Background Mutations in the gene ATP1A3 have recently been identified to be prevalent in
patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients …

Background: In patients with symptoms suggestive of cystic fibrosis (CF) and intermediate
sweat chloride values (30–60 mmol/l), extensive CFTR gene mutation analysis and nasal …

Background: The purpose of this systematic review was to summarize the different dysphagia
screening and evaluation tools, and to identify their measurement properties in adults with …

Aim Dysphagia is frequent in paediatric patients with neuromuscular diseases ( pNMD ). Its
detection is important for initiating early diagnosis and treatment as well as for minimizing …

The London Cystic Fibrosis Collaboration (LCFC) has prospectively followed a clinically
diagnosed cohort of infants with cystic fibrosis (CF) born in South East England since 1999 [1–4]…

The Pediatric Sleep Questionnaire described by Chervin et al. (Sleep Medicine, 2000, 1, 21–32)
was originally validated for children with obstructive sleep apnoea syndrome but …

Introduction/Aims Oropharyngeal dysphagia is common in patients with neuromuscular
diseases (NMDs). Its early recognition is vital for proper management. We tested a large cohort …

Purpose: Aquaporin 7 (AQP7) belongs to the aquaglyceroporin family, which transports
glycerol and water. AQP7-deficient mice develop obesity, insulin resistance, and …

Oropharyngeal dysphagia is frequently under-reported and early detection may lead to
adapt strategies of rehabilitation and management decisions. The Sydney Swallow …

Platelet function in primary hemostasis involves the secretion of granules upon activation,
providing the localized delivery of effector proteins at sites of vascular injury. The sequential …