Publications by authors named "Laura Alias"

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Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
Selena Trifunov, Daniel Natera-de Benito, Laura Carrera-García, Anna Codina, Jesica Expósito-Escudero, Laura Alias

J Neuromuscul Dis· January 2024

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Case report: pathogenic variant in causes Wolfram-like syndrome debuting with congenital bilateral deafness.
Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda

Front Genet· October 2022

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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias

Int J Mol Sci· July 2022

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High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
Sara Bernal, Irene Pelaez, Laura Alias, Manel Baena, Juan A De Pablo-Moreno

Int J Mol Sci· September 2021

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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Laura Blasco-Pérez, Ida Paramonov, Jordi Leno, Sara Bernal, Laura Alias

Hum Mutat· June 2021

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Practical guidelines to manage discordant situations of copy number in patients with spinal muscular atrophy.
Ivon Cuscó, Sara Bernal, Laura Blasco-Pérez, Maite Calucho, Laura Alias

Neurol Genet· December 2020

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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Miguel M Pinto, Soledad Monges, Edoardo Malfatti, Fabiana Lubieniecki, Xavière Lornage, Laura Alias

Muscle Nerve· January 2019

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Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.
Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March

Eur J Hum Genet· October 2018

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Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.
Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez

BMC Med Genet· May 2018

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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Maite Calucho, Sara Bernal, Laura Alías, Francesca March, Adoración Venceslá

Neuromuscul Disord· March 2018

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Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
Sofía Medrano, Soledad Monges, Luis Pablo Gravina, Laura Alías, Julieta Mozzoni

Eur J Paediatr Neurol· November 2016

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Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.
María G Boza-Morán, Rebeca Martínez-Hernández, Sara Bernal, Klaus Wanisch, Eva Also-Rallo

Sci Rep· June 2015

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Analysis of the C9orf72 gene in spinal muscular atrophy patients.
Laura Alías, Sara Bernal, Maria J Barceló, Rebeca Martínez-Hernández, Elisabeth Martínez

Amyotroph Lateral Scler Frontotemporal Degener· December 2014

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Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.
Rebeca Martínez-Hernández, Sara Bernal, Laura Alias, Eduardo F Tizzano

J Neuropathol Exp Neurol· June 2014

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Synaptic defects in type I spinal muscular atrophy in human development.
Rebeca Martínez-Hernández, Sara Bernal, Eva Also-Rallo, Laura Alías, María Jesús Barceló

J Pathol· January 2013

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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.
Juan Parra, Laura Alias, Eva Also-Rallo, Rebeca Martínez-Hernández, Raquel Senosiain

J Matern Fetal Neonatal Med· August 2012

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Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
Eva Also-Rallo, Laura Alías, Rebeca Martínez-Hernández, Lidia Caselles, María J Barceló

Eur J Hum Genet· October 2011

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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.
Laura Alías, Sara Bernal, Maria J Barceló, Eva Also-Rallo, Rebeca Martínez-Hernández

Genet Test Mol Biomarkers· September 2011

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Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
Sara Bernal, Eva Also-Rallo, Rebeca Martínez-Hernández, Laura Alías, Francisco Javier Rodríguez-Alvarez

Neuromuscul Disord· June 2011

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Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.
Juan Parra, Rebeca Martínez-Hernández, Eva Also-Rallo, Laura Alias, María Jesús Barceló

Neuromuscul Disord· February 2011

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Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.
Anna Febrer, Natalia Rodriguez, Laura Alias, Eduardo Tizzano

J Rehabil Med· March 2010

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The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.
Rebeca Martínez-Hernández, Carolina Soler-Botija, Eva Also, Laura Alias, Lidia Caselles

J Neuropathol Exp Neurol· May 2009

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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.
Laura Alías, Sara Bernal, Pablo Fuentes-Prior, María Jesus Barceló, Eva Also

Hum Genet· February 2009

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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.
Josep Gamez, Eva Also, Laura Alias, Marc Corbera-Bellalta, Maria J Barceló

Clin Neurol Neurosurg· December 2007

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Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.
Laura Alias, Maria J Barceló, Ignasi Gich, Marta Estapé, Juan Parra

Eur J Hum Genet· October 2007

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