最新出版物
Mexiletine for Symnptoms and signs of Myotonia in Nondystrophic myotonia
JAMA 2012, October 3; Vol 308 (13)
Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone V, Salajegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
J Neurol 2012;259(10):2090-9
Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, Udd B, Raheem OR, Pentila S, Suominen T, Renna LV, Sansone V, Bugiardini E, Novelli G, Meola G.
GSK3β mediates muscle pathology in myotonic dystrophy
J Clin Invest 2012;122:4461-72
Jones K, Wei C, Iakova P, Bugiardini E, Schneider-Gold C, Meola G, Woodgett J,Killian J, Timchenko NA, Timchenko LT.
Plasma microRNAs as biomarkers for myotonic dystrophy type 1
Neuromuscul Disord 2014;24:509-15
Perfetti A, Greco S, Bugiardini E, Cardani R, Gaia P, Gaetano C, Meola G, Martelli F.
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2
Neuromuscul Disord 2014;24:1042-53
Cardani R, Giagnacovo M, Rossi G, Renna LV, Bugiardini E, Pizzamiglio C, Botta A, Meola G.
RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1
PLoS One. 2014 Sep 11;9(9):e107324. doi: 10.1371/journal.pone.0107324. eCollection 2014.
Klinck R, Fourrier A, Thibault P, Toutant J, Durand M, Lapointe E, Caillet-Boudin ML, Sergeant N, Gourdon G, Meola G, Furling D, Puymirat J, Chabot B.
Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5
Proc Natl Acad Sci U S A. 2015;112:8041-5
Jones K, Wei C, Schoser B, Meola G, Timchenko N, Timchenko L.
Myotonic Dystrophy type 2: an update on clinical aspects, genetic and pathomolecular mechanism
BBA-MOL BASIS DIS. 2015;1852:594-606
Meola G and Cardani R.
Muscle Study Group. Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis
Neurology. 2016;86(15):1408-16
Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC.
"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients
PLoS One. 2016 Jun 3;11(6):e0156901
Serra L, Cercignani M, Bruschini M, Cipolotti L, Mancini M, Silvestri G, Petrucci A, Bucci E, Antonini G, Licchelli L, Spanò B, Giacanelli M, Caltagirone C, Meola G, Bozzali M.
Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS
Front Cell Neurosci. 2017 Apr 20;11:101.
Gourdon G, Meola G.
Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach
J Neurol 2017;264:1705-1714 Review
Meola G, Biasini F, Valaperta R, Costa E, Cardani R.
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
Nat Commun. 2018 May 22;9(1):2009
Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.
SCN4A as modifier gene in patients with myotonic dystrophy type 2
Sci Rep 2018;8:11058
Binda A, Renna LV, Bosè F, Brigonzi E, Botta A, Valaperta R, Fossati B, Rivolta I, Meola G, Cardani R.
Consensus-based care reccomendations for adults with myotonic dystrophy type 1
Neurology: clinical Practice. 2018;8:1-14
Ashizawa T, Gagnon C, Groh WJ, MPH, Gutmann L, Johnson NE, Meola G, Moxley III R, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta M, Bozzali M, Broderick A, Byrne JLB, Campbell C, Day GW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom A-B, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M
