AURELIO
HERNÁNDEZ LAÍN
Profesor asociado de Ciencias de la Salud
Instituto de Investigación Sanitaria Hospital 12 de Octubre
Madrid, EspañaPublications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria Hospital 12 de Octubre (7)
2024
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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
Journal of Neurology, Vol. 271, Núm. 2, pp. 986-994
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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
Journal of Human Genetics, Vol. 69, Núm. 5, pp. 187-196
2023
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Cerebral amyloid angiopathy–related inflammation: clinical features and treatment response in a case series
Neurologia, Vol. 38, Núm. 8, pp. 550-559
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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
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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Acta Neuropathologica, Vol. 145, Núm. 1, pp. 127-143
2022
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FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum
Journal of Medical Genetics, Vol. 59, Núm. 11, pp. 1069-1074
2021
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Preferent diaphragmatic involvement in tk2 deficiency: An autopsy case study
International Journal of Molecular Sciences, Vol. 22, Núm. 11