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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
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: bugiardini e. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Sympathetic and cardiovascular activity during cataplexy in narcolepsy.
Donadio V, Plazzi G, Vandi S, Franceschini C, Karlsson T, Montagna P, Vetrugno R, Bugiardini E, Mignot E, Liguori R. Donadio V, et al. Among authors: bugiardini e. J Sleep Res. 2008 Dec;17(4):458-63. doi: 10.1111/j.1365-2869.2008.00682.x. Epub 2008 Oct 20. J Sleep Res. 2008. PMID: 19021855
Gonadal failure is associated with visceral adiposity in myotonic dystrophies.
Passeri E, Bugiardini E, Sansone VA, Pizzocaro A, Fulceri C, Valaperta R, Borgato S, Costa E, Bandera F, Ambrosi B, Meola G, Persani L, Corbetta S. Passeri E, et al. Among authors: bugiardini e. Eur J Clin Invest. 2015 Jul;45(7):702-10. doi: 10.1111/eci.12459. Epub 2015 Jun 1. Eur J Clin Invest. 2015. PMID: 25950257
GSK3β mediates muscle pathology in myotonic dystrophy.
Jones K, Wei C, Iakova P, Bugiardini E, Schneider-Gold C, Meola G, Woodgett J, Killian J, Timchenko NA, Timchenko LT. Jones K, et al. Among authors: bugiardini e. J Clin Invest. 2012 Dec;122(12):4461-72. doi: 10.1172/JCI64081. Epub 2012 Nov 19. J Clin Invest. 2012. PMID: 23160194 Free PMC article.
Autonomic innervation in multiple system atrophy and pure autonomic failure.
Donadio V, Cortelli P, Elam M, Di Stasi V, Montagna P, Holmberg B, Giannoccaro MP, Bugiardini E, Avoni P, Baruzzi A, Liguori R. Donadio V, et al. Among authors: bugiardini e. J Neurol Neurosurg Psychiatry. 2010 Dec;81(12):1327-35. doi: 10.1136/jnnp.2009.198135. Epub 2010 Jul 26. J Neurol Neurosurg Psychiatry. 2010. PMID: 20660924
75 results