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Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia
TLDR
FUS gene mutations are not an uncommon cause in patients with FALS from diverse genetic backgrounds, and have a prevalence of 5.6% in non-SOD1 and non-TARDBP FALS, and ∼4.79% in all FALS.
Mammalian Motor Units: Physiological-Histochemical Correlation in Three Types in Cat Gastrocnemius
The correlation among a variety of physiological properties and the histochemical characteristics of muscle fibers belonging to single motor units in a mixed mammalian muscle is directly
De novo neuromuscular junction formation on human muscle fibres cultured in monolayer and innervated by foetal rat spinal cord: Ultrastructural and ultrastructural-cytochemical studies
SummaryUltrastructural features of neuromuscular junction formation and transverse tubule development were studied utilizing a newly developed model in which human muscle fibres cultured in monolayer
Transfer of beta-amyloid precursor protein gene using adenovirus vector causes mitochondrial abnormalities in cultured normal human muscle.
TLDR
It is demonstrated that adenovirus-mediated beta APP overproduction can induce mitochondrial abnormalities, and the data suggest that excessive beta APP may be responsible for mitochondrial and COX abnormalities in IBM muscle and perhaps AD brain.
Inclusion-body myositis
TLDR
It is proposed that the identified abnormal accumulation, misfolding, and aggregation of proteins, perhaps provoked by the aging milieu and aggravated by the oxidative stress, lead to the s-IBM-specific vacuolar degeneration and atrophy of muscle fibers.
Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis.
TLDR
Evidence is given supporting the hypothesis that overexpression of beta-amyloid precursor protein within abnormal muscle fibers is an early upstream event causing the pathogenic cascade and the concept that muscle aging and oxidative stress are important factors contributing to the s-IBM-specific muscle fiber destruction.
The histographic analysis of human muscle biopsies with regard to fiber types
TLDR
To present the results by classifying the patients under disease categories would be a confusing and cumbersome approach, so the patients are presented according to the histographic appearance of their biopsies.
Slow saccades in spinocerebellar degeneration.
TLDR
A neural network was hypothesized that made saccades by driving the eyes to an orbital position rather than preprogramming a distance for movement, and computer simulation of this model produced both realistically appearing normal saccade and, when appropriately "lesioned" to simulate a loss of saccadic "burst" neurons in the pontine reticular formation, slow saccading that could be modified in flight.
Human muscle cultured in monolayer and cocultured with fetal rat spinal cord: importance of dorsal root ganglia for achieving successful functional innervation
TLDR
It is demonstrated that adult human muscle cultured in monolayer can be innervated by fetal rat spinal cord and that DRG are essential for achieving functional innervation in that coculture system.
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