EXPRESSION OF VESICLE-ASSOCIATED MEMBRANE-PROTEIN-ASSOCIATED PROTEIN B CLEAVAGE PRODUCTS IN PERIPHERAL BLOOD LEUKOCYTES AND CEREBROSPINAL FLUID OF PATIENTS WITH SPORADIC AMYOTROPHIC LATERAL SCLEROSIS [PDF]
, 2014 Cascio, C. +7 more
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Análisis genético y molecular de las enfermedades neurológicas hereditarias [PDF]
, 1996 Palau, Francesc
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Brugada syndrome in spinal and bulbar muscular atrophy
Brugada syndrome in spinal and bulbar muscular atrophyopenaire
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Metabolic alterations in spinal and bulbar muscular atrophy
Revue Neurologique, 2020Spinal and bulbar muscular atrophy (SBMA) is a rare, X-linked neuromuscular disease characterised by lower motor neurons degeneration, slowly progressive myopathy and multisystem involvement. SBMA is caused by trinucleotide repeat expansion in the first exon of the androgen receptor (AR) gene on chromosome X that encodes a polyglutamine (polyQ) tract ...
Francini-Pesenti, F. +3 more
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Brugada syndrome in spinal and bulbar muscular atrophy
Neurology, 2014The aim of this study was to clarify myocardial involvement and its clinical implications in subjects with spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease affecting both neuronal and nonneuronal tissues.Two independent cardiologists evaluated ECGs from a total of 144 consecutive subjects with SBMA.
Amane, Araki +16 more
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X-linked spinal and bulbar muscular atrophy without proximal atrophy
Clinical Neurology and Neurosurgery, 2002We report on a case of genetically proven X-linked spinal and bulbar muscular atrophy (X-SBMA) with prominent distal muscle atrophy and without proximal muscle involvement. The patient was a 35-year-old man who had a history of slow progressive hand and distal leg muscle weakness and wasting for 10 years.
Ozmenoglu, Mehmet +4 more
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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.
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Molecular pathogenesis of spinal and bulbar muscular atrophy
Brain Research Bulletin, 2001Studies of the molecular pathogenesis of spinal and bulbar muscular atrophy, as well as of the other polyglutamine repeat diseases, has led to an understanding of the role of protein accumulation in disease pathogenesis. Aggregation of the expanded repeat androgen receptor (AR), rather than playing a pathogenic role, likely reflects the insoluble ...
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New Routes to Therapy for Spinal and Bulbar Muscular Atrophy
Journal of Molecular Neuroscience, 2013Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a genetically inherited neuromuscular disorder characterized by loss of lower motor neurons in the brainstem and spinal cord and skeletal muscle fasciculation, weakness, and atrophy.
Rocchi, Anna, Pennuto, Maria
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Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)
Progress in Neurobiology, 2012Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by slowly progressive muscle weakness and atrophy. During the last two decades, basic and clinical research has provided important insights into the disease phenotype and pathophysiology. The cause of SBMA is the expansion of a trinucleotide CAG repeat encoding
Masahisa, Katsuno +6 more
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