Results 31 to 40 of about 11,333 (226)

Motor Neuron Diseases and Neuroprotective Peptides: A Closer Look to Neurons

Frontiers in Aging Neuroscience, 2021
Motor neurons (MNs) are specialized neurons responsible for muscle contraction that specifically degenerate in motor neuron diseases (MNDs), such as amyotrophic lateral sclerosis (ALS), spinal and bulbar muscular atrophy (SBMA), and spinal muscular ...
Emanuela Zuccaro, Emanuela Zuccaro, Emanuela Zuccaro, Diana Piol, Manuela Basso, Maria Pennuto, Maria Pennuto, Maria Pennuto   +7 more
doaj   +1 more source

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
core   +3 more sources

The use of sugammadex in a patient with Kennedy′s disease under general anesthesia

Saudi Journal of Anaesthesia, 2014
Kennedy′s disease (KD), also known as spinal and bulbar muscular atrophy, is a rare, X-linked recessive, neurodegenerative disorder of the lower motor neurons characterized by progressive bulbar and appendicle muscular atrophy. Here we report a case of a
Risa Takeuchi, Hiroshi Hoshijima, Katsushi Doi, Hiroshi Nagasaka   +3 more
doaj   +1 more source

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   +3 more sources

Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

Tremor and Other Hyperkinetic Movements, 2014
Background: X‐linked spinal and bulbar muscular atrophy (SBMA) is a rare adult‐onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation ...
Irene Aicua, Okker Verhagen, Naroa Arenaza, Esther Cubo   +3 more
doaj   +1 more source

A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus

Clinical Neurophysiology Practice, 2017
Objective: This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.
Manabu Inoue, Yasuhiro Kojima, Masutaro Kanda, Koji Tsuzaki, Yoko Shibata, Toshiaki Hamano, Hiroshi Shibasaki   +6 more
doaj   +1 more source

Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

Brain Sciences, 2021
The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and ...
Svenja Brakemeier, Benjamin Stolte, Andreas Thimm, Kathrin Kizina, Andreas Totzeck, Juan Munoz-Rosales, Christoph Kleinschnitz, Tim Hagenacker   +7 more
doaj   +1 more source

Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]

, 2008
Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core   +1 more source

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
openaire   +2 more sources

A mouse model of spinal and bulbar muscular atrophy [PDF]

Human Molecular Genetics, 2002
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease, caused by the expansion of a trinucleotide repeat (TNR) in exon 1 of the androgen receptor (AR) gene. This disorder is characterized by degeneration of motor and sensory neurons, proximal muscular atrophy, and endocrine abnormalities, such as gynecomastia and reduced ...
Patrick, McManamny, Hun S, Chy, David I, Finkelstein, Rebecca G, Craythorn, Peter J, Crack, Ismail, Kola, Surindar S, Cheema, Malcolm K, Horne, Nigel G, Wreford, Moira K, O'Bryan, David M, De Kretser, John R, Morrison   +11 more
openaire   +2 more sources