Publicaciones
En esta sección se presentan publicaciones científicas relacionadas con las enfermedades neuromusculares y los trastornos motores, que reflejan el trabajo y la participación en investigación y generación de conocimiento en estas áreas.
Cada publicación incluye un enlace a PubMed, donde se puede consultar el artículo y obtener mayor información de cada una.
1.- The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study.
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2.- 285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January – 2nd February 2025, Hoofddorp, The Netherlands.
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3.- International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.
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4. Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.
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5.- Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.
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6.- Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
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7.- NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
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9.- Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells.
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10.- Inferring disease course from differential exon usage in the wide titinopathy spectrum.
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12.- Parents’ dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.
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13.- An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
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14.- Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
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15.- Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
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17.- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
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18.- International retrospective natural history study of LMNA-related congenital muscular dystrophy.
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19.- Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.
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20.- LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
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25.- The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
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26.- Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
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27.- Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy.