Search Results - "Caselles, Lidia"

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation by Martínez-Hernández, Rebeca, Soler-Botija, Carolina, Also, Eva, Alias, Laura, Caselles, Lidia, Gich, Ignasi, Bernal, Sara, Tizzano, Eduardo F

“…The loss and degeneration of spinal cord motor neurons result in muscle denervation in spinal muscular atrophy (SMA), but whether there are primary…”
Get full text

Implication of Fetal SMN2 Expression in Type I SMA Pathogenesis: Protection or Pathological Gain of Function? by Soler-Botija, Carolina, Cuscó, Ivón, Caselles, Lídia, López, Eva, Baiget, Montserrat, Tizzano, Eduardo F

“…Spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron gene 1 (SMN1). The SMN2 gene, which is the highly homologous SMN1 copy that…”
Get full text

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability by ALSO-RALLO, Eva, ALIAS, Laura, MARTINEZ-HERNANDEZ, Rebeca, CASELLES, Lidia, BARCELO, Maria J, BAIGET, Montserrat, BERNAL, Sara, TIZZANO, Eduardo F

“…Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by mutations in the SMN1 gene. The homologous copy (SMN2) is always present in SMA…”
Get full text

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis by Barceló, María Jesús, Alias, Laura, Caselles, Lídia, Robles, Yolanda, Baiget, Montserrat, Tizzano, Eduardo F

“…We present the results of carrier studies in 33 relatives of the paternal branch of a spinal muscular atrophy patient with homozygous absence of the SMN1 gene…”
Get full text