Results 221 to 230 of about 45,438 (256)
Some of the next articles are maybe not open access.
Bone and Spinal Muscular Atrophy
Bone, 2015Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, leading to progressive denervation atrophy in the involved skeletal muscles. Bone status has been poorly studied. We assessed bone metabolism, bone mineral density (BMD) and fractures in 30 children (age range 15-171 months) affected by SMA types 2 and 3.
Silvia Vai +8 more
openaire +2 more sources
CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
The Lancet, 1980Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis and genetic counselling. Comprehensive clinical and genetic analyses of 240 consecutive index cases from two English centres (The English SMA Study) have enabled some nosological questions to be resolved.
openaire +4 more sources
Spinal Muscular Atrophy in the Neonate
Journal of Obstetric, Gynecologic & Neonatal Nursing, 2004Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leading hereditary cause of infant mortality.
Jennifer A, Markowitz +2 more
openaire +2 more sources
The genetics of spinal muscular atrophies
Current Opinion in Neurology, 2010This article reviews clinical, genetic, and therapeutic advances in spinal muscular atrophies (SMAs), inherited disorders characterized by motor neuron loss and muscle weakness.There has been progress in defining the clinical and genetic features of at least 16 distinct forms of SMA.
Claribel D, Wee +2 more
openaire +2 more sources
Treatment of spinal muscular atrophy
Current Opinion in PediatricsPurpose of review The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.
Pera M. C., Mercuri E.
openaire +3 more sources
Spinal Muscular Atrophy: An Update
Fetal and Pediatric Pathology, 2011Spinal muscular atrophy (SMA) is the most common childhood neurodegenerative disease. We report an infant with SMA type 1 and discuss the recent developments in SMA genetics, pathophysiology, and possible treatment options. Because SMA type 1 remains a fatal illness for which there is not yet a cure, the focus of patient care continues to be ...
Tracy, Chang, Maria, Gieron-Korthals
openaire +2 more sources
Spinal and bulbar muscular atrophy
2018Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor.
openaire +2 more sources
Spinal muscular atrophy in childhood
Seminars in Pediatric Neurology, 1996Diagnosis and classification of spinal muscular atrophy (SMA) in childhood are based on clinical, electrophysiological, and histological studies. The concept of maturational arrest of motoneurons and their targets (muscle cells in SMA type I) is documented by ultrastructural and immunohistochemical data.
openaire +2 more sources
Spinal Muscular Atrophy Diagnostics
Journal of Child Neurology, 2007Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene ( SMN), which exists in 2 nearly identical copies ( SMN1 and SMN2). Exon 7 of SMN1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of SMN2 does not cause spinal muscular atrophy ...
openaire +2 more sources
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
The Application of Clinical Genetics, 2021Thomas W Prior
exaly