Publications (119) AURELIO HERNÁNDEZ LAÍN publications


  1. Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

    Brain : a journal of neurology, Vol. 146, Núm. 12, pp. 5235-5248

  2. Cerebral amyloid angiopathy–related inflammation: clinical features and treatment response in a case series

    Neurologia, Vol. 38, Núm. 8, pp. 550-559

  3. Clinical, Histopathologic and Genetic Features of Rhabdoid Meningiomas

    International Journal of Molecular Sciences, Vol. 24, Núm. 2

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

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

  5. 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

  6. 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

  7. 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

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

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

  9. Mitotic count is prognostic in IDH mutant astrocytoma without homozygous deletion of CDKN2A/B. Results of consensus panel review of EORTC trial 26053 (CATNON) and EORTC trial 22033-26033

    Neuro-oncology, Vol. 25, Núm. 8, pp. 1443-1449

  10. 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