نتایج جستجو برای: spinal muscular atrophy
تعداد نتایج: 176516 فیلتر نتایج به سال:
Background: Spinal muscular atrophy (SMA) is a disorder caused by homozygous loss of function the SMN1 gene. This gene produces survival motor neuron (SMN) protein, which important in homeostasis. The SMN2 has homology with SMN1, but only expresses 10% functional full-length SMN protein. treatment available Brazilian public health system Nusinersen, an antisense oligonucleotide that increases p...
Spinal muscular atrophy, characterized by selective loss of lower motor neurons, is an incurable genetic neurological disease leading to infant mortality. We previously showed that primary neural stem cells derived from spinal cord can ameliorate the spinal muscular atrophy phenotype in mice, but this primary source has limited translational value. Here, we illustrate that pluripotent stem cell...
Hereditary canine spinal muscular atrophy (HCSMA) is an autosomal dominant motor neuron disease that is similar in pathology and clinical presentation to various forms of human motor neuron disease. We have tested the hypothesis that the canine survival motor neuron (SMN) gene is responsible for HCSMA by genetic and molecular analysis of a colony of mixed breed dogs, all descended from a single...
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