Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (23)

2024

  1. Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

    Journal of Neurology, Vol. 271, Núm. 2, pp. 986-994

  2. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals

    Journal of Human Genetics

  3. Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

    Scientific Reports, Vol. 14, Núm. 1

2023

  1. Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

    Journal of Clinical Medicine, Vol. 12, Núm. 9

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

    Neuromuscular Disorders, Vol. 33, Núm. 12, pp. 983-987

  3. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  4. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619

  5. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

    Acta Neuropathologica, Vol. 145, Núm. 1, pp. 127-143

  6. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations

    American journal of physiology. Cell physiology, Vol. 324, Núm. 3, pp. C769-C776

2022

  1. A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness

    Brain : a journal of neurology, Vol. 145, Núm. 10, pp. e99-e102

  2. Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene

    Muscle and Nerve

2021

  1. Preferent diaphragmatic involvement in tk2 deficiency: An autopsy case study

    International Journal of Molecular Sciences, Vol. 22, Núm. 11

  2. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

    Molecular Genetics and Metabolism Reports, Vol. 26

2020

  1. A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues

    Mitochondrion, Vol. 50, pp. 14-18

  2. Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum

    Journal of Neurology, Vol. 267, Núm. 9, pp. 2546-2555

  3. SOD1 mutations in adult-onset distal spinal muscular atrophy

    European Journal of Neurology

2019

  1. Adult-onset distal spinal muscular atrophy: A new phenotype associated with KIF5A mutations

    Brain

  2. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

    Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941

2017

  1. Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene

    Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808