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L. Alías · SciRah

Researcher profile · Semantic Scholar

L. Alías

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L. Alías — researcher profile on SciRah

h-index: 19
Works: 35
Citations: 1,480

Most-cited papers

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, S. Bernal, L. Alías, Francesc March +10 more
2018Neuromuscular Disorders443 citations
Semantic Scholar
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
L. Alías, S. Bernal, P. Fuentes-Prior, M. Barceló +16 more
2009Human Genetics175 citations
Semantic Scholar
The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation
R. Martínez-Hernández, C. Soler-Botija, E. Also, L. Alías +4 more
2009Journal of Neuropathology and Experimental Neurology103 citations Open access
Semantic Scholar
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
Serafín Bernal, L. Alías, M. Barceló, E. Also-Rallo +12 more
2010Journal of Medical Genetics91 citations
Semantic Scholar
Synaptic defects in type I spinal muscular atrophy in human development
R. Martínez-Hernández, S. Bernal, E. Also-Rallo, L. Alías +4 more
2013Journal of Pathology89 citations
Semantic Scholar
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
S. Bernal, E. Also-Rallo, R. Martínez-Hernández, L. Alías +5 more
2011Neuromuscular Disorders68 citations
Semantic Scholar
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
I. Cuscó, S. Bernal, L. Blasco-Pérez, Maite Calucho +3 more
2020Neurology: Genetics49 citations Open access
Semantic Scholar
Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.
R. Martínez-Hernández, S. Bernal, L. Alías, E. Tizzano
2014Journal of Neuropathology and Experimental Neurology42 citations
Semantic Scholar
Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons
M. Boza-Morán, R. Martínez-Hernández, S. Bernal, K. Wanisch +8 more
2015Scientific Reports39 citations Open access
Semantic Scholar
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
L. Blasco-Pérez, Ida Paramonov, Jordi Leno, S. Bernal +4 more
2021Human Mutation38 citations Open access
Semantic Scholar
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
L. Alías, S. Bernal, M. Barceló, E. Also-Rallo +5 more
2011Genetic Testing and Molecular Biomarkers38 citations
Semantic Scholar
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling
L. Alías, S. Bernal, Maite Calucho, E. Martínez +6 more
2018European Journal of Human Genetics37 citations Open access
Semantic Scholar
Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene
L. Alías, M. Barceló, Serafín Bernal, R. Martínez-Hernández +6 more
2014Clinical Genetics32 citations
Semantic Scholar
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability
E. Also-Rallo, L. Alías, R. Martínez-Hernández, L. Caselles +4 more
2011European Journal of Human Genetics30 citations Open access
Semantic Scholar
Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.
A. Febrer, N. Rodríguez, L. Alías, E. Tizzano
2010Journal of Rehabilitation Medicine30 citations Open access
Semantic Scholar
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
S. Medrano, S. Monges, L. Gravina, L. Alías +6 more
2016European journal of paediatric neurology26 citations Open access
Semantic Scholar
Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.
J. Parra, R. Martínez-Hernández, E. Also-Rallo, L. Alías +8 more
2011Neuromuscular Disorders22 citations
Semantic Scholar
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
L. Blasco-Pérez, M. Costa-Roger, J. Leno-Colorado, S. Bernal +20 more
2022International Journal of Molecular Sciences20 citations Open access
Semantic Scholar
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
L. Alías, P. Gallano, D. Moreno, Ramón Pujol +4 more
2004Neuromuscular Disorders19 citations
Semantic Scholar
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies
S. Bernal, I. Peláez, L. Alías, M. Baena +6 more
2021International Journal of Molecular Sciences16 citations Open access
Semantic Scholar
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number
J. Parra, L. Alías, E. Also-Rallo, R. Martínez-Hernández +11 more
2012Journal of Maternal-Fetal & Neonatal Medicine16 citations
Semantic Scholar
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.
J. Gámez, E. Also, L. Alías, M. Corbera-Bellalta +6 more
2007Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)14 citations
Semantic Scholar
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy
L. Alías, M. Barceló, I. Gich, M. Estapé +4 more
2007European Journal of Human Genetics10 citations
Semantic Scholar
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
S. Trifunov, D. Natera-de Benito, L. Carrera-García, A. Codina +11 more
2023Journal of Neuromuscular Diseases9 citations Open access
Semantic Scholar
Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family
L. Alías, J. Crespí, L. González-Quereda, J. Téllez +3 more
2018BMC Medical Genetics9 citations Open access
Semantic Scholar
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia
M. Pinto, S. Monges, E. Malfatti, F. Lubieniecki +8 more
2018Muscle and Nerve6 citations
Semantic Scholar
Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: Lessons for carrier diagnosis
M. Barceló, L. Alías, L. Caselles, Yolanda Robles +2 more
2006Genetics in Medicine4 citations Open access
Semantic Scholar
Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
L. Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé +9 more
2022Frontiers in Genetics3 citations Open access
Semantic Scholar
Analysis of the C9orf72 gene in spinal muscular atrophy patients
L. Alías, S. Bernal, M. Barceló, R. Martínez-Hernández +3 more
2014Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration2 citations
Semantic Scholar
P3.34 Ultrasound evaluation of nuchal translucency thickness and fetal movements in 98 pregnancies at risk for type I spinal muscular atrophy: relevance of the SMN2 copy number
Juan Parra, R. Martínez-Hernández, M. Barceló, L. Alías +7 more
20102 citations
Semantic Scholar
A Nonsense MITF Mutation Associated with Autosomal Dominant Hearing Loss and Intra-Family Clinical Heterogeneity
M. del Prado Venegas, S. Boronat, Sabina Luna, Núria Clivillé +6 more
2021Biomedical Journal of Scientific & Technical Research0 citations Open access
Semantic Scholar
SMA - TREATMENT
S. Trifunov, L. Carrera, J. E. Escudero, A. Codina +10 more
2021Neuromuscular Disorders0 citations
Semantic Scholar
SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES
S. Monges, J. Mozzoni, M. Franchi, S. Medrano +8 more
2018Neuromuscular Disorders0 citations
Semantic Scholar
G.P.9.05 Prenatal delay of muscle maturation in spinal muscular atrophy
R. Martínez-Hernández, S. Bernal, L. Alías, Eva Also +2 more
20090 citations
Semantic Scholar
G.P.2.19 Comparison of foetal muscle and spinal cord in SMA: Morphology, cell death and Bcl2/Bcl-X expression
E. Tizzano, C. Soler, L. Caselles, L. Alías +3 more
20070 citations
Semantic Scholar

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