Buscar
Mostrando ítems 11-20 de 99
Nuclear subcompartments: an overview
(Wiley-Blackwell, 2017)
The advance in biochemical and microscopy techniques has revealed the complexity and intricate nucleoplasm structure. Several subcompartments were identified in nucleus and the importance of these subcompartments in processes ...
Neurophysiological findings of the late-onset, dominant, proximal spinal muscular atrophies with dysautonomia because of the VAPB PR056SER mutation
(LIPPINCOTT WILLIAMS & WILKINS, 2008)
The vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) Pro56Ser Mutation has been identified in Brazilian families showing various motor neuron syndromes. However, the neurophysiological ...
Caracterización funcional de pacientes con Atrofia Muscular Espinal valorados en instituto de rehabilitación de Bogotá, Colombia, entre los años 2009 a 2019
(Universidad Nacional de Colombia - Sede Bogotá, 2020)
La atrofia muscular espinal (AME) es una enfermedad neuromuscular que afecta la neurona motora del asta anterior de la médula espinal y causa destrucción progresiva de la misma, llevando a debilidad y atrofia muscular, que ...
Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander): evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool
(Academia Brasileira de Neurologia - ABNEURO, 1996-09-01)
We added hydrotherapy to 50 patients with spinal muscular atrophy (SMA) who were being treated with individual conventional physiotherapy. Hydrotherapy was performed at an approximate temperature of 30 degrees Celsius, ...
Management of neuromuscular diseases and spinal muscular atrophy in Latin America
(Nature Publishing Group, 2017-09)
Latin America (LA) has a population of ∼645 million people distributed over 33 countries with marked political, cultural and economic differences. In LA, patients with inherited neuromuscular diseases (NMDs) often do not ...
Genotype–phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina
(Elsevier, 2016-11)
Background/Purpose: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, considered one of the leading causes of infant mortality. It is caused by mutations in the SMN1 gene. A highly homologous ...