Laura Alías

Universitat Autònoma de Barcelona ES

0000-0003-2193-6185

Publications

1,553

Citations

H-Index

i10-Index

2yr Mean Cite

Cite/Paper

Data combined from OpenAlex . OA = OpenAlex S2 = Semantic Scholar

Verify on Google Scholar

Publication & Citation Trends

Most Cited Works

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 +9 more

Neuromuscular Disorders 2018

491

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, M. J. Barceló, E. Also +15 more

Human Genetics 2008

166

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

Rebeca Martínez‐Hernández, Carolina Soler‐Botija, E. Also, Laura Alías, Lídia Caselles +3 more

Journal of Neuropathology & Experimental Neurology 2009

102

Synaptic defects in type I spinal muscular atrophy in human development

Rebeca Martínez‐Hernández, Sara Bernal, Eva Also‐Rallo, Laura Alías, MaJesús Barceló +3 more

The Journal of Pathology 2012

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

Sara Bernal, Laura Alías, M. J. Barcelo, Eva Also‐Rallo, Rebeca Martínez‐Hernández +11 more

Journal of Medical Genetics 2010

Publications

37 total

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

Laura Campello Blasco, Ida Paramonov, Jordi Leno-Colorado, Sara Bernal, Laura Alías et al. - Human Mutation, 2021

Cited by 39 OpenAlex

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

Ivon Cuscó, Sara Bernal, Laura Campello Blasco, Maite Calucho, Laura Alías et al. - Neurology Genetics, 2020

Cited by 56 OpenAlex

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 et al. - Neuromuscular Disorders, 2018

Cited by 491 OpenAlex

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

Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March et al. - European Journal of Human Genetics, 2018

Cited by 37 OpenAlex

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

Maria Gabriela Boza-Morán, Rebeca Martínez‐Hernández, Sara Bernal, Klaus Wanisch, Eva Also‐Rallo et al. - Scientific Reports, 2015

Cited by 38 OpenAlex

Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy

Rebeca Martínez‐Hernández, Sara Bernal, Laura Alías, Eduardo F. Tizzano - Journal of Neuropathology & Experimental Neurology, 2014

Cited by 45 OpenAlex

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the <scp>SMN1</scp> gene

Laura Alías, M. J. Barceló, Sara Bernal, Rebeca Martínez‐Hernández, Eva Also‐Rallo et al. - Clinical Genetics, 2013

Cited by 34 OpenAlex

Synaptic defects in type I spinal muscular atrophy in human development

Rebeca Martínez‐Hernández, Sara Bernal, Eva Also‐Rallo, Laura Alías, MaJesús Barceló et al. - The Journal of Pathology, 2012

Cited by 89 OpenAlex

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Sara Bernal, Eva Also‐Rallo, Rebeca Martínez‐Hernández, Laura Alías, Francisco Javier Álvarez Rodríguez et al. - Neuromuscular Disorders, 2011

Cited by 66 OpenAlex

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, M. J. Barceló, Eva Also‐Rallo, Rebeca Martínez‐Hernández et al. - Genetic Testing and Molecular Biomarkers, 2011

Cited by 33 OpenAlex

Research Topics

Neurogenetic and Muscular Disorders Research (29) RNA modifications and cancer (20) Congenital Anomalies and Fetal Surgery (14) Muscle Physiology and Disorders (3) Amyotrophic Lateral Sclerosis Research (2)

Frequent Co-Authors

Eduardo F. Tizzano

15 joint publications

Sara Bernal

14 joint publications

Rebeca Martínez‐Hernández

10 joint publications

Eva Also‐Rallo

7 joint publications

Pablo Fuentes‐Prior

6 joint publications

José M. Millán

5 joint publications

Affiliations

Universitat Autònoma de Barcelona

ES 2023 - 2023

Instituto de Salud Carlos III

ES 2023 - 2009

Hospital de Sant Pau

ES 2023 - 2004

Centre for Biomedical Network Research on Rare Diseases

ES 2023 - 2007

Centro de Investigación Biomédica en Red

ES 2022 - 2014

External Profiles

OpenAlex Profile Search Semantic Scholar ORCID Profile Google Scholar

Share Profile

Back to Researchers

Laura Alías

Publication & Citation Trends

Most Cited Works

Publications

Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients PDF

Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy PDF

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

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

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

Abnormalities in Early Markers of Muscle Involvement Support a Delay in Myogenesis in Spinal Muscular Atrophy

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the <i><scp>SMN1</scp></i> gene

Synaptic defects in type I spinal muscular atrophy in human development

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

Accuracy of Marker Analysis, Quantitative Real-Time Polymerase Chain Reaction, and Multiple Ligation-Dependent Probe Amplification to Determine <i>SMN2</i> Copy Number in Patients with Spinal Muscular Atrophy

Research Topics

Frequent Co-Authors

Affiliations

External Profiles

Share Profile

Laura Alías

Publication & Citation Trends

Most Cited Works

Publications

Research Topics

Frequent Co-Authors

Affiliations

External Profiles

Share Profile

Journal Details

Join JournalsHub

Welcome Back