Elkoush A, Giossi R, Gadaleta G, Maccabeo A, Pinna F, Palladino A, Giannotta M, Leone D, Colacicco G, Risi B, Gibertini S, Verriello L, Panicucci C, Bruno C, Pane M, Messina S, Rodolico C, Pini A, Vattemi G, Filosto M, Padovani A, Sansone VA, Carella MC, Forleo C, Tonin P, Fiorillo C, Politano L, Carboni N, Mongini T, Maggi L. X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study. J Neurol. 2026 Apr 28;273(5):293. doi: 10.1007/s00415-026-13834-w.
Semple RK, Wabitsch M, Akinci B, Alyaarubi S, Broekema MF, Brown RJ, Ceccarini G, Cecchetti C, Elsayed SM, Fernández-Pombo A, Gambineri A, Jazet IM, Kleinendorst L, Miehle K, Oral EA, Prodam F, Santini F, Savage DB, Ali NS, Sorkina E, Szopa M, Vantyghem MC, Vatier C, Vigouroux C, von Schnurbein J, Araújo-Vilar D. European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy. J Intern Med. 2026 Sep 1. doi: 10.1111/joim.70157. Online ahead of print
Sewerin S, Aurnhammer C, Hamed M, Revêchon G, Schönauer R, Findeisen C, Miehle K, Tesařo Vá Š, Georgomanolis T, Bergmann C, Wolff C, Kollár M, Akinci B, Araújo-Vilar D, Ceccarini G, Csajbók É, Gambineri A, Heni M, Scherer T, Štotl I, Sorkina E, Vantyghem MC, Vorona E, Wabitsch M, von Schnurbein J, Vatier C, Roume J, Reznik Y, Eriksson M, Antonin W, Vigouroux C, Halbritter J. The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype specific. JCI Insight. 2026 Jul 16;11(18):e192062. doi: 10.1172/jci.insight.192062. eCollection 2026 Sep 22.
Mattioli E, Cenni V, Sabatelli P, Schena E, Santi S, Fiorillo C, Bruno C, Pini A, Giannotta M, Cavallo M, Errani C, Cattin E, Benati D, Recchia A, Lattanzi G. Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cells. Cell Death Dis. 2026 May 12;17(1):615. doi: 10.1038/s41419-026-08819-6.PMID: 42120880 Free PMC article
ECLip Registry Consortium.Eur J Endocrinol. 2025 Oct 30;193(5):685-703. doi: 10.1093/ejendo/lvaf214.
Bagnato G, Peruzzi B. Lamins’ role in osteosarcoma. Front Cell Dev Biol. 2026 Mar 2;14:1783487. doi: 10.3389/fcell.2026.1783487. PMID: 41847386; PMCID: PMC12989583.
Ceccarini G, Gilio D, Magno S, Palladino L, Santini F. Lipodystrophy look-alikes: navigating diagnostic overlap with endocrine diseases. Eur J Endocrinol. 2026 Apr 30;194(5):R1-R16. doi: 10.1093/ejendo/lvag067.
Balakrishnan ID, Heymans ABM, Claggett B, Stewart GC, Seidman CE, Stroeks SLVM, Beelen NJ, Venner MFGHM, Owens AT, Day SM, Helms AS, Shore S, Wheeler MT, Fornaro A, Olivotto I, Mestroni L, Khan SS, Sinagra G, Merlo M, Rossano J, Lin KY, Stevenson LW, Tayal U, Taylor MRG, Wilsbacher LD, Prasad SK, Heymans SRB, Ho CY, Parikh VN, Verdonschot JAJ, Lakdawala NK. Atrial Fibrillation in Genotyped Dilated Cardiomyopathy: Epidemiology, Risk Factors, and Outcomes: Insights From the SHaRe Registry. Circ Heart Fail. 2026 Sep 10:e014322. doi: 10.1161/CIRCHEARTFAILURE.125.014322. Online ahead of print.PMID: 42717878
Villatore A, Sergianni E, Trezza AF, di Padova MA, Amman C, Fiorentino C, Favalli E, Rumore F, Della Bella P, Peretto G. Non-Dilated Left Ventricular Cardiomyopathy (NDLVC): A Name, Multiple Souls. Curr Cardiol Rep. 2026 Mar 31;28(1):43. doi: 10.1007/s11886-026-02370-8. PMID: 41915332
Villatore A, Fioravanti F, Barengo A, Sala S, Della Bella P, Peretto G. Ventricular fibrillation in early-stage cardiomyopathy: The loop of undetectable substrate of sudden cardiac death. Heart Rhythm. 2026 Jun;23(6):1300-1301. doi: 10.1016/j.hrthm.2025.06.022. Epub 2025 Jun 20. PMID: 40543856.
Neuromuscul Disord. 2025 Feb;47:105256. doi: 10.1016/j.nmd.2024.105256. Epub 2024 Nov 26.PMID: 39657283
Politano L. Females with X-Linked Muscle Disorders: an underestimated patient population.
Acta Myol. 2025 Mar;44(1):33-36. doi: 10.36185/2532-1900-1096.PMID: 40183439
Gilio D, Besci O, Guidorizzi NR, Guler MC, Simsir IY, Pelosini C, Ceccarini G, Demir K, Akinci B, Santini F; ECLip (European Consortium of Lipodystrophy); Foss-Freitas MC, Oral EA. Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome. Clin Endocrinol (Oxf). 2025 Oct;103(4):504-512. doi: 10.1111/cen.15303. Epub 2025 Jul 16.
Bellisario I, Aimo A, Todiere G, Alderotti B, Gueli IA, Grigoratos C, Ricci F, De Gori C, Muca M, Botto N, Vittorini S, Gallina S, Passino C, Emdin M, Clemente A, Barison A. Dilated cardiomyopathy vs. non-dilated left ventricular dysfunction: genotype-phenotype relationship and outcome. Int J Cardiol. 2026 Jun 1;452:134272. doi: 10.1016/j.ijcard.2026.134272. Epub 2026 Mar 3.
Capovilla TM, Iseppi M, Distaso S, Gigli M, Dal Ferro M, Moretti M, Iorio A, Mancinelli A, Merlo M, Mestroni L, Paldino A, Sinagra G. Twenty-Five-Year Follow-Up of the MDDC1 Family: A LMNA Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement. Circ Genom Precis Med. 2026 Apr;19(2):e005528. doi: 10.1161/CIRCGEN.125.005528. Epub 2026 Apr 1. PMID: 41919383; PMCID: PMC13102345.
Cipressa F, Pennarun G, Bosso G, Rosignoli S, Tullo L, Schiralli N, Di Dio C, Borghi C, Paiardini A, Esposito G, Goldberg ML, Bertrand P, Cenci G. An evolutionarily conserved role for separase in the regulation of nuclear lamins. Cell Death Discov. 2025 Oct 21;11(1):475.doi: 10.1038/s41420-025-02758-5. Erratum in: Cell Death Discov. 2026 Jan 28;12(1):73. doi: 10.1038/s41420-025-02938-3. PMID: 41120332; PMCID: PMC12540686.
CORRECTION Cipressa F, Pennarun G, Bosso G, Rosignoli S, Tullo L, Schiralli N, Di Dio C, Borghi C, Paiardini A, Esposito G, Goldberg ML, Bertrand P, Cenci G. Correction: An evolutionarily conserved role for separase in the regulation of nuclear lamins. Cell Death Discov. 2026 Jan 28;12(1):73. doi: 10.1038/s41420-025-02938-3. Erratum for: Cell Death Discov. 2025 Oct 21;11(1):475. doi: 10.1038/s41420-025-02758-5. PMID: 41605896; PMCID: PMC12852102.
Foglini C, Scotlandi K, Pasello M. Lamin A/C as a Molecular Link Between Nuclear Organization, Chromatin Dynamics, and Tumor Progression. Cells. 2026 Mar 11;15(6):501. doi: 10.3390/cells15060501. PMID: 41892292; PMCID: PMC13024949.
Guaricci AI, Faggiano A, Wahbi K, Barriales-Villa R, Carella MC, Carugo S, Christensen AH, Forleo C, Gherbesi E, Haugaa KH, Merlo M, Larrañaga-Moreira JM, Mushtaq S, Novelli V, Peretto G, Resta N, Rootwelt-Norberg C, Ben Yaou R, Ciccone MM, Sinagra G, Pontone G. Cardiovascular prognostic impact of missense vs nonmissense lamin A/C variants: A systematic review and meta-analysis. Heart Rhythm. 2026 May;23(5):e782-e791. doi: 10.1016/j.hrthm.2025.12.038. Epub 2026 Jan 5. PMID: 41500486.
Lambertini E, Penolazzi L, Chierici A, Nadalini R, Sief C, Begnozzi F, Bonora M, Pinton P, Bianchini C, di Virgilio F, Piva R. Participation of the purinergic P2X7 receptor in molecular complexes in the nucleus of human chondrocytes. Cell Mol Life Sci. 2026 Jun 17;83(1):319. doi: 10.1007/s00018-026-06274-2. PMID: 42307773; PMCID: PMC13534410.
Lionetti V. Beyond the cardiomyocyte: the endothelial connection to fibrosis in LMNA cardiomyopathy. Eur Heart J. 2026 Aug 21:ehag638. doi: 10.1093/eurheartj/ehag638. Epub ahead of print. PMID: 42625521.
Magno S, Pelosini C, Paoli M, Gilio D, Palladino L, Menconi F, Barison A, Todiere G, Ortori S, Coco B, Paolucci G, Salvetti G, Sessa MR, Ceccarini G, Santini F. Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum. Front Endocrinol (Lausanne). 2026 Mar 4;17:1725771. doi: 10.3389/fendo.2026.1725771. PMID: 41858864; PMCID: PMC12997130.
Mengistu DY, Marzullo M, Pellacani C, Marchetti M, Terribili M, Montivero Morales E, Somma MP, Ciapponi L. Microcephaly-associated genes asp and Sas4 influence chromatin organization and nuclear lamina structure in Drosophila melanogaster. Development. 2026 May 15;153(10):dev205125. doi: 10.1242/dev.205125. Epub 2026 May 26. PMID: 42063344; PMCID: PMC13286369.
Mengistu DY, Marzullo M, Pellacani C, Marchetti M, Terribili M, Montivero Morales E, Somma MP, Ciapponi L. Microcephaly-associated genes asp and Sas4 influence chromatin organization and nuclear lamina structure in Drosophila melanogaster. Development. 2026 May 15;153(10):dev205125. doi: 10.1242/dev.205125. Epub 2026 May 26. PMID: 42063344; PMCID: PMC13286369
Rack JGM, Prokhorova E, Lauro R, Kopasz AG, Baretić D, Raggiaschi R, Mutabdzija J, Filippov DV, Timinszky G, Leidecker O, Ahel I, Palazzo L. Histidine and tyrosine residues are targets for SIRT6 ADP-ribosylation activity. Open Biol. 2026 Mar 4;16(3):250181. doi: 10.1098/rsob.250181. PMID: 41784402.
Shahzaib M, Aprile D, Squillaro T, Alessio N, Peluso G, Di Bernardo G, Galderisi U. The interactome era: Integrating RNA-seq, proteomics, and network biology to decode cellular senescence. Ageing Res Rev. 2026 Jan;113:102916. doi: 10.1016/j.arr.2025.102916. Epub 2025 Oct 11. PMID: 41083024.
Tetaj N, Segreti A, Piccirillo F, Ferro A, Ligorio V, Spagnolo A, Pelullo M, Crispino SP, Grigioni F. AI-Enabled Sensor Technologies for Remote Arrhythmic Monitoring in High-Risk Cardiomyopathy Genotypes. Sensors (Basel). 2026 Mar 26;26(7):2078. doi: 10.3390/s26072078. PMID: 41977862; PMCID: PMC13075123. (Review)
Tetaj N, Segreti A, Ferro A, Ligorio V, Spagnolo A, Grigioni F. High-Risk Cardiomyopathy Genotypes and Arrhythmic Risk: LMNA, FLNC, RBM20, PLN and Desmosomal Genes in the ESC 2023 Era. Genes (Basel). 2026 Mar 25;17(4):370. doi: 10.3390/genes17040370. PMID: 42074488; PMCID: PMC13116171. (Review)
Magno S, Pelosini C, Paoli M, Gilio D, Palladino L, Menconi F, Barison A, Todiere G, Ortori S, Coco B, Paolucci G, Salvetti G, Sessa MR, Ceccarini G, Santini F. Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum. Front Endocrinol (Lausanne). 2026 Mar 4;17:1725771. doi: 10.3389/fendo.2026.1725771. eCollection 2026.PMID: 41858864 Free PMC article.
Torfs T, Veltrop RJA, Lezzoche G, Heymans SRB, Verdonschot JAJ, Nabben M. Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health. Heart Fail Rep. 2026 Feb 2;23(1):6. doi: 10.1007/s11897-025-00735-8.PMID: 41627535 Free PMC article.
Guaricci AI, Faggiano A, Wahbi K, Barriales-Villa R, Carella MC, Carugo S, Christensen AH, Forleo C, Gherbesi E, Haugaa KH, Merlo M, Larrañaga-Moreira JM, Mushtaq S, Novelli V, Peretto G, Resta N, Rootwelt-Norberg C, Ben Yaou R, Ciccone MM, Sinagra G, Pontone G.Cardiovascular prognostic impact of missense vs nonmissense lamin A/C variants: A systematic review and meta-analysis. Heart Rhythm. 2026 Jan 5:S1547-5271(26)00004-4. doi: 10.1016/j.hrthm.2025.12.038. Online ahead of print.PMID: 41500486
van der Wilt CN, Veltrop RJA, Janssens MH, Bakker I, Stillitano F, Sluijter JPG, van Laake LW, van der Velden J, Villard E, Montag J, Denning C, van Tintelen JP, Te Riele ASJM, van der Harst P, Schurgers LJ, van Steenbeek FG, Harakalova M. Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research. Eur Heart J Open. 2025 Dec 3;6(1):oeaf161. doi: 10.1093/ehjopen/oeaf161. eCollection 2026 Jan.PMID: 41536960 Free PMC article.
Cattin E, Schena E, Mattioli E, Marcuzzo S, Bonanno S, Cavalcante P, Corradi F, Benati D, Farinazzo G, Cattaneo M, De Sanctis V, Bertorelli R, Maggi L, Giannotta M, Pini A, Vattemi G, Cassandrini D, Cavallo M, Manferdini C, Lisignoli G, Fontana B, Pace I, Bruno C, Roncarati R, Fiorillo C, Ferracin M, Schirmer EC, Recchia A, Lattanzi G. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.Cells. 2025 Aug 27;14(17):1321. doi: 10.3390/cells14171321.PMID: 40940734 Free PMC article.
Wang B, Kronenberg-Tenga R, Rosti V, Di Patrizio Soldateschi E, Luo Q, Iannacchero UM, Pinet L, Eibauer M, Boujemaa-Paterski R, Schuler B, Lanzuolo C, Medalia O. The molecular basis of lamin-specific chromatin interactions. Nat Struct Mol Biol. 2025 Aug 1. doi: 10.1038/s41594-025-01622-5.
Vatier C, Araújo-Vilar D, Akinci B, Arnould T, Beaupère C, Bismuth E, Brown RJ, Ceccarini G, Collas P, Gambineri A, Gilio D, Halperin S, Janmaat S, Lamothe S, Lattanzi G, Maffei M, MacDougald OA, Mosbah H, Nobecourt E, Oral EA, Rochford J, Santini F, Schirmer EC, von Schnurbein J, Semple R, Tews D, Wabitsch M, Vantyghem MC, Vigouroux C. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025. Ann Endocrinol (Paris). 2025 Jul 30;86(5):102432. doi: 10.1016/j.ando.2025.102432.
Mitra A, Cutiongco MFA, Burla R, Zeng Y, Na Q, Kong M, Vinod B, Nai MH, Hübner B, Ludwig A, Lim CT, Shivashankar GV, Saggio I, Zhao W.Acute chromatin decompaction stiffens the nucleus as revealed by nanopillar-induced nuclear deformation in cells. Proc Natl Acad Sci U S A. 2025 May 13;122(19):e2416659122. doi: 10.1073/pnas.2416659122.
Gilio D, Besci O, Guidorizzi NR, Guler MC, Simsir IY, Pelosini C, Ceccarini G, Demir K, Akinci B, Santini F. Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome. ECLip (European Consortium of Lipodystrophy); Foss-Freitas MC, Oral EA.Clin Endocrinol (Oxf). 2025 Oct;103(4):504-512. doi: 10.1111/cen.15303.
Schena E, Pini A, Cavalcante P, Siciliano G, Ricci G. Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies. Acta Myol. 2025 Jun;44(2):73-76. doi: 10.36185/2532-1900-1126.
Cattin E, Schena E, Mattioli E, Marcuzzo S, Bonanno S, Cavalcante P, Corradi F, Benati D, Farinazzo G, Cattaneo M, De Sanctis V, Bertorelli R, Maggi L, Giannotta M, Pini A, Vattemi G, Cassandrini D, Cavallo M, Manferdini C, Lisignoli G, Fontana B, Pace I, Bruno C, Roncarati R, Fiorillo C, Ferracin M, Schirmer EC, Recchia A, Lattanzi G. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts. Cells. 2025 Aug 27;14(17):1321. doi: 10.3390/cells14171321.
Peretto G, Villatore A, Bosco L, Porro P, Strano CMM, Sorrenti B, Sista A, Ceres P, Mocetti C, Cecere A, Cione G, Carrera P, Esposito A, Della Bella P, Previtali SC, Di Resta C, Sala S. Multidisciplinary Screening of a Novel Founder LMNA Mutation Associated With Cardiomyopathy in a Geographic Isolate. JACC Heart Fail. 2025 Jul 14;13(9):102567. doi: 10.1016/j.jchf.2025.102567. PMID: 40664144
Krüger P, Schroll M, Fenzl FQ, Hartinger R, Lederer EM, Görlach A, Gordon LB, Cavalcante P, Iacomino N, Rathkolb B, Pimentel JAA, Östereicher M, Spielmann N, Wolf CM, de Angelis MH,Djabali K. Baricitinib and Lonafarnib Synergistically Target Progerin and Inflammation, Improving Lifespan and Health in Progeria Mice. Int J Mol Sci. 2025 May 19;26(10):4849. doi: 10.3390/ijms26104849.PMID: 40429989 Free PMC article.
Politano L. Females with X-Linked Muscle Disorders: an underestimated patient population. Acta Myol. 2025 Mar;44(1):33-36. doi: 10.36185/2532-1900-1096.PMID: 40183439 Free PMC article. Review.
Brown RJ, Akinci B, Yosef M, Phillips H, Khalatbari S, Sorkina E, Santini F, Vigouroux C, Brush M, Meral R, Ceccarini G, Zeybel M, Prodam F, von Schnurbein J, Sorice GP, Guler MC, Patni N, Tanrikulu S, Alyaarubi S, Ozgen BS, Foss-Freitas MC, Ozisik S, Segrestin B, Ozcan B, Adiyaman SC, Musolino G, Sekizkardes H, Musso C, Lebenthal Y, Ozen S, Simha V, Simsir IY, Stears A, Scherer T, Gambineri A, Lima JG, Semple R, Wabitsch M, Araujo-Vilar D, Hegele RA, Oral EA. Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy. J Clin Endocrinol Metab. 2025 Feb 19:dgaf103. doi: 10.1210/clinem/dgaf103.
Santovito LS, Bonanno S, Pasanisi MB, Gallone A, Ricci F, Tramacere I, Zanin R, Previtali SC, Maggi L. Natural history of skeletal muscle laminopathies: a 2-year prospective study. Neuromuscul Disord. 2025 Feb;47:105256. doi: 10.1016/j.nmd.2024.105256. Epub 2024 Nov 26. PMID: 39657283
Topriceanu CC, Al-Farih M, Joy G, Chan F, Webber M, Ilie-Ablachim DC, Shiwani H, Tamang M, Banks C, Pettit S, Petersen SE, O’Brien B, Hughes AD, Pierce I, Moody WE, Steeds RP, Puddu PE, Kellman P, Savvatis K, Mohiddin S, Moon JC, Barison A, Piras P, Captur G. The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease. JACC Cardiovasc Imaging. 2025 Jun;18(6):644-660. doi: 10.1016/j.jcmg.2025.01.004. Epub 2025 May 14.PMID: 40372342 Free article.
Forleo C, Carella MC, Basile P, Carulli E, Dadamo ML, Amati F, Loizzi F, Sorrentino S, Dentamaro I, Dicorato MM, Ricci S, Bagnulo R, Iacoviello M, Santobuono VE, Caiati C, Pepe M, Desaphy JF, Ciccone MM, Resta N, Guaricci AI. Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience. Biomedicines. 2024 Jun 11;12(6):1293. doi: 10.3390/biomedicines12061293. PMID: 38927500
Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E. Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. Cells. 2024 Jan 16;13(2):162. doi: 10.3390/cells13020162.
Lattanzi G, Lanzuolo C, Cugudda E, Maggi L, Politano L, Santiago-Fernández O, Ricci G, Squarzoni S, Lopez-Otin C; Italian Network for Laminopathies. Aging research from bench to bedside and beyond: What we learned from Sammy Basso. Aging Cell. 2024 Dec; 23(12):e14414. doi: 10.1111/acel.14414. PMID: 39663551 Free PMC article.
Petrini S, Bagnato G, Piccione M, D’Oria V, Apollonio V, Cappa M, Castiglioni C, Santorelli FM, Rizza T, Carrozzo R, Bertini ES, Peruzzi B. Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells. Int J Mol Sci. 2024 Dec 13;25(24):13365. doi: 10.3390/ijms252413365. PMID: 39769130 Free PMC article.
La Torre M, Burla R, Saggio I. Preserving Genome Integrity: Unveiling the Roles of ESCRT Machinery. Cells. 2024 Aug 5;13(15):1307. doi: 10.3390/cells13151307. PMID: 39120335
Ceccarini G, Pelosini C, Paoli M, Tyutyusheva N, Magno S, Gilio D, Palladino L, Sessa MR, Bertelloni S, Santini F. Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa. J Endocrinol Invest. 2024 Aug;47(8):1881-1886. doi: 10.1007/s40618-024-02308-3.
Garcia-Pavia P, Palomares JFR, Sinagra G, Barriales-Villa R, Lakdawala NK, Gottlieb RL, Goldberg RI, Elliott P, Lee P, Li H, Angeli FS, Judge DP, MacRae CA; REALM-DCM Investigators. REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic LMNA-Related Dilated Cardiomyopathy. Circ Heart Fail. 2024 Jul;17(7):e011548. doi: 10.1161/CIRCHEARTFAILURE.123.011548.
Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E. Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery- Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. Cells. 2024 Jan 16;13(2):162. doi: 10.3390/cells13020162. PMID: 38247853 Free PMC article.
Ceccarini G, Akinci B, Araujo-Vilar D, Beghini M, Brown RJ, Carrion Tudela J, Corradin V, Donadille B, Jerez Ruiz J, Jeru I, Lattanzi G, Maffei M, McIlroy GD, Nobécourt E, Perez de Tudela N, Rochford JJ, Sanders R, von Schnurbein J, Tews D, Vantyghem MC, Vatier C, Vigouroux C, Santini F. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023. Ann Endocrinol (Paris). 2024 Jul; 85(4): 308-316. doi: 10.1016/j.ando.2024.03.002. Epub 2024 Mar 5. PMID: 38452868
Schena E, Mattioli E, Peres C, Zanotti L, Morselli P, Iozzo P, Guzzardi MA, Bernardini C, Forni M, Nesci S, Caprio M, Cecchetti C, Pagotto U, Gabusi E, Cattini L, Lisignoli G, Blalock W, Gambineri A, Lattanzi G. Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction. Cells. 2023 Nov 7;12(22):2586. doi: 10.3390/cells12222586.
Maggi L, Quijano-Roy S, Bönnemann C, Bonne G; 253rd ENMC international workshop: Striated muscle laminopathies – natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, the Netherlands. Neuromuscul Disord. 2023;33(6):498-510. doi: 10.1016/j.nmd.2023.04.009. Epub 2023 Apr 25.PMID: 37235886
Panicucci C, Casalini S, Traverso M, Brolatti N, Baratto S, Raffaghello L, Pedemonte M, Doglio L, Derchi M, Tasca G, Damasio BM, Fiorillo C, Bruno C. Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1. Neuropediatrics. 2023 Dec;54(6):426-429. doi: 10.1055/s-0043-1768989. Epub 2023 May 31.PMID: 37257496
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D’Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G . International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075.