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Results: 1 to 20 of 261

1.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Sweeney HL, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'Donnell MW, Peltz SW, McDonald CM; PTC124-GD-007-DMD Study Group.

Muscle Nerve. 2014 Jul 5. doi: 10.1002/mus.24332. [Epub ahead of print]

PMID:
25042182
[PubMed - as supplied by publisher]
2.

Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases.

Riboldi G, Zanetta C, Ranieri M, Nizzardo M, Simone C, Magri F, Bresolin N, Comi GP, Corti S.

Mol Neurobiol. 2014 May 9. [Epub ahead of print]

PMID:
24809691
[PubMed - as supplied by publisher]
3.

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.

Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E, Comi GP.

Neurology. 2014 Jun 3;82(22):1990-8. doi: 10.1212/WNL.0000000000000476. Epub 2014 May 7.

PMID:
24808015
[PubMed - in process]
4.

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis.

Guerini FR, Clerici M, Cagliani R, Malhotra S, Montalban X, Forni D, Agliardi C, Riva S, Caputo D, Galimberti D, Asselta R, Fenoglio C, Scarpini E, Comi GP, Bresolin N, Comabella M, Sironi M.

J Neuroimmunol. 2014 Jun 15;271(1-2):49-52. doi: 10.1016/j.jneuroim.2014.04.006. Epub 2014 Apr 16.

PMID:
24794504
[PubMed - in process]
5.

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock.

Protti A, Fortunato F, Caspani ML, Pluderi M, Lucchini V, Grimoldi N, Solimeno LP, Fagiolari G, Ciscato P, Zella SM, Moggio M, Comi GP, Gattinoni L.

PLoS One. 2014 May 1;9(5):e96205. doi: 10.1371/journal.pone.0096205. eCollection 2014.

PMID:
24787741
[PubMed - in process]
Free PMC Article
6.

Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation.

Faravelli I, Riboldi G, Nizzardo M, Simone C, Zanetta C, Bresolin N, Comi GP, Corti S.

Cell Mol Life Sci. 2014 Apr 4. [Epub ahead of print]

PMID:
24699704
[PubMed - as supplied by publisher]
7.

An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection.

Forni D, Cagliani R, Tresoldi C, Pozzoli U, De Gioia L, Filippi G, Riva S, Menozzi G, Colleoni M, Biasin M, Lo Caputo S, Mazzotta F, Comi GP, Bresolin N, Clerici M, Sironi M.

PLoS Genet. 2014 Mar 27;10(3):e1004189. doi: 10.1371/journal.pgen.1004189. eCollection 2014 Mar.

PMID:
24675550
[PubMed - in process]
Free PMC Article
8.

Effect of combined systemic and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype.

Nizzardo M, Simone C, Salani S, Ruepp MD, Rizzo F, Ruggieri M, Zanetta C, Brajkovic S, Moulton HM, Müehlemann O, Bresolin N, Comi GP, Corti S.

Clin Ther. 2014 Mar 1;36(3):340-56.e5. doi: 10.1016/j.clinthera.2014.02.004.

PMID:
24636820
[PubMed - in process]
9.

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.

Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.

PMID:
24510442
[PubMed - in process]
10.

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.

Ulzi G, Sansone VA, Magri F, Corti S, Bresolin N, Comi GP, Lucchiari S.

Mol Biol Rep. 2014 May;41(5):2865-74. doi: 10.1007/s11033-014-3142-5. Epub 2014 Jan 23.

PMID:
24452722
[PubMed - in process]
11.

6 minute walk test in Duchenne MD patients with different mutations: 12 month changes.

Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E.

PLoS One. 2014 Jan 8;9(1):e83400. doi: 10.1371/journal.pone.0083400. eCollection 2014.

PMID:
24421885
[PubMed - in process]
Free PMC Article
12.

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA).

Zanetta C, Riboldi G, Nizzardo M, Simone C, Faravelli I, Bresolin N, Comi GP, Corti S.

J Cell Mol Med. 2014 Feb;18(2):187-96. doi: 10.1111/jcmm.12224. Epub 2014 Jan 8. Review.

PMID:
24400925
[PubMed - indexed for MEDLINE]
13.

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

Sagnelli A, Savoiardo M, Marchesi C, Morandi L, Mora M, Morbin M, Farina L, Mazzeo A, Toscano A, Pagliarani S, Lucchiari S, Comi GP, Salsano E, Pareyson D.

Neuromuscul Disord. 2014 Mar;24(3):272-6. doi: 10.1016/j.nmd.2013.11.006. Epub 2013 Nov 19.

PMID:
24380807
[PubMed - in process]
14.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29.

PMID:
24375076
[PubMed - in process]
15.

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

Zanetta C, Nizzardo M, Simone C, Monguzzi E, Bresolin N, Comi GP, Corti S.

Clin Ther. 2014 Jan 1;36(1):128-40. doi: 10.1016/j.clinthera.2013.11.006. Epub 2013 Dec 17.

PMID:
24360800
[PubMed - in process]
16.

Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.

Lucchiari S, Ulzi G, Magri F, Bucchia M, Corbetta F, Servida M, Moggio M, Comi GP, Lecchi M.

J Physiol Pharmacol. 2013 Oct;64(5):669-78.

PMID:
24304580
[PubMed - in process]
Free Article
17.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators; ITALSGEN Consortium.

Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

PMID:
24256812
[PubMed - in process]
18.

Induced neural stem cells: methods of reprogramming and potential therapeutic applications.

Ruggieri M, Riboldi G, Brajkovic S, Bucchia M, Bresolin N, Comi GP, Corti S.

Prog Neurobiol. 2014 Mar;114:15-24. doi: 10.1016/j.pneurobio.2013.11.001. Epub 2013 Nov 15. Review.

PMID:
24246715
[PubMed - in process]
19.

Correction: 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.

Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

PLoS One. 2013 Nov 11;8(11). doi: 10.1371/annotation/cbe611fe-cda9-4d98-9574-0ac18e109daa. eCollection 2013.

PMID:
24244257
[PubMed - as supplied by publisher]
Free PMC Article
20.

Growing Evidence about the Relationship between Vessel Dissection and Scuba Diving.

Brajkovic S, Riboldi G, Govoni A, Corti S, Bresolin N, Comi GP.

Case Rep Neurol. 2013 Sep 12;5(3):155-61. doi: 10.1159/000354979. eCollection 2013.

PMID:
24163671
[PubMed]
Free PMC Article

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