Search Results - "Also, Eva"

Synaptic defects in type I spinal muscular atrophy in human development by Martínez-Hernández, Rebeca, Bernal, Sara, Also-Rallo, Eva, Alías, Laura, Barceló, MaJesús, Hereu, Marta, Esquerda, Josep E, Tizzano, Eduardo F

“…Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disorder caused by alterations in the Survival Motor Neuron 1 gene that triggers…”
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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene by Alías, Laura, Bernal, Sara, Fuentes-Prior, Pablo, Barceló, María Jesus, Also, Eva, Martínez-Hernández, Rebeca, Rodríguez-Alvarez, Francisco J., Martín, Yolanda, Aller, Elena, Grau, Elena, Peciña, Ana, Antiñolo, Guillermo, Galán, Enrique, Rosa, Alberto L., Fernández-Burriel, Miguel, Borrego, Salud, Millán, José M., Hernández-Chico, Concepción, Baiget, Montserrat, Tizzano, Eduardo F.

“…Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene. We have studied the molecular pathology of SMA in 745 unrelated Spanish patients using…”
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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…”
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Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons by Boza-Morán, María G, Martínez-Hernández, Rebeca, Bernal, Sara, Wanisch, Klaus, Also-Rallo, Eva, Le Heron, Anita, Alías, Laura, Denis, Cécile, Girard, Mathilde, Yee, Jiing-Kuan, Tizzano, Eduardo F., Yáñez-Muñoz, Rafael J

“…Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in Survival Motor Neuron 1 ( SMN1 ), leading to degeneration of alpha motor…”
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Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients by Gamez, Josep, Also, Eva, Alias, Laura, Corbera-Bellalta, Marc, Barceló, Maria J, Centeno, Maria, Raguer, Nuria, Gratacós, Margarita, Baiget, Montserrat, Tizzano, Eduardo F

“…Abstract Objective The effect of the number of copies in the SMN1 and SMN2 genes – the most extensively studied susceptibility and modifying genetic factors in…”
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Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings by Bernal, Sara, Also-Rallo, Eva, Martínez-Hernández, Rebeca, Alías, Laura, Rodríguez-Alvarez, Francisco Javier, Millán, José M, Hernández-Chico, Concepción, Baiget, Montserrat, Tizzano, Eduardo F

“…Abstract Spinal muscular atrophy (SMA) is caused by loss or mutations of the survival motor neuron 1 gene ( SMN1 ). Its highly homologous copy, SMN2 , is…”
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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…”
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Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy by Lim, Young-Min, Koh, InSong, Park, Young-Mi, Kim, Jae-Jung, Kim, Dae-Seong, Kim, Hyo-Jin, Baik, Kyu-Heum, Choi, Hye-Yeon, Yang, Gap-Seok, Also-Rallo, Eva, Tizzano, Eduardo F, Gamez, Josep, Park, Kiejung, Yoo, Han-Wook, Lee, Jong-Keuk, Kim, Kwang-Kuk

“…Abstract Precise topographic localization, predominance in males mostly of Asian origin, and existence of some familial cases suggest a genetic background for…”
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Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy by Parra, Juan, Martínez-Hernández, Rebeca, Also-Rallo, Eva, Alias, Laura, Barceló, María Jesús, Amenedo, María, Medina, Carmen, Senosiain, Raquel, Calaf, Joaquim, Baiget, Montserrat, Bernal, Sara, Tizzano, Eduardo F

“…Abstract We studied spinal muscular atrophy (SMA) during human development to identify possible delays or alterations in fetal movements detectable by…”
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Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy by Alías, Laura, Bernal, Sara, Barceló, Maria J, Also-Rallo, Eva, Martínez-Hernández, Rebeca, Rodríguez-Alvarez, Francisco J, Hernández-Chico, Concepción, Baiget, Montserrat, Tizzano, Eduardo F

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by absence of or mutations in the survival motor neuron1 gene (SMN1). All…”
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Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number by Parra, Juan, Alias, Laura, Also-Rallo, Eva, Martínez-Hernández, Rebeca, Senosiain, Raquel, Medina, Carmen, Alejos, Obdulia, Rams, Noelia, Amenedo, María, Ormo, Filomena, Jesús Barceló, María, Calaf, Joaquim, Baiget, Montserrat, Bernal, Sara, Tizzano, Eduardo F.

“…Objective: To study fetal nuchal translucency (NT) thickness as a possible early marker in fetuses at risk for severe spinal muscular atrophy (SMA). To…”
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Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies by Also-Rallo, Eva, Lopez-Quesada, Eva, Urreizti, Roser, Vilaseca, M. Antònia, Lailla, Josep M., Balcells, Susana, Grinberg, Daniel

“…To evaluate the possible relationship between preeclampsia and polymorphisms in the main genes involved in folate-homocysteine metabolism. Case-control study:…”
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Hyperhomocysteinemia during pregnancy as a risk factor of preeclampsia by López-Quesada, Eva, Also-Rayo, Eva, Vilaseca, M Antonia

“…A revision about the role of hyperhomocysteinemia in the development of preeclampsia is presented, which summarises our experience in different biochemical and…”
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