1976 …2020

Research output per year

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Research Output

2020

Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy

Passeri, E., Sansone, V. A., Sconfienza, L. M., Messina, C., Meola, G. & Corbetta, S., Jan 1 2020, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

2019

Aberrant insulin receptor expression is associated with insulin resistance and skeletal muscle atrophy in myotonic dystrophies

Renna, L. V., Bosè, F., Brigonzi, E., Fossati, B., Meola, G. & Cardani, R., Mar 2019, In : PLoS One. 14, 3, e0214254.

Research output: Contribution to journalArticle

Open Access

Dysregulation of circular RNAs in myotonic dystrophy type 1

Voellenkle, C., Perfetti, A., Carrara, M., Fuschi, P., Renna, L. V., Longo, M., Sain, S. B., Cardani, R., Valaperta, R., Silvestri, G., Legnini, I., Bozzoni, I., Furling, D., Gaetano, C., Falcone, G., Meola, G. & Martelli, F., Apr 2 2019, In : International Journal of Molecular Sciences. 20, 8, 1938.

Research output: Contribution to journalArticle

Open Access

TNNT2 missplicing in skeletal muscle as a cardiac biomarker in myotonic dystrophy type 1 but not in myotonic dystrophy type 2

Bosè, F., Renna, L. V., Fossati, B., Arpa, G., Labate, V., Milani, V., Botta, A., Micaglio, E., Meola, G. & Cardani, R., Sep 1 2019, In : Frontiers in Neurology. 10, SEP, 992.

Research output: Contribution to journalArticle

Open Access
2018

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, A. C., Dai, Y., Dawkins, H., Manera, J. A. D., Dogan, C., El Sherif, R., Fossati, B., Graham, C., Hilbert, J., Kastreva, K., Kimura, E., Korngut, L., Kostera-Pruszczyk, A., Lindberg, C., Lindvall, B. & 19 others, Luebbe, E., Lusakowska, A., Mazanec, R., Meola, G., Orlando, L., Takahashi, M. P., 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., Sep 5 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 155.

Research output: Contribution to journalArticle

Flecainide-induced Brugada syndrome in a patient with skeletal muscle sodium channelopathy: A case report with critical therapeutical implications and review of the literature

Cavalli, M., Fossati, B., Vitale, R., Brigonzi, E., Ricigliano, V. A. G., Saraceno, L., Cardani, R., Pappone, C. & Meola, G., May 30 2018, In : Frontiers in Neurology. 9, MAY, 385.

Research output: Contribution to journalArticle

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, J. M., Carrara, M., Provenzano, C., Fuschi, P., Cardani, R., Renna, L. V., Meola, G., Falcone, G. & Martelli, F., Jul 1 2018, In : Cell Death and Disease. 9, 7, 729.

Research output: Contribution to journalArticle

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., Sep 1 2018, In : Clinica Chimica Acta. 484, p. 111-116 6 p.

Research output: Contribution to journalArticle

Neuropsychological and psychological functioning aspects in myotonic dystrophy type 1 patients in Italy

Callus, E., Bertoldo, E. G., Beretta, M., Boveri, S., Cardani, R., Fossati, B., Brigonzi, E. & Meola, G., Sep 19 2018, In : Frontiers in Neurology. 9, SEP, 751.

Research output: Contribution to journalArticle

SCN4A as modifier gene in patients with myotonic dystrophy type 2

Binda, A., Renna, L. V., Bosè, F., Brigonzi, E., Botta, A., Valaperta, R., Fossati, B., Rivolta, I., Meola, G. & Cardani, R., Dec 1 2018, In : Scientific Reports. 8, 1, 11058.

Research output: Contribution to journalArticle

Sporadic MM-1 Type Creutzfeldt-Jakob disease with hemiballic presentation and no cognitive impairment until death: How New NCJDRSU diagnostic criteria may allow early diagnosis

Saraceno, L., Ricigliano, V. A. G., Cavalli, M., Cagol, A., Bosco, G., Moda, F., Caroppo, P. & Meola, G., Sep 5 2018, In : Frontiers in Neurology. 9, SEP, 739.

Research output: Contribution to journalArticle

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel

Altamura, C., Lucchiari, S., Sahbani, D., Ulzi, G., Comi, G. P., D'Ambrosio, P., Petillo, R., Politano, L., Vercelli, L., Mongini, T., Dotti, M. T., Cardani, R., Meola, G., Lo Monaco, M., Matthews, E., Hanna, M. G., Carratù, M. R., Conte, D., Imbrici, P. & Desaphy, J. F., 2018, In : Human Mutation. 39, 9, p. 1273-1283

Research output: Contribution to journalArticle

The role of clinical and neuroimaging features in the diagnosis of CADASIL

on behalf of Lombardia GENS-group, 2018, In : Journal of Neurology. 265, 12, p. 2934-2943

Research output: Contribution to journalArticle

2017

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

Meola, G., Meola, G., Biasini, F., Valaperta, R., Costa, E. & Cardani, R., Aug 1 2017, In : Journal of Neurology. 264, 8, p. 1705-1714 10 p.

Research output: Contribution to journalReview article

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., Dec 1 2017, In : Atherosclerosis. 267, p. 110-115 6 p.

Research output: Contribution to journalArticle

Circulating Irisin is reduced in male patients with type 1 and type 2 myotonic dystrophies

Dozio, E., Passeri, E., Cardani, R., Benedini, S., Aresta, C., Valaperta, R., Romanelli, M. C., Meola, G., Sansone, V. & Corbetta, S., Nov 14 2017, In : Frontiers in Endocrinology. 8, NOV, 320.

Research output: Contribution to journalArticle

Circulating Irisin Is Reduced in Male Patients with Type 1 and Type 2 Myotonic Dystrophies

Dozio, E., Passeri, E., Cardani, R., Benedini, S., Aresta, C., Valaperta, R., Corsi Romanelli, M., Meola, G., Sansone, V. & Corbetta, S., 2017, In : Frontiers in Endocrinology. 8, p. 320

Research output: Contribution to journalArticle

Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls A startling diagnosis

Russo, S. P., Fossati, B., Toffetti, M., Lanzone, J., Cardani, R. & Meola, G., Jan 31 2017, In : Neurology. 88, 5, p. e38-e41

Research output: Contribution to journalComment/debate

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., Mar 2017, In : Neurological Sciences. 38, 3, p. 415-423 9 p.

Research output: Contribution to journalArticle

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients

Provenzano, C., Cappella, M., Valaperta, R., Cardani, R., Meola, G., Martelli, F., Cardinali, B. & Falcone, G., Dec 1 2017, In : Molecular Therapy - Nucleic Acids. 9, p. 337-348 12 p.

Research output: Contribution to journalArticle

Electromechanical delays during a fatiguing exercise and recovery in patients with myotonic dystrophy type 1

Esposito, F., Cè, E., Rampichini, S., Monti, E., Limonta, E., Fossati, B. & Meola, G., Mar 2017, In : European Journal of Applied Physiology. 117, 3, p. 551-566 16 p.

Research output: Contribution to journalArticle

Electromechanical delays during a fatiguing exercise and recovery in patients with myotonic dystrophy type 1

Esposito, F., Cè, E., Rampichini, S., Monti, E., Limonta, E., Fossati, B. & Meola, G., Mar 2017, In : European Journal of Applied Physiology. p. 1-16 16 p.

Research output: Contribution to journalArticle

Myotonic dystrophies: State of the art of new therapeutic developments for the CNS

Gourdon, G. & Meola, G., Apr 20 2017, In : Frontiers in Cellular Neuroscience. 11, 101.

Research output: Contribution to journalArticle

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects

Meola, G. & Cardani, R., Apr 1 2017, In : Neurological Sciences. 38, 4, p. 535-546 12 p.

Research output: Contribution to journalReview article

Receptor and post-receptor abnormalities contribute to insulin resistance in myotonic dystrophy type 1 and type 2 skeletal muscle

Renna, L. V., Bosè, F., Iachettini, S., Fossati, B., Saraceno, L., Milani, V., Colombo, R., Meola, G. & Cardani, R., Sep 1 2017, In : PLoS One. 12, 9, e0184987.

Research output: Contribution to journalArticle

2016

A 12-month prospective, observational study evaluating the impact of disease-modifying treatment on emotional burden in recently-diagnosed multiple sclerosis patients: The POSIDONIA study

Montanari, E., Rottoli, M., Maimone, D., Confalonieri, P., Plewnia, K., Frigo, M., Francia, A., Pala, A., Losignore, N. A., Ragonese, P., Veneziano, A., POSIDONIA study group & Meola, G., May 15 2016, In : Journal of the Neurological Sciences. 364, p. 105-9 5 p.

Research output: Contribution to journalArticle

Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1

Serra, L., Mancini, M., Silvestri, G., Petrucci, A., Masciullo, M., Spanò, B., Torso, M., Mastropasqua, C., Giacanelli, M., Caltagirone, C., Cercignani, M., Meola, G. & Bozzali, M., 2016, In : Neural Plasticity. 2016, 2696085.

Research output: Contribution to journalArticle

Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1

Serra, L., Mancini, M., Silvestri, G., Petrucci, A., Masciullo, M., Spano', B., Torso, M., Mastropasqua, C., Giacanelli, M., Caltagirone, C., Cercignani, M., Meola, G. & Bozzali, M., 2016, In : Neural Plasticity. 2016, 2696085.

Research output: Contribution to journalArticle

Characterization of sarcoplasmic reticulum Ca(2+) ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Guglielmi, V., Oosterhof, A., Voermans, N. C., Cardani, R., Molenaar, J. P., Van Kuppevelt, T. H., Meola, G., van Engelen, B. G., Tomelleri, G. & Vattemi, G., Jun 2016, In : Neuromuscular Disorders. 26, 6, p. 378-85 8 p.

Research output: Contribution to journalArticle

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., Nov 28 2016, (Accepted/In press) In : Neurological Sciences. p. 1-9 9 p.

Research output: Contribution to journalArticle

Cognition in myotonic dystrophy type 1: a 5-year follow-up study

Winblad, S., Samuelsson, L., Lindberg, C. & Meola, G., Sep 1 2016, In : European Journal of Neurology. 23, 9, p. 1471-1476 6 p.

Research output: Contribution to journalArticle

Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association?

Giuliano, L., Sofia, V., Cardani, R., Meola, G. & Zappia, M., May 25 2016, (Accepted/In press) In : Neurological Sciences. p. 1-2 2 p.

Research output: Contribution to journalArticle

Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1

Esposito, F., Cè, E., Rampichini, S., Limonta, E., Venturelli, M., Monti, E., Bet, L., Fossati, B. & Meola, G., Jan 1 2016, In : Neuromuscular Disorders. 26, 1, p. 60-72 13 p.

Research output: Contribution to journalArticle

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, O. E., Villani, S., Iachettini, S., Piccoli, M., Cirillo, F., Pusineri, E., Meola, G. & Costa, E., Dec 1 2016, In : Clinica Chimica Acta. 463, p. 122-128 7 p.

Research output: Contribution to journalArticle

"I know that you know that I know": Neural substrates associated with social cognition deficits in DM1 patients

Serra, L., Cercignani, M., Bruschini, M., Cipolotti, L., Mancini, M., Silvestri, G., Petrucci, A., Bucci, E., Antonini, G., Licchelli, L., Spano', B., Giacanelli, M., Caltagirone, C., Meola, G. & Bozzali, M., Jun 1 2016, In : PLoS One. 11, 6, e0156901.

Research output: Contribution to journalArticle

"I know that you know that I know": Neural substrates associated with social cognition deficits in DM1 patients

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., Jun 1 2016, In : PLoS One. 11, 6, e0156901.

Research output: Contribution to journalArticle

No evidence for an effect on brain atrophy rate of atorvastatin add-on to interferon β1b therapy in relapsing-remitting multiple sclerosis (the ARIANNA study)

Lanzillo, R., Quarantelli, M., Pozzilli, C., Trojano, M., Amato, M. P., Marrosu, M. G., Francia, A., Florio, C., Orefice, G., Tedeschi, G., Bellantonio, P., Annunziata, P., M.E. Grimaldi, L., Comerci, M., Brunetti, A., Bonavita, V., Alfano, B., Marini, S., Brescia Morra, V., ARIANNA study group & 1 others, Meola, G., Aug 2016, In : Multiple Sclerosis. 22, 9, p. 1163-73 11 p.

Research output: Contribution to journalArticle

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis

Sansone, V. A., Burge, J., McDermott, M. P., Smith, P. C., Herr, B., Tawil, R., Pandya, S., Kissel, J., Ciafaloni, E., Shieh, P., Ralph, J. W., Amato, A., Cannon, S. C., Trivedi, J., Barohn, R., Crum, B., Mitsumoto, H., Pestronk, A., Meola, G., Conwit, R. & 2 others, Hanna, M. G. & Griggs, R. C., Apr 12 2016, In : Neurology. 86, 15, p. 1408-1416 9 p.

Research output: Contribution to journalArticle

Strictly monitored exercise programs reduce motor deterioration in ALS: preliminary results of a randomized controlled trial

Lunetta, C., Lizio, A., Sansone, V. A., Cellotto, N. M., Maestri, E., Bettinelli, M., Gatti, V., Melazzini, M. G., Meola, G. & Corbo, M., Jan 1 2016, In : Journal of Neurology. 263, 1, p. 52-60 9 p.

Research output: Contribution to journalArticle

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., Di Gaetano, C., Costa, E., Dotti, M. T., Silvestri, G., Massa, R., Meola, G. & Martelli, F., Dec 1 2016, In : Scientific Reports. 6, p. 38174 1 p.

Research output: Contribution to journalArticle

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., Di Gaetano, C., Costa, E., Dotti, M. T., Silvestri, G., Massa, R., Meola, G. & Martelli, F., Dec 1 2016, In : Scientific Reports. 6, p. 38174

Research output: Contribution to journalArticle

2015

Characterization of sarcoplasmic reticulum Ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy

Guglielmi, V., Oosterhof, A., Voermans, N. C., Cardani, R., Molenaar, J. P., van Kuppevelt, T. H., Meola, G., van Engelen, B. G., Tomelleri, G. & Vattemi, G., Dec 16 2015, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

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., Dec 1 2015, In : Genetic Testing and Molecular Biomarkers. 19, 12, p. 703-709 7 p.

Research output: Contribution to journalArticle

Gonadal failure is associated with visceral adiposity in myotonic dystrophies

Passeri, E., Bugiardini, E., Sansone, V. A., Pizzocaro, A., Fulceri, C., Valaperta, R., Borgato, S., Costa, E., Bandera, F., Ambrosi, B., Meola, G., Persani, L. & Corbetta, S., Jul 1 2015, In : European Journal of Clinical Investigation. 45, 7, p. 702-710 9 p.

Research output: Contribution to journalArticle

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., Jun 30 2015, In : Proceedings of the National Academy of Sciences of the United States of America. 112, 26, p. 8041-8045 5 p.

Research output: Contribution to journalArticle

Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013

Gagnon, C., Meola, G., Hébert, L. J., Laberge, L., Leone, M. & Heatwole, C., Jul 1 2015, In : Neuromuscular Disorders. 25, 7, p. 603-616 14 p.

Research output: Contribution to journalArticle

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, M. P. & Meola, G., Apr 1 2015, In : Neuromuscular Disorders. 25, 4, p. 301-307 7 p.

Research output: Contribution to journalArticle

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., 2015, In : European journal of histochemistry : EJH. 59, 4, p. 243-249 7 p., A01.

Research output: Contribution to journalArticle

Workshop Report: Consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2-3 December 2014, Milan, Italy

Bosco, G., Diamanti, S., Meola, G., Angeard, N., Bassez, G., Ekström, A. B., Bozzali, M., Cardani, R., Dent, G., Eymard, B., Fossati, B., Gallais, B., Gomes-Pereira, M., Gourdon, G., Kornblum, C., Lopez, A., MacKenzie, D., Minnerop, M., Pattni, J., Sergeant, N. & 4 others, Sonnino, S., Turner, C., Van Engelen, B. & Wood, L., Oct 1 2015, In : Neuromuscular Disorders. 25, 10, p. 813-823 11 p., 3076.

Research output: Contribution to journalArticle