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Page 1
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Fernández-Eulate G, Gitiaux C, Thiele S, Jungbluth H, Potulska-Chromik A, Marini-Bettolo C, Davion JB, Morís G, Gallardo E, Olivé M, de la Hoz CPF, Audic F, Isapof A, Walter MC, Angelini C, Bertini E, Schara-Schmidt U, Claeys KG, Dohrn MF, Dembele M, Fer F, Brochier G, Evangelista T, Kostera-Pruszczyk A, Attarian S, Straub V, Dominguez-Gonzalez C, Vissing J, Richard P, Metay C, Khraiche D, Wahbi K, Stojkovic T. Fernández-Eulate G, et al. Brain. 2025 Jun 10:awaf223. doi: 10.1093/brain/awaf223. Online ahead of print. Brain. 2025. PMID: 40493734
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Cortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Pisciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli PJ, Fernandez-Eulate G, Haddad S, Laurà M, Rossor AM, Vegezzi E, Facchini S, Sleigh JN, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice HF, Achenbach P, Schöne U, Alon T, Deschauer M, Cordts I, Obermaier CD, Winter N, Creigh PD, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt JKL, Brennan KM, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar KR, Kennerson ML, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali SC, Lee YC, Başak AN, Hamed SA, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Züchner S. Cortese A, et al. Among authors: fernandez eulate g. Brain. 2025 Feb 13:awaf021. doi: 10.1093/brain/awaf021. Online ahead of print. Brain. 2025. PMID: 39938083
Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.
Bui MT, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Böhm J, Romero NB. Bui MT, et al. Among authors: fernandez eulate g. Acta Neuropathol Commun. 2024 Dec 20;12(1):191. doi: 10.1186/s40478-024-01882-0. Acta Neuropathol Commun. 2024. PMID: 39707553 Free PMC article.
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. Bahout M, et al. Among authors: fernandez eulate g. J Neurol Neurosurg Psychiatry. 2025 Apr 10;96(5):453-461. doi: 10.1136/jnnp-2024-334263. J Neurol Neurosurg Psychiatry. 2025. PMID: 39448255 Free PMC article.
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: fernandez eulate g. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.
Launay N, Espinosa-Alcantud M, Verdura E, Fernández-Eulate G, Ondaro J, Iruzubieta P, Marsal M, Schlüter A, Ruiz M, Fourcade S, Rodríguez-Palmero A, Zulaica M, Sistiaga A, Labayru G, Loza-Alvarez P, Vaquero A, Lopez de Munain A, Pujol A. Launay N, et al. Among authors: fernandez eulate g. Aging Cell. 2025 Jan;24(1):e14355. doi: 10.1111/acel.14355. Epub 2024 Oct 16. Aging Cell. 2025. PMID: 39412222 Free PMC article.
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.
Zufiría M, Pikatza-Menoio O, Garciandia-Arcelus M, Bengoetxea X, Jiménez A, Elicegui A, Levchuk M, Arnold-García O, Ondaro J, Iruzubieta P, Rodríguez-Gómez L, Fernández-Pelayo U, Muñoz-Oreja M, Aiastui A, García-Verdugo JM, Herranz-Pérez V, Zulaica M, Poza JJ, Ruiz-Onandi R, Fernández-Torrón R, Espinal JB, Bonilla M, Lersundi A, Fernández-Eulate G, Riancho J, Vallejo-Illarramendi A, Holt IJ, Sáenz A, Malfatti E, Duguez S, Blázquez L, López de Munain A, Gerenu G, Gil-Bea F, Alonso-Martín S. Zufiría M, et al. Among authors: fernandez eulate g. Acta Neuropathol. 2024 Sep 16;148(1):43. doi: 10.1007/s00401-024-02794-y. Acta Neuropathol. 2024. PMID: 39283487 Free PMC article.
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P, Theuriet J, Nadaj-Pakleza A, Magot A, Lannes B, Marcorelles P, Behin A, Masingue M, Caillon F, Malek Y, Fenouil T, Bas J, Menassa R, Michel-Calemard L, Streichenberger N, Simon JP, Bouhour F, Evangelista T, Métay C, Pegat A, Stojkovic T, Fernández-Eulate G. Panos-Basterra P, et al. Among authors: fernandez eulate g. Neuromuscul Disord. 2024 Sep;42:43-52. doi: 10.1016/j.nmd.2024.07.008. Epub 2024 Jul 24. Neuromuscul Disord. 2024. PMID: 39142003
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: fernandez eulate g. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G, Alfieri G, Spinazzi M, Ackermann-Bonan I, Duval F, Solé G, Caillon F, Mercier S, Pereon Y, Magot A, Pegat A, Salort-Campana E, Chabrol B, Gorokhova S, Krahn M, Biancalana V, Evangelista T, Behin A, Metay C, Stojkovic T. Fernández-Eulate G, et al. J Neurol. 2024 Jul;271(7):4008-4018. doi: 10.1007/s00415-024-12298-0. Epub 2024 Mar 22. J Neurol. 2024. PMID: 38517523
44 results