Results 1 to 10 of about 11,842 (200)

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]

, 2017
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert, Borgia, Doriana, Gomes Pereira, Marcelo, Lieberman, Andrew P., Maino, Eleonora, Malena, Adriana, Marchioretti, Caterina, Milioto, Carmelo, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Plebani, Mario, Polanco, Maria J., Sambataro, Fabio, Sambataro, Fabio, Sorar, Gianni, Soraru', Gianni, Venturini, Roberta, Vergani, Lodovica   +18 more
core   +5 more sources

Spinal and bulbar muscular atrophy: pathogenesis and clinical management [PDF]

Oral Diseases, 2013
Spinal and bulbar muscular atrophy, or Kennedy's disease, is an X‐linked motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor. The disease is characterised by weakness, atrophy and fasciculations in the limb and bulbar muscles.
Christopher Grunseich, Carlo Rinaldi, K. H. Fischbeck   +2 more
openalex   +3 more sources

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]

, 2016
Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo, Bello, Luca, Bertolin, Cinzia, Briani, Chiara, Caretta, Nicola, Corrado, Domenico, da Re, Elisa, Ermani, Mario, Ferlin, Alberto, Foresta, Carlo, Gaiani, Alessandra, Galasso, Giuliana, Iafrate, Massimo, Mandrioli, Jessica, Mariotti, Caterina, Massa, Roberto, Mazzini, Letizia, Palmieri, Arianna, Pareyson, Davide, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Petrucci, Antonio, Polo, Alberto, Querin, Giorgia, Ricci, Giulia, Romito, Silvia, Sagnelli, Anna, Sartori, Leonardo, Scarpelli, Mauro, Semplicini, Claudio, Siciliano, Gabriele, Silani, Vincenzo, Silvano, Maria, Soraru', Gianni, Tonin, Paola, Volpe, Marco, Zara, Gabriella   +37 more
core   +3 more sources

The role of ubiquitination in spinal and bulbar muscular atrophy. [PDF]

Front Mol Neurosci, 2022
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene. The AR is an important transcriptional regulator of the nuclear hormone receptor superfamily; its levels are regulated in many ways including by ubiquitin ...
Sengupta M, Pluciennik A, Merry DE.
europepmc   +4 more sources

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy. [PDF]

Front Neurol, 2020
Background: Spinal and bulbar muscular atrophy (SBMA) or Kennedy disease [OMIM: 313200] is a rare X-linked neuromuscular disease. Patients commonly present with muscle cramps, tremors, leg weakness, dysarthria and dysphagia.Methods: We deeply phenotyped and evaluated the possible extent of affected systems in all patients with SBMA in Latvia (n = 5 ...
Millere E, Rots D, Glazere I, Taurina G, Kurjane N, Priedite V, Gailite L, Blennow K, Zetterberg H, Kenina V.   +9 more
europepmc   +6 more sources

Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy. [PDF]

Cell Death Dis, 2022
Ogura Y, Sahashi K, Hirunagi T, Iida M, Miyata T, Katsuno M.   +5 more
europepmc   +3 more sources

Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy. [PDF]

Front Mol Neurosci, 2022
Gogia N, Ni L, Olmos V, Haidery F, Luttik K, Lim J.   +5 more
europepmc   +3 more sources

Kennedy's disease (bulbar and spinal muscular atrophy) [PDF]

Neurologie pro praxi, 2016
Petr Ridzoň
openalex   +2 more sources

Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy. [PDF]

J Clin Invest, 2021
Pluciennik A, Liu Y, Molotsky E, Marsh GB, Ranxhi B, Arnold FJ, St-Cyr S, Davidson B, Pourshafie N, Lieberman AP, Gu W, Todi SV, Merry DE.   +12 more
europepmc   +3 more sources

J wave syndromes in patients with spinal and bulbar muscular atrophy. [PDF]

J Neurol, 2022
Steinmetz K, Rudic B, Borggrefe M, Müller K, Siebert R, Rottbauer W, Ludolph A, Buckert D, Rosenbohm A.   +8 more
europepmc   +3 more sources