Cristina Domínguez González-rekin lankidetzan egindako argitalpenak (33)

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. 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

  3. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients

    American Journal of Pathology, Vol. 192, Núm. 8, pp. 1151-1166

  4. Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (Ad-PEO)/PEO-plus due to TWNK mutations

    Journal of Clinical Medicine, Vol. 11, Núm. 1

2021

  1. Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 2, pp. 283-296

  2. Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype

    Neurology, Vol. 96, Núm. 21, pp. 1007-1009

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

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

  4. 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. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

    Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 643-646

  3. Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations

    Journal of clinical neuromuscular disease, Vol. 21, Núm. 4, pp. 222-224

  4. 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