Pubblicazioni
Molecular and clinical implications of variant repeats in Myotonic Dyustrophy type 1. Peric S, Pesovic J, Savic-Pavicevic D, Rakocevic Stojanovic V and Meola G. Int J Mol Sci 2022;23:354. . (collaborazione in corso)
Pubblicazioni
Co-occurence of DMPK expansion and CLCN1 mutation in a patient with myotonia. Locci S, Cardani R, Brunori P, Lucchiari S, Comi GP, Federico A, De Stefano N, Meola G, Mignarri A. Neurological Sciences 2021 Aug 13. (progetto in corso)
Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis. Leddy S, Serra L, Esposito D, Vizzotto C, Giulietti G, Silvestri G, Petrucci A, Meola G, Lopiano L, Cercignani M, Bozzali M. Neuroimage Clin. 2021 Jan 14;29:102562.
Cerebral involvement and related aspects in myotonic dystrophy type 2. Peric S, Racocevik-Stojanovic V, Meola G. Neuromuscl Disord. 2021;31:681-94. (collaborazione in corso)
A 14-years italian experience in DM2 genetic testing: frequency and distribution of normal and premutated CNBP alleles. Botta A, Visconti BV, Fontana L, Bisceglia P, Bengala M, Massa R, Bagni I, Cardani R, Sangiuolo F, Meola G, Antonini G, Petrucci A, Pegoraro E, D’Apice MR, Novelli G. Front in genetics Jun 2021.
Pubblicazioni
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na v 1.4 Pagliarani S, Lucchiari S, Scarlato M, Redaelli E, Modoni A, Magri F, Fossati B, Previtali SC, Sansone VA, Lecchi M, Lo Monaco M, Meola G, Comi GP. Front Neurol. 2020 Apr 29;11:255. (progetto in corso)
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1. Serra L, Bianchi G, Bruschini M, Giulietti G, Domenico CD, Bonarota S, Petrucci A, Silvestri G, Perna A, Meola G, Caltagirone C, Bozzali M. Front Neurol. 2020; Febr 28;11:113.
Ventral tegmental area dysfunction affects decision-making in patients with myotonic dystrophy type-1. Serra L, Scocchia M, Meola G, D’Amelio M, Bruschini M, Silvestri G, Petrucci A, Di Domenico C, Caltagirone C, Koch G, Cercignani M, Petrosini L, Bozzali M. Cortex. 2020;128:192-202.
Guidelines on clinical presentation and management of nondystrophic myotonias. Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Muscle Nerve 2020 Oct;62(4):430-444.
Pubblicazioni
Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies. Renna LV, Bosè F, Brigonzi E, Fossati B, Meola G, Cardani R. PLoS One. 2019 Mar 22;14(3):e0214254.
TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2. Bosè F, Renna LV, Fossati B, Arpa G, Labate V, Milani V, Botta A, Micaglio E, Meola G, Cardani R. Front Neurol. 2019 Sep 27;10:992.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesHum Mutat. Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S. 2019 Jul;40(7):962-974.
Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. Voellenkle C, Perfetti A, Carrara M, Fuschi P, Renna LV, Longo M, Sain SB, Cardani R, Valaperta R, Silvestri G, Legnini I, Bozzoni I, Furling D, Gaetano C, Falcone G, Meola G, Martelli F. Int J Mol Sci. 2019 Apr 19;20(8).
Pubblicazioni
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Orphanet J Rare Dis. 2018;13:155.
Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory. De Siena C, Cardani R, Brigonzi E, Bosè F, Fossati B, Meola G, Costa E, Valaperta R. Clin Chim Acta. 2018;484:111-116.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within CBS2 domain and C-terminal peptide of ClC-1 channel. Hum Mutat. Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D’Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. 2018;39:1273-1283.
Neurophychological and psychological functioning aspects in myotonic dystrophy type 1 patients in Italy. Callus E, Bertoldo EG, Beretta M, Boveri S, Cardani R, Fossati B, Brigonzi E, Meola G. Front Neurol, 2018;19:1-17. (progetto in corso)
SCN4A as modifier gene in patients with myotonic dystrophy type 2. Binda A, Renna LV, Bosè F, Brigonzi E, Botta A, Valaperta R, Fossati B, Rivolta I, Meola G, Cardani R. Sci Rep. 2018;8:11058. . (progetto in corso)
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. Cappella M, Perfetti A, Cardinali B, Garcia-Manteiga JM, Carrara M, Provenzano C, Fuschi P, Cardani R, Renna LV, Meola G, Falcone G, Martelli F. Cell Death Dis. 2018;9:729.
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. 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. Nat Commun. 2018;9:2009.
Pubblicazioni
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. Meola G, Cardani R. Neurol Sci. 2017;38(4):535-546.
Cardiac involvement in myotonic dystrophy: The role of troponins and N-terminal pro B-type natriuretic peptide. Valaperta R, De Siena C, Cardani R, Lombardia F, Cenko E, Rampoldi B, Fossati B, Brigonzi E, Rigolini R, Gaia P, Meola G, Costa E, Bugiardini R. Atherosclerosis. 2017;267:110-115.
Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle. Renna LV, Bosè F, Iachettini S, Fossati B, Saraceno L, Milani V, Colombo R, Meola G, Cardani R. PLoS One 2017;12(9):e0184987.
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype. Bednarz M, Stunnenberg BC, Kusters B, Kamsteeg EJ, Saris CG, Groome J, Winston V, Meola G, Jurkat-Rott K, Voermans NC. Neuromuscul Disord. 2017;27:175-182.
Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2. Peric S, Rakocevic Stojanovic V, Mandic Stojmenovic G, Ilic V, Kovacevic M,Parojcic A, Pesovic J, Mijajlovic M, Savic-Pavicevic D, Meola G. Neurol Sci. 2017 Mar;38(3):415-423.
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. Meola G, Cardani R. Neurol Sci 2017 Apr;38(4):535-546.
Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS. Gourdon G, Meola G. Front Cell Neurosci. 2017;11:101.
Pubblicazioni
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1. Perfetti A, Greco S, Cardani R, Fossati B, Cuomo G, Valaperta R, Ambrogi F, Cortese A, Botta A, Mignarri A, Santoro M, Gaetano C, Costa E, Dotti MT, Silvestri G, Massa R, Meola G, Martelli F. Sci Rep. 2016 Dec 1;6:38174.
High-sensitive cardiac troponin T (hs-cTnT) assay as serum biomarker to predict cardiac risk in myotonic dystrophy: A case-control study.Valaperta R, Gaeta M, Cardani R, Lombardi F, Rampoldi B, De Siena C, Mori F, Fossati B, Gaia P, Ferraro OE, Villani S, Iachettini S, Piccoli M, Cirillo F, Pusineri E, Meola G, Costa E. Clin Chim Acta. 2016;463:122-128.
Cognition in myotonic dystrophy type 1: a 5-year follow-up study. Winblad S, Samuelsson L, Lindberg C, Meola G. Eur J Neurol. 2016;23:1471-6.
Pubblicazioni
Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2. Valaperta R, Lombardi F, Cardani R, Fossati B, Brigonzi E, Merli I, Sansone V, Merletti G, Spina E, Meola G, Costa E. Genet Test Mol Biomarkers. 2015;19(12):703-9.
Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1. Iachettini S, Valaperta R, Marchesi A, Perfetti A, Cuomo G, Fossati B, Vaienti L, Costa E, Meola G, Cardani R. Eur J Histochem. 2015;26;59(4):2562.
SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype. Bugiardini E, Rivolta I, Binda A, Soriano Caminero A, Cirillo F, Cinti A, Giovannoni R, Botta A, Cardani R, Wicklund MP, Meola G. Neuromuscul Disord. 2015;25(4):301-7. (progetto in corso)
Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2-3 December 2014, Milan, Italy. Bosco G, Diamanti S, Meola G; DM-CNS Group. Neuromuscul Disord 2015;25:813-23.
Reduction of toxic RNAs in myotonic dystrophies type 1 and type 2 by the RNA helicase p68/DDX5. Jones K, Wei C, Schoser B, Meola G, Timchenko N, Timchenko L. Proc Natl Acad Sci U S A. 2015;112:8041-5.
Myotonic Dystrophy type 2: an update on clinical aspects, genetic and pathomolecular mechanism. Meola G and Cardani R. BBA-MOL BASIS DIS. 2015;1852:594-60.
Myotonic Dystrophy type 2: An update on clinical aspects, genetic and pathomolecular mechanism. Meola G, Cardani R. J Neuromuscl Disease 2015;2:559-571.
Pubblicazioni
Plasma microRNAs as biomarkers for myotonic dystrophy type 1. Perfetti A, Greco S, Bugiardini E, Cardani R, Gaia P, Gaetano C, Meola G, Martelli F. Neuromuscul Disord. 2014 Jun;24(6):509-15. (progetto in corso)
Genome wide edentification of aberranr alternative splicing events in myotonic dystrophy type 2. Perfetti A, Greco S, Fasanaro P, Bugiardini E, Cardani R, Garcia-Manteiga JM, Riba M, Cittaro D, Stupka E, Meola G, Martelli F. PLoS One. 2014 Apr 10;9(4):e93983.
Premature senescenze in primary muscle cultures of myotonic dystrophy type 2 is not associated qith p16 unduction. Renna LV, Cardani R, Botta A, Rossi G, Fossati B, Costa E, Meola G. Eur J Histochem. 2014 Oct 22;58(4):24-44.
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2. Cardani R, Giagnacovo M, Rossi G, Renna LV, Bugiardini E, Pizzamiglio C, Botta A, Meola G. Neuromuscul Disord. 2014 Dec;24(12):1042-53.
RNA Transcription and Maturation in Skeletal Muscle Cells are Similarly Impaired in Myotonic Dystrophy and Sarcopenia: The Ultrastructural Evidence. Malatesta M, Cardani R, Pellicciari C, Meola G. Front Aging Neurosci. 2014 Jul 30;6:196.
Consensus on cerebral involvement in myotonic dystrophy Workshop report: May 24-27, 2013, Ferrere (AT), IT. Bugiardini E, Meola G, on behalf of the DM-CNS Group. Neuromuscular Disord 2014;24:445-452.
Pubblicazioni
Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments. Valaperta R, Sansone V, Lombardi F, Verdelli C, Colombo A, Valisi M, Brigonzi E, Costa E, Meola G. Biomed Res Int. 2013;2013:958510.
Muscleblind-loke1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia. Malatesta M, Giagnacovo M, Costanzo M, Cisterna B, Cardani R, Meola G. Eur J Histochem. 2013 Apr 22;57(2):e15.
Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2. Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, Meola G. PLoS One. 2013 Dec 20;8(12):e83777.
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Meola G. Acta Myol. 2013;32:154-65. Review.
Pubblicazioni
Deregulated microRNAs in myotonic dystrophy type 2. Greco S, Perfetti A, Fasanaro P, Cardani R, Capogrossi MC, Meola G, Martelli F. PLoS One. 2012;7(6):e39732.
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, Udd B, Raheem O, Penttilä S, Suominen T, Renna LV, Sansone V, Bugiardini E, Novelli G, Meola G. J Neurol. 2012;259(10):2090-9.
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. Ulzi G, Lecchi M, Sansone V, Redaelli E, Corti E, Saccomanno D, Pagliarani S, Corti S, Magri F, Raimondi M, D’Angelo G, Modoni A, Bresolin N, Meola G, Wanke E, Comi GP, Lucchiari S. J Neurol Sci 2012;318(1-2):65-71.
Pubblicazioni
Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1. Perbellini R, Greco S, Sarra-Ferraris G, Cardani R, Capogrossi MC, Meola G, Martelli F. Neuromuscul Disord. 2011 Feb;21(2):81-8.
RNA processing is altered in skeletal muscle nuclei of patients affected by myotonic dystrophy. Malatesta M, Giagnacovo M, Cardani R, Meola G, Pellicciari C. Histochem Cell Biol 2011;135:419-25.
