A cohort analysis of familial partial lipodystrophy from two Mediterranean countries.

Autor: Fernández-Pombo A; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain., Yildirim Simsir I; Division of Endocrinology and Metabolism Disorders, Department of Internal Medicine, Ege University Medical Faculty, Izmir, Turkey., Sánchez-Iglesias S; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain., Ozen S; Department of Pediatric Endocrinology, Faculty of Medicine, Ege University, İzmir, Turkey., Castro AI; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain.; CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Madrid, Spain., Atik T; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey., Loidi L; Galician Public Foundation for Genomic Medicine (SERGAS-Xunta de Galicia), Santiago de Compostela, Spain., Onay H; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey., Prado-Moraña T; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain., Adiyaman C; Division of Endocrinology and Metabolism, Department of Medicine, Dokuz Eylul University, Izmir, Turkey., Díaz-López EJ; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain., Altay C; Department of Radiology, Medical Faculty, Dokuz Eylul University, Izmir, Turkey., Ginzo-Villamayor MJ; Department of Estatística, Análise Matemática e Optimización, University of Santiago de Compostela, Santiago de Compostela, Spain., Akinci B; Division of Endocrinology and Metabolism, Department of Medicine, Dokuz Eylul University, Izmir, Turkey., Araújo-Vilar D; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Santiago, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Santiago, Spain.

Publikováno v: Diabetes, obesity & metabolism [Diabetes Obes Metab] 2024 Nov; Vol. 26 (11), pp. 4875-4886. Date of Electronic Publication: 2024 Aug 22.

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.

Autor: Díaz-López EJ; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain., Sánchez-Iglesias S; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain., Castro AI; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), 28029 Madrid, Spain., Cobelo-Gómez S; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain., Prado-Moraña T; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain., Araújo-Vilar D; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain., Fernandez-Pombo A; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 28; Vol. 25 (17). Date of Electronic Publication: 2024 Aug 28.

Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation.

Autor: Cobelo-Gómez S; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain., Sánchez-Iglesias S; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain., Fernández-Pombo A; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain., Araújo-Vilar D; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 20; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 20.

A murine model of BSCL2-associated Celia's encephalopathy.

Autor: Cobelo-Gómez S; UETeM-Molecular Pathology Group. Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain., Sánchez-Iglesias S; UETeM-Molecular Pathology Group. Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain., Rábano A; Alzheimer's Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Center, Madrid, Spain., Senra A; Department of Physiology, CIMUS, University of Santiago de Compostela, Spain., Aguiar P; Molecular Imaging and Medical Physics, University of Santiago de Compostela-IDIS, Spain; Nuclear Medicine and Molecular Imaging Group, IDIS, University Clinical Hospital of Santiago de Compostela, Spain., Gómez-Lado N; Molecular Imaging and Medical Physics, University of Santiago de Compostela-IDIS, Spain; Nuclear Medicine and Molecular Imaging Group, IDIS, University Clinical Hospital of Santiago de Compostela, Spain., García-Varela L; Molecular Imaging and Medical Physics, University of Santiago de Compostela-IDIS, Spain; Nuclear Medicine and Molecular Imaging Group, IDIS, University Clinical Hospital of Santiago de Compostela, Spain., Burgueño-García I; Alzheimer's Disease Research Unit, CIEN Foundation, Queen Sofia Foundation Alzheimer Center, Madrid, Spain., Lampón-Fernández L; UETeM-Molecular Pathology Group. Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain., Fernández-Pombo A; UETeM-Molecular Pathology Group. Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Spain., Díaz-López EJ; UETeM-Molecular Pathology Group. Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Spain., Prado-Moraña T; UETeM-Molecular Pathology Group. Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Spain., San Millán B; Grupo de Enfermedades Raras y Medicina Pediátrica, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Vigo, Spain; Pathology Department, Alvaro Cunqueiro Hospital, Vigo, Spain., Araújo-Vilar D; UETeM-Molecular Pathology Group. Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, Spain; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, Spain. Electronic address: david.araujo@usc.es.

Publikováno v: Neurobiology of disease [Neurobiol Dis] 2023 Oct 15; Vol. 187, pp. 106300. Date of Electronic Publication: 2023 Sep 16.

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Autor: Sánchez-Iglesias S; UETeM, CIMUS-IDIS, School of Medicine, University of Santiago de Compostela, Avda Barcelona s/n, 15782, Santiago de Compostela, Spain., Fernández-Pombo A; UETeM, CIMUS-IDIS, School of Medicine, University of Santiago de Compostela, Avda Barcelona s/n, 15782, Santiago de Compostela, Spain., Araújo-Vilar D; UETeM, CIMUS-IDIS, School of Medicine, University of Santiago de Compostela, Avda Barcelona s/n, 15782, Santiago de Compostela, Spain. david.araujo@usc.es.

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Apr; Vol. 42 (4), pp. 1597-1598. Date of Electronic Publication: 2020 Oct 21.