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
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 CeccariniCaterina PelosiniFederica FerrariFlavia ProdamDonatella GilioMargherita MaffeiMaria Rita SessaAndrea BarisonAnnamaria CiccaroneMichele EmdinGianluca AimarettiFerruccio 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 SoyaltinIlgin Yildirim SimsirBaris AkinciCanan AltaySuleyman Cem AdiyamanKristen LeeHuseyin OnayElif 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 AkinciYingying LuoAndra StrattonElif 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 MosbahCamille VatierFranck BoccaraIsabelle JéruOlivier LascolsMarie-Christine VantyghemBruno FèveBruno DonadilleElisabeth SarrazinSophie BenabbouJocelyn InamoStéphane EderhyAriel CohenBarbara NeraudPascale RichardFabien PicardSophie Christin-MaitreAlban RedheuilKarim WahbiCorinne 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 MosbahCamille VatierFranck BoccaraIsabelle JéruMarie-Christine VantyghemBruno DonadilleKarim WahbiCorinne 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 CeccariniSilvia MagnoCaterina PelosiniFederica FerrariMaria Rita SessaGaia ScabiaMargherita MaffeiIsabelle JéruOlivier LascolsCorinne VigourouxFerruccio 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 SchnurbeinClaire AdamsBaris AkinciGiovanni CeccariniMaria Rosaria D'ApiceAlessandra GambineriRaoul C M HennekamIsabelle JeruGiovanna LattanziKonstanze MiehleGabriele NagelGiuseppe NovelliFerruccio SantiniErmelinda Santos SilvaDavid B SavagePaolo SbracciaJannik SchaafEkaterina SorkinaGeorge TantelesMarie-Christine VantyghemCamille VatierCorinne VigourouxElena VoronaDavid Araújo-VilarMartin 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 JéruMarie-Christine VantyghemElise BismuthPascale CerveraSara BarraudPLIN1-Study GroupMartine AuclairCamille VatierOlivier LascolsDavid B SavageCorinne 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 KwapichD LacroixS EspiardS NinniF BrigadeauC KouakamP DegrooteJ M LaurentV TiffreauA JanninL HumbertA Ben HamouC TardR Ben YaouN LamblinD KlugP RichardC VigourouxG BonneM C VantyghemDiamenord–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 PellegriniMarta ColumbaroElisa SchenaSabino PrencipeDavide AndrenacciPatricia IozzoMaria Angela GuzzardiCristina CapanniElisabetta MattioliManuela LoiDavid Araujo-VilarStefano SquarzoniSaverio CintiPaolo MorselliAssuero GiorgettiLaura ZanottiAlessandra GambineriGiovanna 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 VatierDina KalbasiMarie-Christine VantyghemOlivier LascolsIsabelle JéruAnne DaguenelJean-François GautierMarion BuyseCorinne 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 OralPhillip GordenElaine CochranDavid Araújo-VilarDavid B SavageAlison LongGregory FineTaylor SalinardiRebecca 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-IglesiasMelissa CrockerMar O'CallaghanAlejandra DarlingAngels García-CazorlaRosario Domingo-JiménezAna CastroAntía Fernández-PomboÁlvaro RuibalPablo AguiarMiguel Garrido-PumarAntonio Rodríguez-NúñezJulián Álvarez-EscuderoRebecca J BrownDavid 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 VatierMarie-Christine VantyghemCaroline StoreyIsabelle JéruSophie Christin-MaitreBruno FèveOlivier LascolsJacques BeltrandJean-Claude CarelCorinne VigourouxElise 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-VilarF 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 BensmaïneK BenomarS EspiardC VaheK Le MapihanG LionM LemdaniE ChazardO ErnstC VigourouxP PignyM-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 LattanziLorenzo MaggiDavid 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 CorvilloVerónica AparicioAlberto López-LeraSofía GarridoDavid Araújo-VilarMaría P de MiguelMargarita 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 BrownElif A OralElaine CochranDavid Araújo-VilarDavid B SavageAlison LongGregory FineTaylor SalinardiPhillip 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 BriandAnne-Claire GuénantinDorota JeziorowskaAkshay ShahMatthieu ManteconEmilie CapelMarie GarciaAnja OldenburgJonas PaulsenJean-Sebastien HulotCorinne VigourouxPhilippe 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 HussainNivedita PatniMasako UedaEkaterina SorkinaCynthia M ValerioElaine CochranRebecca J BrownJoseph PeedenYulia TikhonovichAnatoly TiulpakovSarah R S StenderElisabeth KloudaMarwan K TayehJeffrey W InnisAnders MeyerPriti LalAmelio F Godoy-MatosMilena G TelesBeverley Adams-HuetDaniel J RaderRobert A HegeleElif A OralAbhimanyu 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'ApicePaolo GaragnaniMarta ColumbaroGiuseppe NovelliClaudio FranceschiGiovanna 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 ChiquetteElif A OralAbhimanyu GargDavid Araújo-VilarPraveen 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 JeruCamille VatierMarie-Christine VantyghemOlivier LascolsCorinne 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 VatierL ArnaudX PrieurB GuyomarchC Le MayE BigotM PichelinA DaguenelM-C VantyghemJ-F GautierC VigourouxB 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 RochaDavid A BulgerAndrea FrontiniHannah TitheradgeSigrid Bjerge GribsholtRachel KnoxMatthew PageJulie HarrisFelicity PayneClaire AdamsAlison SleighJohn CrawfordAnette Prior GjesingJette Bork-JensenOluf PedersenInês BarrosoTorben HansenHelen CoxMary ReillyAlex RossorRebecca J BrownSimeon I TaylorDuncan McHaleMartin ArmstrongElif A OralVladimir SaudekStephen O'RahillyEamonn R MaherBjørn RichelsenDavid B SavageRobert 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 JéruCamille VatierDavid Araujo-VilarCorinne VigourouxOlivier 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 BrownDavid Araujo-VilarPik To CheungDavid DungerAbhimanyu GargMichelle JackLucy MungaiElif A OralNivedita PatniKristina I RotherJulia von SchnurbeinEkaterina SorkinaTakara StanleyCorinne VigourouxMartin WabitschRachel WilliamsTohru 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 CarreroElisabeth GabauGloria VelascoVíctor QuesadaClea BárcenaMarleen MoensKaren FieggenSilvia MöhrckenMartina OwensDiana A PuenteÓscar AsensioBart LoeysAna PérezValerie BenoitWim WuytsNicolas LévyRaoul C HennekamAnnachiara De Sandre-GiovannoliCarlos 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 JéruCamille VatierDavid Araujo-VilarCorinne VigourouxOlivier 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) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations  
Diabet Med. 2016 Oct; 33(10): 1445-50.
 
T DemirH OnayD B SavageE TemelogluA K UzumP KadiogluC AltayS OzenL DemirU CavdarB Akinci
 
PMID: 26756202

DOI:
10.1111/dme.13061  

https://pubmed.ncbi.nlm.nih.gov/26584826/  
One-year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes
 
Diabetes Obes Metab. 2016 Jul; 18(7): 693-7.  
C VatierS FetitaP BoudouC TchankouL DevilleJp RivelineJ YoungL MathivonF TravertD MorinJ CahenO LascolsF AndreelliY ReznikE MongeoisI MadelaineMc VantyghemJf GautierC Vigouroux  
PMID: 26584826
DOI: 10.1111/dom.12606

https://pubmed.ncbi.nlm.nih.gov/26701887/  
Barrier-to-autointegration factor (BAF) involvement in prelamin A-related chromatin organization changes
 
Oncotarget. 2016 Mar 29; 7(13): 15662-77.  
Manuela Loi
Vittoria CenniSerena DuchiStefano SquarzoniCarlos Lopez-OtinRoland FoisnerGiovanna LattanziCristina Capanni  
PMID: 26701887

PMCID:
PMC4941268
DOI:
10.18632/oncotarget.6697  

https://pubmed.ncbi.nlm.nih.gov/26724531/  
LMNA mutations resulting in lipodystrophy and HIV protease inhibitors trigger vascular smooth muscle cell senescence and calcification: Role of ZMPSTE24 downregulation  
Atherosclerosis. 2016 Feb; 245: 200-11.
 
Pauline AfonsoMartine AuclairFranck BoccaraMarie-Christine VantyghemChristine KatlamaJacqueline CapeauCorinne VigourouxMartine Caron-Debarle
  PMID: 26724531
DOI:
10.1016/j.atherosclerosis.2015.12.012

https://pubmed.ncbi.nlm.nih.gov/25864863/  
Lymphoma in acquired generalized lipodystrophy
 
Leuk Lymphoma. 2016; 57(1): 45-50.
 
Rebecca J BrownJean L ChanElaine S JaffeElaine CochranAlex M DePaoliJean-Francois GautierCecile GoujardCorinne VigourouxPhillip Gorden
 
PMID: 25864863

PMCID:
PMC4755279
DOI:
10.3109/10428194.2015.1040015

https://pubmed.ncbi.nlm.nih.gov/25524705/  
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy
 
Hum Mol Genet. 2015 Apr 1; 24(7): 2096-109.
 
Nathalie VadrotIsabelle Duband-GouletEva CabetWikayatou AttandaAlice BarateauPatrick VicartFabien GerbalNolwenn BriandCorinne VigourouxAnja R OldenburgEivind G LundPhilippe CollasBrigitte Buendia
 
PMID: 25524705

DOI:
10.1093/hmg/ddu728

https://pubmed.ncbi.nlm.nih.gov/24889630/  
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
 
Proc Natl Acad Sci U S A. 2014 Jun 17; 111(24): 8901-6.
 
Felicity PayneKoini LimAmandine GirousseRebecca J BrownNora KoryAnn RobbinsYali XueAlison SleighElaine CochranClaire AdamsArundhati Dev BormanDavid Russel-JonesPhillip GordenRobert K SempleVladimir SaudekStephen O'RahillyTobias C WaltherInês BarrosoDavid B Savage
 
PMID: 24889630

PMCID:
PMC4066527
DOI:
10.1073/pnas.1408523111  

https://pubmed.ncbi.nlm.nih.gov/23770608/  
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
 
Nat Genet. 2013 Aug; 45(8): 947-50.
 
Michael N WeedonSian EllardMarc J PrindleRichard CaswellHana Lango AllenRichard OramKoumudi GodboleChittaranjan S YajnikPaolo SbracciaGiuseppe NovelliPeter TurnpennyEmma McCannKim Jee GohYukai WangJonathan FulfordLaura J McCullochDavid B SavageStephen O'RahillyKatarina KosLawrence A LoebRobert K SempleAndrew T Hattersley
 
PMID: 23770608

PMCID: PMC3785143
DOI:
10.1038/ng.2670  

https://pubmed.ncbi.nlm.nih.gov/22238385/  
Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy
 
J Clin Endocrinol Metab. 2012 Mar; 97(3): E438-42.  
Alison SleighAnna StearsKerrie ThackrayLaura WatsonAlessandra GambineriSath NagV Irene CampiNadia SchoenmakersSoren BrageT Adrian CarpenterPeter R MurgatroydStephen O'RahillyGraham J KempDavid B Savage
 
PMID: 22238385
PMCID:
PMC3380089
DOI:
10.1210/jc.2011-2587  

https://pubmed.ncbi.nlm.nih.gov/21345103/  
Perilipin deficiency and autosomal dominant partial lipodystrophy
 
N Engl J Med. 2011 Feb 24; 364(8): 740-8.
 
Sheetal GandotraCaroline Le DourWilliam BottomleyPascale CerveraPhilippe GiralYves ReznikGuillaume CharpentierMartine AuclairMarc DelépineInês BarrosoRobert K SempleMark LathropOlivier LascolsJacqueline CapeauStephen O'RahillyJocelyne MagréDavid B SavageCorinne Vigouroux
 
PMID: 21345103
PMCID:
PMC3773916
DOI:
10.1056/NEJMoa1007487

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