Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 237

1.

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.

2.

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.

3.

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
4.

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.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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
10.

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.

11.

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
12.

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.

13.

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
14.

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.

15.

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.

16.

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.

17.

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
18.

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
19.

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.

20.

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

Supplemental Content

Loading ...
Support Center