Basic and Translational Myology
Selected publications
1) Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot M-C, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy J-P, Marcorelles P, Dubourg O, Ferreiro A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis and its deficiency causes a novel form of congenital muscle disease. Hum Mol Genet. 2016; 25 (8) : 1559-73. (Abstract)
2) Charrier E, Asnacios A, Milloud R, De Mets R, Balland M, Delort F, Cardoso O, Vicart P, Batonnet-Pichon S, Hénon S. Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts. Biophys J. 2016 Jan 19;110(2):470-80. (Abstract)
3) Vadrot N, Duband-Goulet I, Cabet E, Attanda W, Barateau A, Vicart P, Gerbal F, Briand N, Vigouroux C, Oldenburg AR, Lund EG, Collas P, Buendia B. The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2015;24(7):2096-109. (Abstract)
4) Lund E, Oldenburg AR, Delbarre E, Freberg CT, Duband-Goulet I , Eskeland R, Buendia B, Collas P. Lamin A/C promoter interactions specify chromatin state-dependent transcription outcomes. Genome Res. 2013;23(10):1580-9. (Abstract)
5) Cabet E, Batonnet-Pichon S, Delort F, Gausserès B, Vicart P, Lilienbaum A. Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy. PLoS One. 2015 Sep 2;10(9):e0137009. (Abstract)
Publications in peer-reviewed journals (since 2017)
** Publications shared with other teams of BFA.
Quartiles as from Scimago Journal & Country Rank are reported at the end of each publication.
Original articles
2024
Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Calì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E. SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA. Cell Rep Med. 2024 Feb 19:101439. (Q1)
2023
Voermans NC, Ferreiro A, Aartsema-Rus A, Jungbluth H. Gene therapy for X-linked myotubular myopathy: the challenges. Lancet Neurol. 2023 Dec;22(12):1089-1091. Erratum in: Lancet Neurol. 2024 Feb;23(2):e2. PMID: 37977700. (Q1)
Lima TI, Laurila PP, Wohlwend M, Morel JD, Goeminne LJE, Li H, Romani M, Li X, Oh CM, Park D, Rodríguez-López S, Ivanisevic J, Gallart-Ayala H, Crisol B, Delort F, Batonnet-Pichon S, Silveira LR, Sankabattula Pavani Veera Venkata L, Padala AK, Jain S, Auwerx J. Inhibiting de novo ceramide synthesis restores mitochondrial and protein homeostasis in muscle aging. Sci Transl Med. 2023 May 17;15(696):eade6509. (Q1)
Breukel A, Willmann R, Adcock K, Méjat A, Meijer I, Ferreiro A. The European Neuromuscular Centre has celebrated its 30th anniversary! Neuromuscul Disord. 2023 Mar;33(3):285-287. (Q2)
Bargui R, Solgadi A, Dumont F, Prost B, Vadrot N, Filipe A, Ho ATV, Ferreiro A, Moulin M. Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy. Biomedicines. 2023 Jan 17;11(2):234. (Q1)
Vadrot N, Ader F, Moulin M, Merlant M, Chapon F, Gandjbakhch E, Labombarda F, Maragnes P, Réant P, Rooryck C, Probst V, Donal E, Richard P, Ferreiro A, Buendia B. Abnormal Cellular Phenotypes Induced by Three <i>TMPO</i>/LAP2 Variants Identified in Men with Cardiomyopathies. Cells. 2023 Jan 16;12(2):337. (Q1)
2022
Nagle I., Delort F., Hénon S., Wilhelm C., Batonnet-Pichon S., Reffay M. Multiparameters dependance of tissue shape maintenance in myoblasts multicellular aggregates: the role of intermediate filaments disorganization. Elife accepted 30 nov. 2022 (Q1)
Hakibilen C., Delort F., Daher M.T., Joanne P., Cabet E., Cardoso O., Bourgois-Rocha F., Tian C., Rivas E., Madruga M., Ferreiro A., Lilienbaum A., Vicart P., Agbulut O., Hénon S. and Batonnet-Pichon S. Desmin modulates muscle cell adhesion and migration. Front Cell Dev Biol. 2022 Mar 8;10:783724. (Q1)
Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Metay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes M-C, Quijano Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. Long reads sequencing strategy to localize variants in TTN repeated domains. The Journal of Molecular Diagnostics 2022:S1525-1578(22)00131-3. (Q1)
2021
Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course. Acta Neuropathol Commun. 2021 Sep 17;9(1):155. (Q1)
**Lizarralde-Iragorri MA, Lefevre SD, Cochet S, El Hoss S, Brousse V, Filipe A, Dussiot M, Azouzi S, Le Van Kim C, Rodrigues-Lima F, Français O, Le Pioufle B, Klei T, van Bruggen R, El Nemer W. Oxidative stress activates red cell adhesion to laminin in sickle cell disease. Haematologica. 2021 Sep 1;106(9):2478-2488. (Q1)
Joanne P, Hovhannisyan Y, Bencze M, Daher MT, Parlakian A, Toutirais G, Gao- Li J, Lilienbaum A, Li Z, Kordeli E, Ferry A, Agbulut O. Absence of Desmin Results in Impaired Adaptive Response to Mechanical Overloading of Skeletal Muscle. Front Cell Dev Biol. 2021 Jul 15;9:662133. (Q1)
Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies. J Neuromuscul Dis. 2021;8(4):633-645. (Q1)
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathol. 2021 Mar;141(3):431-453. (Q1)
Olivé M, Winter L, Fürst DO, Schröder R; ENMC workshop study group. 246th ENMC International Workshop: Protein aggregate myopathies 24-26 May 2019, Hoofddorp, The Netherlands. Neuromuscul Disord. 2021 Feb;31(2):158-166. (Q1)
2020
Herrmann H, Cabet E, Chevalier NR, Moosmann J, Schultheis D, Haas J, Schowalter M, Berwanger C, Weyerer V, Agaimy A, Meder B, Müller OJ, Katus HA, Schlötzer-Schrehardt U, Vicart P, Ferreiro A, Dittrich S, Clemen CS, Lilienbaum A, Schröder R. Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice. Circulation. 2020 Oct 7. (Q1)
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Genotype-phenotype correlations in recessive titinopathies. Genet Med. 2020 Aug 11. (Q1)
**Filipe A, Chernorudskiy A, Arbogast S, Varone E, Villar-Quiles RN, Pozzer D, Moulin M, Fumagalli S, Cabet E, Dudhal S, De Simoni MG, Denis R, Vadrot N, Dill C, Giovarelli M, Szweda L, De Palma C, Pinton P, Giorgi C, Viscomi C, Clementi E, Missiroli S, Boncompagni S, Zito E, Ferreiro A. Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy. Cell Death Differ. 2020 Jul 13. (Q1)
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. Neurology. 2020 Sep 15;95(11):e1512-e1527. (Q1)
Neuhaus SB, Wallgren-Pettersson C, Bönnemann CG, Schara U, Servais L; nemaline working group. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. Neuromuscul Disord. 2020 Oct;30(10):866-875. (Q1)
Villar-Quiles RN, Gomez-Garcia de la Banda M, Barois A, Bouchet-Séraphin C, Romero NB, Rio M, Quijano-Roy S, Ferreiro A. Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy. J Neuromuscul Dis. 2020;7(1):69-76. (Q1)
Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol. 2020 Feb;87(2):217-232. (Q1)
Ferry A, Messéant J, Parlakian A, Lemaitre M, Roy P, Delacroix C, Lilienbaum A, Hovhannisyan Y, Furling D, Klein A, Li Z, Agbulut O. Desmin prevents muscle wasting, exaggerated weakness and fragility, and fatigue in dystrophic mdx mouse. J Physiol. 2020 Sep;598(17):3667-3689. (Q1)
2019
Delort F, Segard BD, Hakibilen C, Bourgois-Rocha F, Cabet E, Vicart P, Huang ME, Clary G, Lilienbaum A, Agbulut O, Batonnet-Pichon S. Alterations of redox dynamics and desmin post-translational modifications in skeletal muscle models of desminopathies. Exp Cell Res. 2019 Oct 15;383(2):111539. (Q1)
Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy. Ann Neurol. 2019 Dec 3. (Q1)
Morgan J, Butler-Browne G, Muntoni F, Patel K; skeletal muscle stem cells involvement in pathology study group. 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands. Neuromuscul Disord. 2019 Sep;29(9):704-715. (Q1)
Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation. 2019 Jul 23;140(4):293-302. (Q1)
Varone E, Pozzer D, Di Modica S, Chernorudskiy A, Nogara L, Baraldo M, Cinquanta M, Fumagalli S, Villar-Quiles RN, De Simoni MG, Blaauw B, Ferreiro A, Zito E. SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance. Redox Biol. 2019 Jun;24:101176. (Q1)
2018
Samson C, Petitalot A, Celli F, Herrada I, Ropars V, Le Du MH, Nhiri N, Jacquet E, Arteni AA, Buendia B, Zinn-Justin S. Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases. Nucleic Acids Res. 2018 Nov 2;46(19):10460-10473. (Q1)
Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity. Eur Radiol. 2018 Dec;28(12):5293-5303. (Q1)
Charrier E, Montel L, Asnacios A, Delort F, Vicart P, Gallet F, Batonnet-Pichon S, Hénon S. The desmin network is a determinant of the cytoplasmic stiffness of myoblasts. Biol Cell. 2018 Apr;110(4):77-90. (Q1)
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O’Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 Jun;83(6):1105-1124. (Q1)
Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B. Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. Eur J Neurol. 2018 May;25(5):790-794. (Q1)
2017
Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B. Diaphragmatic dysfunction in SEPN1-related myopathy. Neuromuscul Disord. 2017 Aug;27(8):747-755. (Q1)
Hackman P, Udd B, Bönnemann CG, Ferreiro A; Titinopathy Database Consortium. 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April-1 May 2016. Neuromuscul Disord. 2017 Apr;27(4):396-407. (Q1)
Even C, Abramovici G, Delort F, Rigato AF, Bailleux V, de Sousa Moreira A, Vicart P, Rico F, Batonnet-Pichon S, Briki F. Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity. Biophys J. 2017 Aug 8;113(3):627-636. (Q1)
Barateau A, Vadrot N, Agbulut O, Vicart P, Batonnet-Pichon S, Buendia B. Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient. Cells. 2017 Apr 24;6(2). (Q1)
Barateau A, Vadrot N, Vicart P, Ferreiro A, Mayer M, Héron D, Vigouroux C, Buendia B. A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. PLoS One. 2017 Jan 26;12(1):e0169189. (Q1)
Paulsen J, Sekelja M, Oldenburg AR, Barateau A, Briand N, Delbarre E, Shah A, Sørensen AL, Vigouroux C, Buendia B, Collas P. Chrom3D: three-dimensional genome modeling from Hi-C and nuclear lamin-genome contacts. Genome Biol. 2017 Jan 30;18(1):21. (Q1)
Reviews
Paulin D, Lilienbaum A, Kardjian S, Agbulut O, Li Z. Vimentin: Regulation and pathogenesis. Biochimie. 2022 Jun;197:96-112. doi: 10.1016/j.biochi.2022.02.003.
Bargui R, Solgadi A, Prost B, Chester M, Ferreiro A, Piquereau J, Moulin M. Phospholipids: Identification and Implication in Muscle Pathophysiology. Int J Mol Sci. 2021 Jul 30;22(15):8176. doi: 10.3390/ijms22158176. PMID: 34360941; PMCID: PMC8347011.
Meunier J, Villar-Quiles RN, Duband-Goulet I, Ferreiro A. Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases. Int J Mol Sci. 2021 Jun 3;22(11):6039. doi: 10.3390/ijms22116039. PMID: 34204919; PMCID: PMC8199739.
Zito E, Ferreiro A. Calcium and Redox Liaison: A Key Role of Selenoprotein N in Skeletal Muscle. Cells. 2021 May 6;10(5):1116. doi: 10.3390/cells10051116. PMID: 34066362; PMCID: PMC8148124.
Boncompagni S, Pozzer D, Viscomi C, Ferreiro A, Zito E. Physical and Functional Cross Talk Between Endo-Sarcoplasmic Reticulum and Mitochondria in Skeletal Muscle. Antioxid Redox Signal. 2020 Apr 20;32(12):873-883. doi: 10.1089/ars.2019.7934. Epub 2019 Dec 11. PMID: 31825235.
Ferreiro A. Early-onset myopathies: Entering a new age. Semin Cell Dev Biol. 2017 Apr;64:158-159.
Batonnet-Pichon S, Behin A, Cabet E, Delort F, Vicart P, Lilienbaum A. Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches. J Neuromuscul Dis. 2017;4(1):1-15.
Moulin M, Ferreiro A. Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies. Semin Cell Dev Biol. 2017 Apr;64:213-223.
Jagla K, Kalman B, Boudou T, Hénon S, Batonnet-Pichon S. Beyond mice: Emerging and transdisciplinary models for the study of early-onset myopathies. Semin Cell Dev Biol. 2017 Apr;64:171-180.
Ferreiro A, Andoni Urtizberea J. [Titin-related muscle disorders: an expanding spectrum]. Med Sci (Paris). 2017 Nov;33 Hors série n°1:16-26.
