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Items: 1 to 50 of 244

1.

Correction to: 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, Díaz-Manera J, 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. 2019 Aug 15;14(1):199. doi: 10.1186/s13023-019-1157-7.

2.

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). pii: E1938. doi: 10.3390/ijms20081938.

3.

Chemistry at High Dilution: Dinuclear 99 m Tc Complexes.

Bolliger R, Frei A, Braband H, Meola G, Spingler B, Alberto R.

Chemistry. 2019 May 23;25(29):7101-7104. doi: 10.1002/chem.201901161. Epub 2019 Apr 30.

PMID:
30941766
4.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

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.

Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.

PMID:
30932294
5.

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. doi: 10.1371/journal.pone.0214254. eCollection 2019.

6.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S.

Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Review.

7.

Neuropsychological 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 Sep 19;9:751. doi: 10.3389/fneur.2018.00751. eCollection 2018.

8.

Editorial: Beyond Borders: Myotonic Dystrophies-A European Perception.

Schoser B, Meola G.

Front Neurol. 2018 Sep 20;9:787. doi: 10.3389/fneur.2018.00787. eCollection 2018. No abstract available.

9.

Report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop Paris, France, June 8, 2015.

Gagnon C, Heatwole C, Hébert LJ, Hogrel JY, Laberge L, Leone M, Meola G, Richer L, Sansone V, Kierkegaard M.

J Neuromuscul Dis. 2018;5(4):523-537. doi: 10.3233/JND-180329. No abstract available.

PMID:
30248061
10.

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 VAG, Cavalli M, Cagol A, Bosco G, Moda F, Caroppo P, Meola G.

Front Neurol. 2018 Sep 5;9:739. doi: 10.3389/fneur.2018.00739. eCollection 2018.

11.

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 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Erratum in: Orphanet J Rare Dis. 2019 Aug 15;14(1):199.

12.

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2.

Spitalieri P, Talarico RV, Murdocca M, Fontana L, Marcaurelio M, Campione E, Massa R, Meola G, Serafino A, Novelli G, Sangiuolo F, Botta A.

Front Physiol. 2018 Jul 27;9:967. doi: 10.3389/fphys.2018.00967. eCollection 2018.

13.

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 Jul 23;8(1):11058. doi: 10.1038/s41598-018-29302-z.

14.

Impact of premix antimicrobial preparation and time to administration in septic patients.

Kufel WD, Seabury RW, Meola GM, Darko W, Probst LA, Miller CD.

CJEM. 2018 Jul;20(4):565-571. doi: 10.1017/cem.2017.33.

PMID:
30033892
15.

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 Jun 28;9(7):729. doi: 10.1038/s41419-018-0769-5.

16.

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 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.

Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4.

PMID:
29935101
17.

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 VAG, Saraceno L, Cardani R, Pappone C, Meola G.

Front Neurol. 2018 May 30;9:385. doi: 10.3389/fneur.2018.00385. eCollection 2018.

18.

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 Sep;484:111-116. doi: 10.1016/j.cca.2018.05.040. Epub 2018 May 24.

PMID:
29803895
19.

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 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

20.

Retrospective assessment of succinylcholine use in acute stroke care: What are the risks?

Fancher J, Meola G, Paolo W, Seabury R.

Am J Emerg Med. 2018 Nov;36(11):2119-2120. doi: 10.1016/j.ajem.2018.03.047. Epub 2018 Mar 21. No abstract available.

PMID:
29602667
21.

MSA Mimic? Rare Occurrence of Anti-Hu Autonomic Failure and Thymoma in a Patient with Parkinsonism: Case Report and Literature Review.

Ricigliano VAG, Fossati B, Saraceno L, Cavalli M, Bazzigaluppi E, Meola G.

Front Neurosci. 2018 Jan 24;12:17. doi: 10.3389/fnins.2018.00017. eCollection 2018.

22.

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.

Mol Ther Nucleic Acids. 2017 Dec 15;9:337-348. doi: 10.1016/j.omtn.2017.10.006. Epub 2017 Oct 14.

23.

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.

Front Endocrinol (Lausanne). 2017 Nov 14;8:320. doi: 10.3389/fendo.2017.00320. eCollection 2017.

24.

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 Dec;267:110-115. doi: 10.1016/j.atherosclerosis.2017.10.020. Epub 2017 Oct 21.

PMID:
29121498
25.

Impact of a Combination Antibiotic Bag on Compliance With Surviving Sepsis Campaign Goals in Emergency Department Patients With Severe Sepsis and Septic Shock.

Lorenzo MP, MacConaghy L, Miller CD, Meola G, Probst LA, Pratt B, Steele J, Seabury RW.

Ann Pharmacother. 2018 Mar;52(3):240-245. doi: 10.1177/1060028017739324. Epub 2017 Oct 27.

PMID:
29078714
26.

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 Sep 15;12(9):e0184987. doi: 10.1371/journal.pone.0184987. eCollection 2017.

27.

Slowly progressing varicella zoster brainstem encephalitis complicating Ramsay Hunt syndrome in an immunocompetent patient: case report and review of the literature.

Ricigliano VAG, Saraceno L, Cavalli M, Rodegher M, Meola G.

J Neurovirol. 2017 Dec;23(6):922-928. doi: 10.1007/s13365-017-0575-3. Epub 2017 Sep 13.

PMID:
28905216
28.

Structure and reactivities of rhenium and technetium bis-arene sandwich complexes [M(η6-arene)2].

Meola G, Braband H, Jordi S, Fox T, Blacque O, Spingler B, Alberto R.

Dalton Trans. 2017 Oct 31;46(42):14631-14637. doi: 10.1039/c7dt02072d.

PMID:
28766633
29.

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

Meola G, Biasini F, Valaperta R, Costa E, Cardani R.

J Neurol. 2017 Aug;264(8):1705-1714. doi: 10.1007/s00415-017-8504-1. Epub 2017 May 26. Review.

PMID:
28550479
30.

A Mixed-Ring Sandwich Complex from Unexpected Ring Contraction in [Re(η6-C6H5Br)(η6-C6R6)](PF6).

Meola G, Braband H, Hernández-Valdés D, Gotzmann C, Fox T, Spingler B, Alberto R.

Inorg Chem. 2017 Jun 5;56(11):6297-6301. doi: 10.1021/acs.inorgchem.7b00394. Epub 2017 May 11.

PMID:
28492323
31.

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.

Gourdon G, Meola G.

Front Cell Neurosci. 2017 Apr 20;11:101. doi: 10.3389/fncel.2017.00101. eCollection 2017. Review.

32.

Erratum: 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. 2017 Feb 22;7:43074. doi: 10.1038/srep43074. No abstract available.

33.

Posterior reversible encephalopathy syndrome after long-term treatment with low-dose sunitinib: a case report.

Saraceno L, Ricigliano VAG, Cavalli M, Meola G.

Neurol Sci. 2017 Jun;38(6):1119-1121. doi: 10.1007/s10072-017-2851-7. Epub 2017 Feb 21. No abstract available.

PMID:
28224329
34.

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.

Eur J Appl Physiol. 2017 Mar;117(3):551-566. doi: 10.1007/s00421-017-3558-4. Epub 2017 Feb 14.

PMID:
28194519
35.

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

Russo SP, Fossati B, Toffetti M, Lanzone J, Cardani R, Meola G.

Neurology. 2017 Jan 31;88(5):e38-e41. doi: 10.1212/WNL.0000000000003567. No abstract available.

PMID:
28138086
36.

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. doi: 10.1007/s10072-016-2805-5. Epub 2017 Jan 11. Review.

PMID:
28078562
37.

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 Feb;27(2):175-182. doi: 10.1016/j.nmd.2016.09.023. Epub 2016 Oct 19.

PMID:
28024841
38.

Insight into the structure and stability of Tc and Re DMSA complexes: A computational study.

Hernández-Valdés D, Blanco-González A, García-Fleitas A, Rodríguez-Riera Z, Meola G, Alberto R, Jáuregui-Haza U.

J Mol Graph Model. 2017 Jan;71:167-175. doi: 10.1016/j.jmgm.2016.11.014. Epub 2016 Nov 27.

PMID:
27923180
39.

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. doi: 10.1038/srep38174. Erratum in: Sci Rep. 2017 Feb 22;7:43074.

40.

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. doi: 10.1007/s10072-016-2778-4. Epub 2016 Nov 28.

PMID:
27896491
41.

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 Dec 1;463:122-128. doi: 10.1016/j.cca.2016.10.026. Epub 2016 Oct 22.

PMID:
27780717
42.

Bis-Arene Complexes [Re(η6-arene)2]+ as Highly Stable Bioorganometallic Scaffolds.

Meola G, Braband H, Schmutz P, Benz M, Spingler B, Alberto R.

Inorg Chem. 2016 Nov 7;55(21):11131-11139. Epub 2016 Oct 12.

PMID:
27731624
43.

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

Winblad S, Samuelsson L, Lindberg C, Meola G.

Eur J Neurol. 2016 Sep;23(9):1471-6. doi: 10.1111/ene.13062. Epub 2016 Jun 20.

PMID:
27323306
44.

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.

Neural Plast. 2016;2016:2696085. doi: 10.1155/2016/2696085. Epub 2016 May 25.

45.

"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.

PLoS One. 2016 Jun 3;11(6):e0156901. doi: 10.1371/journal.pone.0156901. eCollection 2016.

46.

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.

Neurol Sci. 2016 Nov;37(11):1867-1868. Epub 2016 May 25. No abstract available.

PMID:
27225277
47.

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

Guglielmi V, Oosterhof A, Voermans NC, Cardani R, Molenaar JP, van Kuppevelt TH, Meola G, van Engelen BG, Tomelleri G, Vattemi G.

Neuromuscul Disord. 2016 Jun;26(6):378-85. doi: 10.1016/j.nmd.2016.04.003. Epub 2016 Apr 6.

PMID:
27133661
48.

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

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; Muscle Study Group.

Neurology. 2016 Apr 12;86(15):1408-1416. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10.

49.

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 Oct 26;59(4):2562. doi: 10.4081/ejh.2015.2562.

50.

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.

Neuromuscul Disord. 2016 Jan;26(1):60-72. doi: 10.1016/j.nmd.2015.09.013. Epub 2015 Sep 25.

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