L. Gonzalez-Quereda

发表

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

J. Millán, S. Borrego, M. Trujillo-Tiebas, 2016 .

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

T. Crawford, C. Bruno, E. Zanoteli, 2021, Brain : a journal of neurology.

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.

P. Briones, L. Gort, E. Quintana, 2009, Medicina clinica.

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.

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

I. Illa, E. Gallardo, V. Straub, 2018, Neuromuscular Disorders.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

C. Horlings, R. Carlier, E. Ricci, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

A new phenotype of dysferlinopathy with congenital onset

C. Paradas, I. Illa, E. Gallardo, 2009, Neuromuscular Disorders.

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

J. Clarimón, D. Gómez-Andrés, R. Rojas-García, 2016, Neuromuscular Disorders.

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

C. Paradas, R. Rojas-García, I. Illa, 2007, Neuromuscular Disorders.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

M. Baiget, E. Rivas, C. Paradas, 2012, Orphanet Journal of Rare Diseases.

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

E. Aller, L. Martínez-Dolz, I. Azorín, 2022, Annals of neurology.

Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands

X. Suárez-Calvet, J. Díaz-Manera, L. Gonzalez-Quereda, 2022, European journal of neurology.

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

I. Rojas-Marcos, M. Mayos, A. López de Munain, 2019, Molecular genetics and metabolism.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

C. Ortez, Miroslav P. Milev, M. Sacher, 2019, Scientific Reports.

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

M. Baiget, C. Paradas, J. Juan-Mateu, 2012, Clinical genetics.

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

C. Ortez, M. Madruga-Garrido, I. Jericó, 2020, Genes.

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

S. M. van der Maarel, R. Rojas-García, B. Flix, 2011, PloS one.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, S. César, 2020, Pediatric neurology.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

F. Muntoni, G. Ravenscroft, N. Laing, 2022, Neuromuscular Disorders.

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

M. Baiget, C. Ortez, J. Juan-Mateu, 2015, PloS one.

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

A. Carrió, J. Dopazo, B. Rodríguez-Santiago, 2019, Journal of Medical Genetics.

Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients

B. Rodríguez-Santiago, J. Surrallés, A. Lasa, 2020, Cancers.

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

M. Baiget, S. Pascual-Pascual, J. Juan-Mateu, 2013, PloS one.

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

J. Zidar, C. Angelini, B. Peterlin, 2011, European journal of neurology.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

D. Cuadras, C. Ortez, J. Colomer, 2020, Neuromuscular Disorders.

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.

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

C. Ortez, E. Rivas, A. Hernández-Laín, 2022, Journal of Medical Genetics.

LMNA mutation in progeroid syndrome in association with strokes.

M. Baiget, J. Juan-Mateu, M. Pineda, 2011, European Journal of Medical Genetics.

Phenotypic variability in a Spanish family with a Caveolin-3 mutation

P. Gallano, C. Navarro, L. Gonzalez-Quereda, 2009, Journal of the Neurological Sciences.

Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization

D. Cuadras, C. Ortez, A. Arzimanoglou, 2020, Epilepsia.

Molecular characterization of congenital myasthenic syndromes in Spain

J. Senderek, D. Beeson, T. Evangelista, 2017, Neuromuscular Disorders.

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

M. Baiget, J. Juan-Mateu, J. Colomer, 2013, Neuromuscular Disorders.

Isolated cognitive abnormalities associated to DMD mutations

A. Cnaan, M. Baiget, C. Spurney, 2013 .

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

E. Gallardo, J. Díaz-Manera, M. Olivé, 2023, Neuromuscular Disorders.

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

A. Lasa, M. Venegas, C. Orús, 2022, Frontiers in Genetics.

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.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

S. Borrego, M. Trujillo-Tiebas, J. Molano, 2017, Neurologia.

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

A. Hernández-Laín, C. Domínguez-González, L. Gonzalez-Quereda, 2023, Neuromuscular Disorders.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, J. Colomer, 2020, Pediatric neurology.

Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle

E. Rivas, J. Juan-Mateu, E. Verdura, 2012, Clinical genetics.

LMNA mutation in progeroid syndrome in association with strokes.

J. Juan-Mateu, M. Pineda, E. Verdura, 2011, European journal of medical genetics.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

S. Borrego, M. Trujillo-Tiebas, J. Molano, 2017, Neurologia.