Laura Alias

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 18 publications

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

Journal: Journal of neuromuscular diseases

Published: April 11, 2023

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.

Journal: Frontiers in genetics

Published: July 20, 2022

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Journal: International journal of molecular sciences

Published: June 22, 2022

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.

Journal: International journal of molecular sciences

Published: August 04, 2021

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Journal: Human mutation

Published: September 04, 2020

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.

Journal: Neurology. Genetics

Published: June 23, 2020

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Journal: Muscle & nerve

Published: July 15, 2018

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.

Journal: European journal of human genetics : EJHG

Published: September 05, 2017

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Journal: Neuromuscular disorders : NMD

Published: June 24, 2017

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.

Journal: BMC medical genetics

Published: February 15, 2017

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: February 11, 2016

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.

Journal: Scientific reports

Published: December 23, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026