S. Bernal

发表

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

E. Tizzano, P. Fuentes-Prior, C. Serra‐Juhé, 2018, European Journal of Human Genetics.

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

E. Tizzano, S. Monges, L. Gravina, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele.

M. Baiget, C. Ayuso, D. Valverde, 2006, Molecular vision.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

J. González, G. Parra, M. Gut, 2022, The Journal of molecular diagnostics : JMD.

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families

M. Baiget, C. Ayuso, D. Valverde, 2001, Ophthalmic genetics.

Analysis of the C9orf72 gene in spinal muscular atrophy patients

M. Barceló, M. Baiget, E. Tizzano, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Molecular Scanning of the ABCA4 Gene in Spanish Patients with Retinitis Pigmentosa and Stargardt Disease: Identification of Novel Mutations

M. Ferrari, M. Baiget, S. Stenirri, 2007, European journal of ophthalmology.

Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: Identification of novel mutations.

M. Ferrari, M. Baiget, S. Stenirri, 2007, European journal of ophthalmology.

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

E. Tizzano, C. Soler‐Botija, I. Gich, 2009, Journal of neuropathology and experimental neurology.

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

E. Tizzano, M. Baena, L. Alías, 2021, International journal of molecular sciences.

Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

E. Tizzano, L. Alías, S. Bernal, 2014, Journal of neuropathology and experimental neurology.

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

E. Aller, E. Tizzano, E. Bertini, 2022, International journal of molecular sciences.

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies

M. Baiget, E. Tizzano, I. Hernán, 2008, Clinical genetics.

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

Rafael J. Yáñez-Muñoz, J. Yee, E. Tizzano, 2015, Scientific Reports.

Synaptic defects in type I spinal muscular atrophy in human development

E. Tizzano, L. Alías, S. Bernal, 2013, The Journal of pathology.

Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis

C. Díaz-Torné, A. Lasa, P. Moya, 2022, Pharmaceutics.

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation

M. Baiget, C. Ayuso, D. Valverde, 2005, Clinical genetics.

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

S. Borrego, G. Antiñolo, M. Baiget, 2003, Journal of medical genetics.

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.

C. Hernández-Chico, M. Barceló, M. Baiget, 2011, Genetic testing and molecular biomarkers.

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number

M. Baiget, E. Tizzano, N. Rams, 2012, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

D. Cuadras, J. Colomer, L. Martorell, 2019, Neuromuscular Disorders.

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

C. Hernández-Chico, M. Baiget, E. Tizzano, 2011, Neuromuscular Disorders.

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

M. Barceló, M. Baiget, E. Tizzano, 2011, European Journal of Human Genetics.

Heterozygous APOE Christchurch in familial Alzheimer’s disease without mutations in other Mendelian genes

B. Rodríguez-Santiago, A. Ruiz, J. Clarimón, 2020, Neuropathology and applied neurobiology.

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

E. Tizzano, P. Fuentes-Prior, L. Alías, 2020, Neurology: Genetics.

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

S. Borrego, C. Hernández-Chico, J. Rosell, 2010, Journal of Medical Genetics.

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

M. Barceló, M. Baiget, E. Tizzano, 2014, Clinical genetics.

Novel mutations in the USH1C gene in Usher syndrome patients

E. Aller, J. Millán, M. Baiget, 2010, Molecular vision.

Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy

M. Barceló, M. Baiget, E. Tizzano, 2011, Neuromuscular Disorders.

Copy-number variations in EYS: a significant event in the appearance of arRP.

S. Bhattacharya, S. Borrego, G. Antiñolo, 2011, Investigative ophthalmology & visual science.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

E. Aller, J. Millán, G. Antiñolo, 2010, Investigative ophthalmology & visual science.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome

E. Roé, E. Baselga, C. Bredrup, 2021, American journal of medical genetics. Part A.

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

E. Tizzano, I. Paramonov, P. Fuentes-Prior, 2021, Human mutation.

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

E. Aller, S. Borrego, C. Hernández-Chico, 2018, Neuromuscular Disorders.

NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia.

J. Surrallés, S. Rodríguez-Perales, M. Ramírez, 2019, Cell stem cell.

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

M. Baiget, M. Cortón, E. Vallespín, 2013, Orphanet Journal of Rare Diseases.

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

J. Crespí, L. Alías, S. Bernal, 2018, BMC Medical Genetics.

Association of the CFTR gene with asthma and airway mucus hypersecretion

M. Baiget, V. Plaza, A. Crespo-Lessmann, 2020, PloS one.

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

J. Rosell, M. Baiget, C. Ayuso, 2003, Journal of medical genetics.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

E. Aller, J. Millán, M. Baiget, 2011, Orphanet journal of rare diseases.

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

E. Aller, J. Millán, S. Borrego, 2009, Human Genetics.

Choroidal neovascularization associated with goldmann-favre syndrome.

M. Baiget, R. Navarro, S. Bernal, 2007, Retinal cases & brief reports.

Excellent response to secukinumab in an infant with severe generalized pustular psoriasis

J. Aróstegui, S. Bernal, C. López-Sánchez, 2021, The Journal of dermatology.

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

E. Tizzano, P. Fuentes-Prior, C. Serra‐Juhé, 2018, European Journal of Human Genetics.

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

C. Ortez, D. Alcolea, C. Jiménez-Mallebrera, 2023, Journal of neuromuscular diseases.

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

S. Borrego, G. Antiñolo, M. Baiget, 2000, Ophthalmic genetics.

Late‐Onset Beta‐Propeller Protein‐Associated Neurodegeneration: A Case Report

J. Kulisevsky, B. Rodríguez-Santiago, J. Pagonabarraga, 2023, Movement disorders clinical practice.

Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease

I. Jericó, S. Bernal, P. Gallano, 2020, Annals of clinical and translational neurology.

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

E. Aller, S. Borrego, E. Tizzano, 2018, Neuromuscular Disorders.

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

E. Tizzano, S. Monges, L. Gravina, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical Value of IL6R Gene Variants as Predictive Biomarkers for Toxicity to Tocilizumab in Patients with Rheumatoid Arthritis

C. Díaz-Torné, A. Lasa, P. Moya, 2022, Journal of personalized medicine.