Collaborative ECLip publications

Collaborative publications between two or more ECLip groups

https://www.sciencedirect.com/science/article/pii/S0003426622008411?via%3Dihub
Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022
Annales d’Endocrinologie (2022)
Mosbah H, Akinci B, Araujo-Vilar D, Tudela JC, Ceccarini G, Collas P, Farooqi S, Fernandez-Pombo A, Jeru I, Karpe F, Krause K, Maffei M, Miehle K, Oral E,
Tudela NPD, Prieur X, Rochford J, Sanders R, Santini F, Savage DB, Schnurbein JV, Semple R, Stears A, Sorkina E, Vantyghem M-Christine, Vatier C, Vidal-Puig T, Vigouroux C, Wabitsch M.
DOI: 10.1016/j.ando.2022.07.674

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
DOI: 10.1111/1346-8138.15570

https://pubmed.ncbi.nlm.nih.gov/32913962/
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
J Endocr Soc. 2020 Aug 1; 4(10): bvaa108.
Silvia Magno, Giovanni Ceccarini, Caterina Pelosini, Federica Ferrari, Flavia Prodam, Donatella Gilio, Margherita Maffei, Maria Rita Sessa, Andrea Barison, Annamaria Ciccarone, Michele Emdin, Gianluca Aimaretti, Ferruccio Santini
PMID: 32913962
PMCID: PMC7474543
DOI: 10.1210/jendso/bvaa108

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. Utku Erdem Soyaltin, Ilgin Yildirim Simsir, Baris Akinci, Canan Altay, Suleyman Cem Adiyaman, Kristen Lee, Huseyin Onay, Elif Arioglu Oral
PMID: 32685188
PMCID: PMC7362519
DOI: 10.1186/s40842-020-00100-9

https://pubmed.ncbi.nlm.nih.gov/32368944/
Diagnostic strategies and clinical management of lipodystrophy
Expert Rev Endocrinol Metab. 2020 Mar; 15(2): 95-114.
Maria C Foss-Freitas, Baris Akinci, Yingying Luo, Andra Stratton, Elif A Oral
PMID: 32368944
DOI: 10.1080/17446651.2020.1735360

https://pubmed.ncbi.nlm.nih.gov/32245113/
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
DOI: 10.3390/cells9030765

https://pubmed.ncbi.nlm.nih.gov/32201029/
Cardiovascular complications of lipodystrophic syndromes - focus on laminopathies
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
DOI: 10.1016/j.ando.2020.03.002

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: PMC7034310
DOI: 10.3389/fendo.2020.00039

https://pubmed.ncbi.nlm.nih.gov/31941540/
European lipodystrophy registry: background and structure
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: PMC6964101
DOI: 10.1186/s13023-020-1295-y

https://pubmed.ncbi.nlm.nih.gov/31504636/
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
PMID: 31504636
PMCID: PMC6916795
DOI: 10.1210/jc.2019-00849

https://pubmed.ncbi.nlm.nih.gov/30287275/
Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation
Diabetes Metab. 2019 Sep; 45(4): 382-389.
M Kwapich, D Lacroix, S Espiard, S Ninni, F Brigadeau, C Kouakam, P Degroote, J M Laurent, V Tiffreau, A Jannin, L Humbert, A Ben Hamou, C Tard, R Ben Yaou, N Lamblin, D Klug, P Richard, C Vigouroux, G Bonne, M C Vantyghem, Diamenord–AEDNL Working Group
PMID: 30287275
DOI: 10.1016/j.diabet.2018.09.006

https://pubmed.ncbi.nlm.nih.gov/31375660/
Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning
Exp Mol Med 2019 Aug 2; 51(8): 1-17.
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 Lattanzi
PMID: 31375660
PMCID: PMC6802660
DOI: 10.1038/s12276-019-0289-0

https://pubmed.ncbi.nlm.nih.gov/31300002/
Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes
Orphanet J Rare Dis. 2019 Jul 12; 14(1): 177.
Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse, Corinne Vigouroux
PMID: 31300002
PMCID: PMC6626409
DOI: 10.1186/s13023-019-1141-2

https://pubmed.ncbi.nlm.nih.gov/30805888/
Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy
Endocrine. 2019 Jun; 64(3): 500-511.
Elif A Oral, Phillip Gorden, Elaine Cochran, David Araújo-Vilar, David B Savage, Alison Long, Gregory Fine, Taylor Salinardi, Rebecca J Brown
PMID: 30805888
PMCID: PMC7340120
DOI: 10.1007/s12020-019-01862-8

https://pubmed.ncbi.nlm.nih.gov/30903322/
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
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
PMID: 30903322
PMCID: PMC7288395
DOI: 10.1007/s10048-019-00574-5

https://pubmed.ncbi.nlm.nih.gov/30296183/
Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases
Curr Med Res Opin. 2019 Mar; 35(3): 543-552.
Camille Vatier, Marie-Christine Vantyghem, Caroline Storey, Isabelle Jéru, Sophie Christin-Maitre, Bruno Fève, Olivier Lascols, Jacques Beltrand, Jean-Claude Carel, Corinne Vigouroux, Elise Bismuth
PMID: 30296183
DOI: 10.1080/03007995.2018.1533459

https://pubmed.ncbi.nlm.nih.gov/29704234/
Diagnosis and treatment of lipodystrophy: a step-by-step approach
J Endocrinol Invest. 2019 Jan; 42(1): 61-73.
D Araújo-Vilar, F Santini
PMID: 29704324
PMCID: PMC6304182
DOI: 10.1007/s40618-018-0887-z

https://pubmed.ncbi.nlm.nih.gov/30165155/
Irisin levels in LMNA-associated partial lipodystrophies
Diabetes Metab. 2019 Jan; 45(1): 67-75.
F Bensmaïne, K Benomar, S Espiard, C Vahe, K Le Mapihan, G Lion, M Lemdani, E Chazard, O Ernst, C Vigouroux, P Pigny, M-C Vantyghem
PMID: 30165155
DOI: 10.1016/j.diabet.2018.08.003

https://pubmed.ncbi.nlm.nih.gov/30719953/
Laminopathies
Nucleus 2018; 9(1): 543-544.
Giovanna Lattanzi, Lorenzo Maggi, David Araujo-Vilar
PMID: 30719953
PMCID: PMC7000148
DOI: 10.1080/19491034.2018.1515606

https://pubmed.ncbi.nlm.nih.gov/30283460/
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
PMID: 30283460
PMCID: PMC6156147
DOI: 10.3389/fimmu.2018.02142

https://pubmed.ncbi.nlm.nih.gov/29644599/
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 Gorden
PMID: 29644599
PMCID: PMC5936645
DOI: 10.1007/s12020-018-1589-1

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 Jeziorowska, Akshay Shah, Matthieu Mantecon, Emilie Capel, Marie Garcia, Anja Oldenburg, Jonas Paulsen, Jean-Sebastien Hulot, Corinne Vigouroux, Philippe Collas
PMID: 29438482
DOI: 10.1093/hmg/ddy055

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.
Iram Hussain, Nivedita Patni, Masako Ueda, Ekaterina Sorkina, Cynthia M Valerio, Elaine Cochran, Rebecca J Brown, Joseph Peeden, Yulia Tikhonovich, Anatoly Tiulpakov, Sarah R S Stender, Elisabeth Klouda, Marwan K Tayeh, Jeffrey W Innis, Anders Meyer, Priti Lal, Amelio F Godoy-Matos, Milena G Teles, Beverley Adams-Huet, Daniel J Rader, Robert A Hegele, Elif A Oral, Abhimanyu Garg
PMID: 29267953
PMCID: PMC6283411
DOI: 10.1210/jc.2017-02078

https://pubmed.ncbi.nlm.nih.gov/29208544/
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing
Ageing Res Rev. 2018 Mar; 42: 1-13.
Vittoria Cenni, Maria Rosaria D'Apice, Paolo Garagnani, Marta Columbaro, Giuseppe Novelli, Claudio Franceschi, Giovanna Lattanzi
PMID: 29208544
DOI: 10.1016/j.arr.2017.12.001

https://pubmed.ncbi.nlm.nih.gov/29066925/
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
PMID: 29066925
PMCID: PMC5604558
DOI: 10.2147/DMSO.S130810

https://pubmed.ncbi.nlm.nih.gov/28408391/
LMNA-associated partial lipodystrophy: anticipation of metabolic complications
J Med Genet. 2017 Jun; 54(6): 413-416.
Isabelle Jeru, Camille Vatier, Marie-Christine Vantyghem, Olivier Lascols, Corinne Vigouroux
PMID: 28408391
DOI: 10.1136/jmedgenet-2016-104437

https://pubmed.ncbi.nlm.nih.gov/27692500/
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 Arnaud, X Prieur, B Guyomarch, C Le May, E Bigot, M Pichelin, A Daguenel, M-C Vantyghem, J-F Gautier, C Vigouroux, B Cariou
PMID: 27692500
DOI: 10.1016/j.diabet.2016.08.004

https://pubmed.ncbi.nlm.nih.gov/28414270/
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
Elife. 2017 Apr 19; 6: e23813.
Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison 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 Saudek, Stephen O'Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
PMID: 28414270
PMCID: PMC5422073
DOI: 10.7554/eLife.23813

https://pubmed.ncbi.nlm.nih.gov/27485410/
Clinical Utility Gene Card for: Familial partial lipodystrophy
Eur J Hum Genet. 2017 Feb; 25(2).
Isabelle Jéru, Camille Vatier, David Araujo-Vilar, Corinne Vigouroux, Olivier Lascols
PMID: 27485410
PMCID: PMC5255941
DOI: 10.1038/ejhg.2016.102

https://pubmed.ncbi.nlm.nih.gov/27710244/
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline
J Clin Endocrinol Metab. 2016 Dec; 101(12): 4500-4511.
Rebecca J Brown, David Araujo-Vilar, Pik To Cheung, David Dunger, Abhimanyu Garg, Michelle Jack, Lucy Mungai, Elif A Oral, Nivedita Patni, Kristina I Rother, Julia von Schnurbein, Ekaterina Sorkina, Takara Stanley, Corinne Vigouroux, Martin Wabitsch, Rachel Williams, Tohru Yorifuji
PMID: 27710244
PMCID: PMC5155679
DOI: 10.1210/jc.2016-2466

https://pubmed.ncbi.nlm.nih.gov/27334370/
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation
J Med Genet. 2016 Nov; 53(11): 776-785.
Clara Soria-Valles, Dido Carrero, Elisabeth Gabau, Gloria Velasco, Víctor Quesada, Clea Bárcena, Marleen Moens, Karen Fieggen, Silvia Möhrcken, Martina Owens, Diana A Puente, Óscar Asensio, Bart Loeys, Ana Pérez, Valerie Benoit, Wim Wuyts, Nicolas Lévy, Raoul C Hennekam, Annachiara De Sandre-Giovannoli, Carlos López-Otín
PMID: 27334370
DOI: 10.1136/jmedgenet-2015-103695

https://pubmed.ncbi.nlm.nih.gov/27189019/
Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy
Eur J Hum Genet. 2016 Nov; 24(11).
Isabelle Jéru, Camille Vatier, David Araujo-Vilar, Corinne Vigouroux, Olivier Lascols
PMID: 27189019
PMCID: PMC5110052
DOI: 10.1038/ejhg.2016.53

https://pubmed.ncbi.nlm.nih.gov/26756202/
Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutatio