المؤلفون: Nivedita Patni, Craig Chard, David Araújo-Vilar, Helen Phillips, David A. Magee, Baris Akinci

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Diagnosis, Generalized lipodystrophy, Metreleptin, Partial lipodystrophy, Patient journey, Physician perspective, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e797b6f4aab84c6e8ee22d247b480f80

المؤلفون: Morey W Haymond, David Araújo-Vilar, John Balser, James H Lewis, Ruth Louzado, Carla Musso, Julia von Schnurbein, Martin Wabitsch, on behalf of the MEASuRE group

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Lipodystrophy, Leptin, Metreleptin, Registry, Real-world data, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/bd7f25e0ba5b4d79bfe44bc39fc15529

المؤلفون: Antía Fernández-Pombo, Sofía Sánchez-Iglesias, Ana I. Castro-Pais, Maria José Ginzo-Villamayor, Silvia Cobelo-Gómez, Teresa Prado-Moraña, Everardo Josué Díaz-López, Felipe F. Casanueva, Lourdes Loidi, David Araújo-Vilar

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: generalised lipodystrophy, partial lipodystrophy, body composition, diabetes mellitus, hypertriglyceridaemia, atherosclerotic cardiovascular disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1250203/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/8bee3dd1adf64e52944b759c400a14de

المؤلفون: Silvia Cobelo-Gómez, Sofía Sánchez-Iglesias, Alberto Rábano, Ana Senra, Pablo Aguiar, Noemí Gómez-Lado, Lara García-Varela, Iván Burgueño-García, Laura Lampón-Fernández, Antía Fernández-Pombo, Everardo Josué Díaz-López, Teresa Prado-Moraña, Beatriz San Millán, David Araújo-Vilar

المصدر: Neurobiology of Disease, Vol 187, Iss , Pp 106300- (2023)

مصطلحات موضوعية: BSCL2, Seipin, PELD, Transgenic mouse, Neurodegeneration, Celia's encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123003157; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/0cf182812fae411f97db2870888c7d1d

المؤلفون: David Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elena Losada, Andrés E. Muy-Pérez, Blanca González-Méndez, Sofía Sánchez-Iglesias

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Lipodystrophy, Adipose tissue, Mobile application, Rare diseases, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01364-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8461b38fdc1c400c8b434208e4dcf593

المؤلفون: Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Lipodystrophy, Registry, Rare diseases, Adipose tissue, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ad91856d129d4197a99f9320d48d27e9

المؤلفون: Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Complement system, Lipodystrophy, Barraquer-Simons syndrome, C3 nephritic factor, Autoimmunity, Acquired partial lipodystrophy, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a0286d5c92324b9698ac45f6544d6096

المؤلفون: Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F. Casanueva, David Araújo-Vilar

المصدر: Archives of Endocrinology and Metabolism, Vol 62, Iss 3, Pp 376-382 (2018)

مصطلحات موضوعية: Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000300376&lng=en&tlng=en; https://doaj.org/toc/2359-4292

URL الوصول: https://doaj.org/article/b68dc6605c864d61bc1df3bcd6f822c1

المؤلفون: David Araújo-Vilar, Sofía Quinteiro, Antía Fernández-Pompo, Sofía Sánchez-Iglesias

المصدر: Anales de Pediatría, Vol 93, Iss 4, Pp 270-271 (2020)

مصطلحات موضوعية: Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1695403319302942; https://doaj.org/toc/1695-4033

URL الوصول: https://doaj.org/article/098426b7bc894e3e871943d210df6ace

المؤلفون: Antía Fernández-Pombo, José M. Cameselle-Teijeiro, Jose A. Puñal-Rodríguez, Lourdes Loidi, Roberto Peinó-García, Paloma Cabanas-Rodríguez, Miguel Garrido-Pumar, Sandra Baleato-González, Enrique Flores-Ríos, David Araújo-Vilar

المصدر: Case Reports in Endocrinology, Vol 2019 (2019)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6501; https://doaj.org/toc/2090-651X

URL الوصول: https://doaj.org/article/07a7706242344901879fa74a99b9cfc0

المؤلفون: Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-1 (2020)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-1350-8; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8c6561c987144b70910d7a50dfabeb72

المؤلفون: Fernando Corvillo, Verónica Aparicio, Alberto López-Lera, Sofía Garrido, David Araújo-Vilar, María P. de Miguel, Margarita López-Trascasa

المصدر: Frontiers in Immunology, Vol 9 (2018)

مصطلحات موضوعية: generalized lipodystrophy, perilipin, autoimmunity, lipolysis, Lawrence syndrome, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.02142/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/5c5152614e7f4909aa0bc9b0b6f27aaa

المؤلفون: Alejandro Ruiz-Riquelme, Sofía Sánchez-Iglesias, Alberto Rábano, Encarna Guillén-Navarro, Rosario Domingo-Jiménez, Adriana Ramos, Isaac Rosa, Ana Senra, Peter Nilsson, Ángel García, David Araújo-Vilar, Jesús R. Requena

المصدر: Neurobiology of Disease, Vol 83, Iss , Pp 44-53 (2015)

مصطلحات موضوعية: Seipin, BSCL2, Neurodegeneration, Lipodystrophy, Intranuclear inclusions, Progressive encephalopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996115300279; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/0eeb5282a371446a80ac9d94445bca0a

المؤلفون: Sofía Sánchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillín-Amarelle, Blanca González-Méndez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodríguez-Cañete, Silvia Rodríguez-García, Encarnación Guillén-Navarro, Rosario Domingo-Jiménez, David Araújo-Vilar

المصدر: PLoS ONE, Vol 11, Iss 7, p e0158874 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4938205?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f1ab8f95bec942f2a420271d3e3b8676

المؤلفون: Everardo Josué Díaz-López, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Teresa Prado-Moraña, David Araújo-Vilar, Antia Fernandez-Pombo

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 17, p 9324 (2024)

مصطلحات موضوعية: laminopathies, lipodystrophy, Dunnigan disease, FPLD, Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/17/9324; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/4da45533364e4809b85b8b964ad7bcdd

الاتاحة: https://doi.org/10.3390/ijms25179324
https://doaj.org/article/4da45533364e4809b85b8b964ad7bcdd

المؤلفون: Silvia Cobelo-Gómez, Sofía Sánchez-Iglesias, Antía Fernández-Pombo, David Araújo-Vilar

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 2, p 1282 (2024)

مصطلحات موضوعية: LMNA, prelamin A, adipogenesis, FTI-277, AFCMe, 17-β estradiol, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/2/1282; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/7cab1965a3a74ee789b5d8e338ac7b66

الاتاحة: https://doi.org/10.3390/ijms25021282
https://doaj.org/article/7cab1965a3a74ee789b5d8e338ac7b66

المؤلفون: Antia Fernandez-Pombo, Everardo Josue Diaz-Lopez, Ana I. Castro, Sofia Sanchez-Iglesias, Silvia Cobelo-Gomez, Teresa Prado-Moraña, David Araujo-Vilar

المصدر: Cells; Volume 12; Issue 5; Pages: 725

مصطلحات موضوعية: LMNA, Dunnigan disease, type 2 familial partial lipodystrophy, laminopathies, FPLD2

وصف الملف: application/pdf

Relation: Cell Nuclei: Function, Transport and Receptors; https://dx.doi.org/10.3390/cells12050725

الاتاحة: https://doi.org/10.3390/cells12050725

المؤلفون: Fernando Corvillo, Laura González-Sánchez, Alberto López-Lera, Emilia Arjona, Giovanni Ceccarini, Ferruccio Santini, David Araújo-Vilar, Rebecca J Brown, Joan Villarroya, Francesc Villarroya, Santiago Rodríguez de Córdoba, Teresa Caballero, Pilar Nozal, Margarita López-Trascasa

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 12; Pages: 6608

مصطلحات موضوعية: adipsin, complement factor D, acquired partial lipodystrophy, Barraquer–Simons syndrome, complement system

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms22126608

الاتاحة: https://doi.org/10.3390/ijms22126608

المؤلفون: David Araújo-Vilar, Antía Fernández-Pombo, Berta Victoria, Adrián Mosquera-Orgueira, Silvia Cobelo-Gómez, Ana Castro-Pais, Álvaro Hermida-Ameijeiras, Lourdes Loidi, Sofía Sánchez-Iglesias

المصدر: Journal of Clinical Medicine; Volume 10; Issue 7; Pages: 1497

مصطلحات موضوعية: type 2 familial partial lipodystrophy, FPLD2, LMNA, T528M

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm10071497

الاتاحة: https://doi.org/10.3390/jcm10071497

المؤلفون: David Araújo-Vilar, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Gemma Rodríguez-Carnero, Felipe F. Casanueva, Antía Fernández-Pombo

المصدر: Journal of Clinical Medicine; Volume 10; Issue 6; Pages: 1259

مصطلحات موضوعية: lipodystrophy, Dunnigan disease, LMNA, laminopathies, body composition, DXA, variable expressivity

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm10061259

الاتاحة: https://doi.org/10.3390/jcm10061259