (KD) has gained a high popularity recently. It is
extensively used for weight reduction besides its therapeutic use in some diseases. The aim of …