Results 171 to 180 of about 11,861 (217)

A Two-part Placebo-controlled Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy (SBMA)

Novartis
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Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice.

Dis Model Mech, 2020
Gray AL, Annan L, Dick JRT, La Spada AR, Hanna MG, Greensmith L, Malik B.   +6 more
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مروری بر سندرم Brown-vialetto-van laereو تشخیص های افتراقی آن [PDF]

, 2011
سلیمی پور, هومان, نائینی, رزیتا, نفیسی, شهریار, یادگاری, سمیرا   +3 more
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Brugada syndrome in spinal and bulbar muscular atrophy

Brugada syndrome in spinal and bulbar muscular atrophy
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Metabolic alterations in spinal and bulbar muscular atrophy

Revue Neurologique, 2020
Spinal 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., Vitturi, N., Tresso, S., Sorarù, G.   +3 more
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Brugada syndrome in spinal and bulbar muscular atrophy

Neurology, 2014
The 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, Masahisa, Katsuno, Keisuke, Suzuki, Haruhiko, Banno, Noriaki, Suga, Atsushi, Hashizume, Tomoo, Mano, Yasuhiro, Hijikata, Hideaki, Nakatsuji, Hirohisa, Watanabe, Masahiko, Yamamoto, Takeru, Makiyama, Seiko, Ohno, Megumi, Fukuyama, Shin-Ichiro, Morimoto, Minoru, Horie, Gen, Sobue   +16 more
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X-linked spinal and bulbar muscular atrophy without proximal atrophy

Clinical Neurology and Neurosurgery, 2002
We 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, BOZ, CAVİT, Sahin, Nilüfer, VELİOĞLU, SİBEL, KALAY, ERSAN   +4 more
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Spinal and bulbar muscular atrophy

2018
Spinal 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, 2001
Studies 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, 2013
Spinal 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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