Publicaciones (119) Publicaciones de AURELIO HERNÁNDEZ LAÍN

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

  4. Low rCBV values in glioblastoma tumor progression under chemoradiotherapy

    Neuroradiology, Vol. 66, Núm. 3, pp. 317-323

2023

  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

2022

  1. A clinically compatible drug-screening platform based on organotypic cultures identifies vulnerabilities to prevent and treat brain metastasis

    EMBO molecular medicine, Vol. 14, Núm. 3, pp. e14552

  2. 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

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

    Muscle and Nerve

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

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

  5. Blood-Brain Barrier Disruption: A Common Driver of Central Nervous System Diseases

    Neuroscientist, Vol. 28, Núm. 3, pp. 222-237

  6. 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