SOFIA
SANCHEZ IGLESIAS
PhD Assistant Professor
R.
Domingo Jiménez
Publications by the researcher in collaboration with R. Domingo Jiménez (7)
2021
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Celia’s encephalopathy (Bscl2-gene-related): Current understanding
Journal of Clinical Medicine, Vol. 10, Núm. 7
2019
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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics, Vol. 20, Núm. 2, pp. 73-82
2018
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Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy
European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406
2016
2015
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Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease
Neurobiology of Disease, Vol. 83, pp. 44-53
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Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience
Endocrine, Vol. 49, Núm. 1, pp. 139-147
2013
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A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409