Results 21 to 30 of about 11,861 (217)

Clinical features of spinal and bulbar muscular atrophy [PDF]

Brain, 2009
Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed ...
Rhodes, Lindsay E., Freeman, Brandi K., Auh, Sungyoung, Kokkinis, Angela D., La Pean, Alison, Chen, Cheunju, Lehky, Tanya J., Shrader, Joseph A., Levy, Ellen W., Harris-Love, Michael, Di Prospero, Nicholas A., Fischbeck, Kenneth H.   +11 more
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Therapeutic approaches to spinal and bulbar muscular atrophy [PDF]

Trends in Pharmacological Sciences, 2010
Spinal and bulbar muscular atrophy is a hereditary motor neuron disease caused by trinucleotide repeat expansion in the androgen receptor gene. The disease mechanism probably involves a toxic gain of function in the mutant protein, because other mutations that cause a loss of androgen receptor function result in a different phenotype and the mutant ...
Srikanth, Ranganathan, Kenneth H, Fischbeck   +1 more
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Mitochondrial abnormalities in spinal and bulbar muscular atrophy [PDF]

Human Molecular Genetics, 2008
Spinal and bulbar muscular atrophy (SBMA) is a motor neuron disease caused by polyglutamine expansion mutation in the androgen receptor (AR). We investigated whether the mutant protein alters mitochondrial function. We found that constitutive and doxycycline-induced expression of the mutant AR in MN-1 and PC12 cells, respectively, are associated with ...
Ranganathan, Srikanth, Harmison, George G., Meyertholen, Kristin, Pennuto, Maria, Burnett, Barrington G., Fischbeck, Kenneth H.   +5 more
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Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]

, 2018
Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018).,, Bertolin, C., Cipolletta, S., Kleinbub, J. R., Marcato, S., Martinelli, I., Palmieri, Arianna, Pegoraro, E, Pick, E., Querin, G., Sorar\uf9, G.   +10 more
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Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy [PDF]

, 2015
Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates ...
Aggarwal, Tanya, Cicardi, Maria Elena, Crippa, Valeria, Cristofani, Riccardo, Galbiati, Mariarita, Giorgetti, Elisa, Lieberman, Andrew P., Meroni, Marco, Messi, Elio, Milioto, Carmelo, Pennuto, Maria, Piccolella, Margherita, Polanco, Maria Josefa, Poletti, Angelo, Rocchi, Anna, Rusmini, Paola   +15 more
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Spinal and Bulbar Muscular Atrophy Overview [PDF]

Journal of Molecular Neuroscience, 2015
Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by an expanded repeat in the androgen receptor gene. The mutant protein is toxic to motor neurons and muscle. The toxicity is ligand-dependent and likely involves aberrant interaction of the mutant androgen receptor with other nuclear factors leading to transcriptional ...
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Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]

, 2019
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J., Merry, Diane E., Pluciennik, Anna   +2 more
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Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 more
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Tremor in motor neuron disease may be central rather than peripheral in origin [PDF]

, 2018
BACKGROUND AND PURPOSE: Motor neuron disease (MND) refers to a spectrum of degenerative diseases affecting motor neurons. Recent clinical and post-mortem observations have revealed considerable variability in the phenotype.
Balint, B, Batla, A, Berardelli, A, Bhatia, K P, Ciocca, M, Latorre, A, Rocchi, L, Rothwell, J C, Sidle, K, Stamelou, M   +9 more
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Swallowing markers in spinal and bulbar muscular atrophy

Annals of Clinical and Translational Neurology, 2017
We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis.A videofluoroscopic swallowing study was ...
Banno, Haruhiko, Katsuno, Masahisa, Suzuki, Keisuke, Tanaka, Seiya, Suga, Noriaki, Hashizume, Atsushi, Mano, Tomoo, Araki, Amane, Watanabe, Hirohisa, Fujimoto, Yasushi, Yamamoto, Masahiko, Sobue, Gen   +11 more
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