Results 321 to 330 of about 321,114 (362)
The importance of better natural history studies for Duchenne muscular dystrophy
Developmental Medicine &Child Neurology, EarlyView.
David J. Birnkrant
wiley +1 more source
A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant
Orthopaedic Surgery, EarlyView.A patient with scoliosis and thoracic asymmetry was diagnosed with spondylocostal dysplasia; a heterozygous missense FLNA variant was revealed by next‐generation sequencing. ABSTRACT Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities.
Haoyu Cai +7 more
wiley +1 more source
Is There a Role of Photoacoustic Imaging in Sports Medicine: Evidence Today
Orthopaedic Surgery, EarlyView.Applications of photoacoustic technology in various tissues in sports medicine. ABSTRACT Diagnostic imaging in sports medicine includes traditional imaging modalities such as x‐ray, computed tomography (CT), and magnetic resonance imaging (MRI). Despite having certain advantages, these imaging techniques often have lower sensitivity and specificity ...
Chenggong Ma +4 more
wiley +1 more source
Bibliometric Analysis of the 50 Most Cited Publications in Epidermolysis Bullosa
Pediatric Dermatology, EarlyView.ABSTRACT Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by extreme skin fragility, leading to recurrent blistering and significant impacts on patients' quality of life. A bibliometric analysis of the 50 most‐cited EB articles from the past six decades reveals that the majority of research focuses on understanding EB ...
Evelyn F. Fagan +4 more
wiley +1 more source
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Current Opinion in Neurology, 2002
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
openaire +2 more sources
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI ...
Ichizo, Nishino, Eijiro, Ozawa
openaire +2 more sources
2012
The muscular dystrophies are a group of inherited disorders that are clinically and genetically distinct. Genetic counselling is an essential part of the management of these patients. Molecular genetic techniques, in particular positional cloning but also now candidate gene analysis, have allowed the beginning of an understanding of the molecular ...
Kate Bushby, Una-Marie Sheerin
openaire +3 more sources
The muscular dystrophies are a group of inherited disorders that are clinically and genetically distinct. Genetic counselling is an essential part of the management of these patients. Molecular genetic techniques, in particular positional cloning but also now candidate gene analysis, have allowed the beginning of an understanding of the molecular ...
Kate Bushby, Una-Marie Sheerin
openaire +3 more sources
Clinics in Chest Medicine, 2018
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
openaire +2 more sources
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and ...
John C, Carter +3 more
openaire +2 more sources
The Indian Journal of Pediatrics, 2000
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
openaire +3 more sources
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than ...
openaire +3 more sources
CONTINUUM: Lifelong Learning in Neurology, 2013
With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates.
openaire +2 more sources
With transition to the genetic era, the number of muscular dystrophies has grown significantly, but so too has our understanding of their pathogenic underpinnings. Clinical features associated with each muscular dystrophy still guide us to the diagnosis. However, improved diagnostic abilities refine and expand phenotypic and genotypic correlates.
openaire +2 more sources
Facioscapulohumeral Muscular Dystrophy
CONTINUUM: Lifelong Learning in Neurology, 2022ABSTRACT PURPOSE OF REVIEW This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.
Mul, K., Mul, K.
openaire +3 more sources