Results 101 to 110 of about 19,684 (296)
Muscular dystrophies: key elements for everyday diagnosis and management
Cardiogenetics, 2013 Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino +2 more
doaj +1 more source
Inherited myopathies and muscular dystrophies
, 2008 The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction.
Ryan, Monique M. +2 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Hereditary muscular dystrophies and the heart
, 2010 Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial fibres may be affected by the dystrophic process.
Crijns, HJGM +18 more
core +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top
, 2007 During the last 10 years several muscular dystrophies within the group of distal myopathies have been clarified as to the molecular genetic cause of the disease.
Udd, Bjarne, Bjarne Udd
core +1 more source
Nail Disorders in Systemic Conditions
JEADV Clinical Practice, EarlyView.ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley +1 more source
Brain MRI in Congenital Muscular Dystrophies
Pediatric Neurology Briefs, 1997 Magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) complicated by cerebral anomalies were analysed from data collected at several Departments of Child Neurology, The Netherlands: Free University Hospital ...
J Gordon Millichap
doaj +1 more source
Facioscapulohumeral muscular dystrophy
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007 Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both ...
Maarel, S.M. van der +2 more
openaire +3 more sources
, 2016 With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M +8 more
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