Results 61 to 70 of about 21,194 (199)
Voice Fundamental Frequency Variation and Statin Therapy
Clinical Otolaryngology, EarlyView.ABSTRACT Objectives Statins are considered a first‐line treatment for dyslipidaemia, being the most frequently prescribed medicine worldwide. However, statin therapy has been associated with several adverse effects, including statin‐associated myopathy, which may manifest with symptoms such as myalgia, muscle stiffness, and cramps.
Luca Francesco Parata +5 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2017 Loss-of-function mutations in the Fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) and other forms of congenital muscular dystrophy-dystroglycanopathy that are associated with glycosylation defects in the α ...
Charles Harvey Vannoy +4 more
doaj +1 more source
Developmental Medicine &Child Neurology, EarlyView.Aim To examine longitudinal changes in speech and gross motor function in children with cerebral palsy (CP) between 4 years and 14 years of age using the Viking Speech Scale (VSS) and the Gross Motor Function Classification System (GMFCS). Method In this longitudinal observational study, 44 children (26 male, 18 female) with CP were assessed at ages 4 ...
Sydney A. Jensen, Katherine C. Hustad
wiley +1 more source
CONGENITAL MUSCULAR DYSTROPHIES [PDF]
Neuromuscular Disorders, 2021 J. Reinhard, S. Lin, M. Rüegg
+6 more sources
The Spinal Muscular Atrophy Functional Classification System
Developmental Medicine &Child Neurology, EarlyView.The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard +5 more
wiley +1 more source
The Application of Clinical Genetics, 2019 Quynh Nguyen,*,1 Kenji Rowel Q Lim,*,1 Toshifumi Yokota,1,21Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada; 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada,
Nguyen Q, Lim KRQ, Yokota T
doaj
Developmental Medicine &Child Neurology, EarlyView.Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo +8 more
wiley +1 more source
Model Organisms in the Fight against Muscular Dystrophy: Lessons from Drosophila and Zebrafish
Molecules, 2015 Muscular dystrophies (MD) are a heterogeneous group of genetic disorders that cause muscle weakness, abnormal contractions and muscle wasting, often leading to premature death.
Emilie Plantié +3 more
doaj +1 more source
Journal of Internal Medicine, EarlyView.Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple +25 more
wiley +1 more source
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source