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SOFIA
SANCHEZ IGLESIAS
PhD Assistant Professor
Publications (43) SOFIA SANCHEZ IGLESIAS publications
2024
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Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study
The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944
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Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation
International Journal of Molecular Sciences, Vol. 25, Núm. 2
2023
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A murine model of BSCL2-associated Celia's encephalopathy
Neurobiology of Disease, Vol. 187
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Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study
Journal of Clinical Medicine, Vol. 12, Núm. 23
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Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Cells, Vol. 12, Núm. 5
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Increased musculature: A warning sign of familial partial lipodystrophy
Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 4, pp. 290-292
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Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Frontiers in Endocrinology, Vol. 14
2022
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Lipodystrophy-associated progeroid syndromes
Hormones, Vol. 21, Núm. 4, pp. 555-571
2021
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Celia’s encephalopathy (Bscl2-gene-related): Current understanding
Journal of Clinical Medicine, Vol. 10, Núm. 7
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Familial partial lipodystrophy syndromes
Presse Medicale
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Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
Neurological Sciences
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Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso
Galicia Clínica, Vol. 82, Núm. 1, pp. 33-35
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Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant
Journal of Clinical Medicine, Vol. 10, Núm. 7
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Variable expressivity in type 2 familial partial lipodystrophy related to r482 and n466 variants in the lmna gene
Journal of Clinical Medicine, Vol. 10, Núm. 6, pp. 1-9
2020
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Hyperpigmented macula: An adverse reaction of treatment with metreleptin
Anales de Pediatria, Vol. 93, Núm. 4, pp. 270-271
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LipoDDx: A mobile application for identification of rare lipodystrophy syndromes
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
2019
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A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
Seizure, Vol. 71, pp. 161-165
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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
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Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies
Neuroscience, Vol. 396, pp. 119-137
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