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PYROXD1-associated myopathy.
D'Costa MS, Bugiardini E, Merve A, Morrow JM. D'Costa MS, et al. Among authors: bugiardini e. BMJ Case Rep. 2024 Mar 29;17(3):e259907. doi: 10.1136/bcr-2024-259907. BMJ Case Rep. 2024. PMID: 38553017
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA. Bugiardini E, et al. Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. eCollection 2018. Front Neurol. 2018. PMID: 29997562 Free PMC article.
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG. Bugiardini E, et al. Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19. Neuromuscul Disord. 2019. PMID: 31561939
Differential Diagnoses of Inclusion Body Myositis.
Vivekanandam V, Bugiardini E, Merve A, Parton M, Morrow JM, Hanna MG, Machado PM. Vivekanandam V, et al. Among authors: bugiardini e. Neurol Clin. 2020 Aug;38(3):697-710. doi: 10.1016/j.ncl.2020.03.014. Neurol Clin. 2020. PMID: 32703477 Review.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: bugiardini e. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM, Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H, Elliott PM, Syrris P, Maas RP, Akhtar MM, Küsters B, Raaphorst J, Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes LR, Matthews E, Burkin DJ. Bugiardini E, et al. J Am Heart Assoc. 2022 Dec 6;11(23):e026494. doi: 10.1161/JAHA.122.026494. Epub 2022 Nov 29. J Am Heart Assoc. 2022. PMID: 36444867 Free PMC article.
Anti-HMGCR myopathy: barriers to prompt recognition.
Barp A, Merve A, Shah S, Desikan M, Hanna MG, Bugiardini E. Barp A, et al. Among authors: bugiardini e. Pract Neurol. 2023 Jun;23(3):239-242. doi: 10.1136/pn-2022-003589. Epub 2022 Dec 23. Pract Neurol. 2023. PMID: 36564213
71 results