Collaborative publications between two or more ECLip groups
https://pubmed.ncbi.nlm.nih.gov/32890433/
Evidence of ongoing complement activation on
adipose tissue from an 11-year-old girl with Barraquer-Simons syndrome
J Dermatol. 2020 Sep 5.
Fernando Corvillo, Pilar Nozal, Alberto
López-Lera, María P De Miguel, Juan Alberto
Piñero-Fernández, Raúl De Lucas, María D
García-Concepción, María J Beato, David Araújo-Vilar, Margarita
López-Trascasa
PMID: 32890433
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Atypical
Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W
Mutation
J Endocr Soc. 2020 Aug 1; 4(10): bvaa108.
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https://pubmed.ncbi.nlm.nih.gov/32685188/
Homozygous LMNA
p.R582H pathogenic variant reveals increasing effect on the severity of fat
loss in lipodystrophy
Clin Diabetes Endocrinol. 2020 Jul 14; 6: 13.
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32685188
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10.1186/s40842-020-00100-9
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Diagnostic
strategies and clinical management of lipodystrophy
Expert Rev Endocrinol Metab. 2020 Mar; 15(2): 95-114.
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Looking at
New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the
Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice
Cells. 2020 Mar 20; 9(3): 765.
Héléna Mosbah, Camille Vatier, Franck
Boccara, Isabelle Jéru, Olivier
Lascols, Marie-Christine Vantyghem, Bruno Fève, Bruno
Donadille, Elisabeth Sarrazin, Sophie
Benabbou, Jocelyn Inamo, Stéphane
Ederhy, Ariel Cohen, Barbara
Neraud, Pascale Richard, Fabien
Picard, Sophie Christin-Maitre, Alban
Redheuil, Karim Wahbi, Corinne
Vigouroux
PMID: 32245113
PMCID:
PMC7140635
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Cardiovascular
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Ann Endocrinol (Paris). 2020 Mar 4; S0003-4266(20)30037-8.
Helena Mosbah, Camille Vatier, Franck
Boccara, Isabelle Jéru, Marie-Christine
Vantyghem, Bruno Donadille, Karim
Wahbi, Corinne Vigouroux
PMID: 32201029
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https://pubmed.ncbi.nlm.nih.gov/32117065/
Congenital
Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of
Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation
of the Disease
Front Endocrinol (Lausanne). 2020 Feb 14; 11:39.
Giovanni Ceccarini, Silvia
Magno, Caterina Pelosini, Federica
Ferrari, Maria Rita Sessa, Gaia
Scabia, Margherita Maffei, Isabelle
Jéru, Olivier Lascols, Corinne
Vigouroux, Ferruccio Santini
PMID: 32117065
PMCID:
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European
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Orphanet J Rare Dis. 2020 Jan 15; 15(1): 17.
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
PMID: 31941540
PMCID:
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Diagnostic
Challenge in PLIN1-Associated Familial Partial Lipodystrophy
J Clin Endocrinol Metab. 2019 Dec 1; 104(12): 6025-6032.
Isabelle Jéru, Marie-Christine Vantyghem, Elise
Bismuth, Pascale Cervera, Sara
Barraud, PLIN1-Study Group; Martine
Auclair, Camille Vatier, Olivier
Lascols, David B Savage, Corinne
Vigouroux
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Diabetes Metab. 2019 Sep; 45(4): 382-389.
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M Laurent, V Tiffreau, A
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Ben Hamou, C Tard, R
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Klug, P Richard, C
Vigouroux, G Bonne, M
C Vantyghem, Diamenord–AEDNL Working Group
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Altered
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Lipodystrophy: an in vitro and in vivo study of adipose tissue browning
Exp Mol Med 2019
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Camilla Pellegrini, Marta Columbaro, Elisa
Schena, Sabino Prencipe, Davide
Andrenacci, Patricia Iozzo, Maria
Angela Guzzardi, Cristina Capanni, Elisabetta Mattioli, Manuela
Loi, David Araujo-Vilar, Stefano
Squarzoni, Saverio Cinti, Paolo
Morselli, Assuero Giorgetti, Laura
Zanotti, Alessandra Gambineri, Giovanna
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Orphanet J Rare Dis. 2019 Jul 12; 14(1): 177.
Camille Vatier, Dina Kalbasi, Marie-Christine
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partial lipodystrophy
Endocrine. 2019 Jun; 64(3): 500-511.
Elif A Oral, Phillip
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Salinardi, Rebecca J Brown
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Celia's
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Neurogenetics. 2019 May; 20(2): 73-82.
Sofía Sánchez-Iglesias, Melissa
Crocker, Mar O'Callaghan, Alejandra
Darling, Angels García-Cazorla, Rosario
Domingo-Jiménez, Ana Castro, Antía
Fernández-Pombo, Álvaro Ruibal, Pablo
Aguiar, Miguel Garrido-Pumar, Antonio
Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J Brown, David
Araújo-Vilar
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https://pubmed.ncbi.nlm.nih.gov/30296183/
Monogenic
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Curr Med Res Opin. 2019
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Camille Vatier, Marie-Christine Vantyghem, Caroline
Storey, Isabelle Jéru, Sophie
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Carel, Corinne Vigouroux, Elise
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Diagnosis and
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D Araújo-Vilar, F Santini
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Irisin levels
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Diabetes Metab. 2019 Jan; 45(1): 67-75.
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Laminopathies
Nucleus 2018; 9(1): 543-544.
Giovanna Lattanzi, Lorenzo Maggi, David
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Autoantibodies
Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy
Front Immunol. 2018 Sep 19; 9: 2142.
Fernando Corvillo, Verónica
Aparicio, Alberto López-Lera, Sofía
Garrido, David Araújo-Vilar, María
P de Miguel, Margarita López-Trascasa
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Long-term
effectiveness and safety of metreleptin in the treatment of patients with
generalized lipodystrophy
Endocrine. 2018 Jun; 60(3): 479-489.
Rebecca J Brown, Elif A Oral, Elaine
Cochran, David Araújo-Vilar, David
B Savage, Alison Long, Gregory
Fine, Taylor Salinardi, Phillip
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PMID: 29644599
PMCID:
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https://pubmed.ncbi.nlm.nih.gov/29438482/
The
lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal
inducer T/Brachyury and early vascular differentiation gene networks
Hum Mol Genet. 2018 Apr 15; 27(8): 1447-1459.
Nolwenn Briand, Anne-Claire Guénantin, Dorota
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Mantecon, Emilie Capel, Marie
Garcia, Anja Oldenburg, Jonas
Paulsen, Jean-Sebastien Hulot, Corinne
Vigouroux, Philippe Collas
PMID: 29438482
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https://pubmed.ncbi.nlm.nih.gov/29267953/
A Novel
Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent
Heterozygous LMNA p.T10I Mutation
J Clin Endocrinol Metab. 2018 Mar 1; 103(3): 1005-1014.
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Mandibuloacral
dysplasia: A premature ageing disease with aspects of physiological ageing
Ageing Res Rev. 2018
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Estimating
the prevalence of generalized and partial lipodystrophy: findings and
challenges
Diabetes Metab Syndr Obes. 2017 Sep 13; 10: 375-383.
Elaine Chiquette, Elif A Oral, Abhimanyu
Garg, David Araújo-Vilar, Praveen
Dhankhar
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LMNA-associated
partial lipodystrophy: anticipation of metabolic complications
J Med Genet.
2017 Jun; 54(6): 413-416.
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One-year
metreleptin therapy decreases PCSK9 serum levels in diabetic patients with
monogenic lipodystrophy syndromes
Diabetes Metab. 2017 Jun; 43(3): 275-279.
C Vatier, L
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Human
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hyperplasia, and suppression of leptin expression
Elife. 2017 Apr 19; 6: e23813.
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Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew
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Sleigh, John Crawford, Anette
Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês
Barroso, Torben Hansen, Helen
Cox, Mary Reilly, Alex
Rossor, Rebecca J Brown, Simeon
I Taylor, Duncan McHale, Martin
Armstrong, Elif A Oral, Vladimir
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The Diagnosis
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von Schnurbein, Ekaterina Sorkina, Takara Stanley, Corinne
Vigouroux, Martin Wabitsch, Rachel
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Novel LMNA
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Isabelle Jéru, Camille Vatier, David Araujo-Vilar, Corinne
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Familial
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with classic codon 482 Lamin A/C (LMNA) mutations
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One-year
metreleptin improves insulin secretion in patients with diabetes linked to
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Barrier-to-autointegration
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LMNA
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downregulation
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Pauline Afonso, Martine Auclair, Franck
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Lymphoma in
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The p.R482W
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Mutations
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