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Results: 1 to 20 of 278

1.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

Pensato V, Tiloca C, Corrado L, Bertolin C, Sardone V, Del Bo R, Calini D, Mandrioli J, Lauria G, Mazzini L, Querin G, Ceroni M, Cantello R, Corti S, Castellotti B, Soldà G, Duga S, Comi GP, Cereda C, Sorarù G, D'Alfonso S, Taroni F, Shaw CE, Landers JE, Ticozzi N, Ratti A, Gellera C, Silani V; SLAGEN Consortium.

J Neurol. 2015 Apr 18. [Epub ahead of print] No abstract available.

PMID:
25893256
2.

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M.

JAMA Neurol. 2015 Apr 6. doi: 10.1001/jamaneurol.2015.0178. [Epub ahead of print]

PMID:
25844556
3.

Redefining phenotypes associated with mitochondrial DNA single deletion.

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

J Neurol. 2015 Mar 26. [Epub ahead of print]

PMID:
25808502
4.

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group.

J Neurol Neurosurg Psychiatry. 2015 Mar 17. pii: jnnp-2014-310164. doi: 10.1136/jnnp-2014-310164. [Epub ahead of print]

PMID:
25783438
5.

Platelet mitochondrial dysfunction in critically ill patients: comparison between sepsis and cardiogenic shock.

Protti A, Fortunato F, Artoni A, Lecchi A, Motta G, Mistraletti G, Novembrino C, Comi GP, Gattinoni L.

Crit Care. 2015 Feb 11;19(1):39. doi: 10.1186/s13054-015-0762-7.

6.

Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family.

Colombo I, Pagliarani S, Testolin S, Salsano E, Napoli LM, Bordoni A, Salani S, D'Adda E, Morandi L, Farina L, Magri F, Riva M, Prelle A, Sciacco M, Comi GP, Moggio M.

Neuromuscul Disord. 2015 May;25(5):423-8. doi: 10.1016/j.nmd.2015.01.015. Epub 2015 Feb 7.

PMID:
25728520
7.

Prevalence of congenital muscular dystrophy in Italy: a population study.

Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E.

Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4.

PMID:
25653289
8.

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

Malaguti MC, Melzi V, Di Giacopo R, Monfrini E, Di Biase E, Franco G, Borellini L, Trezzi I, Monzio Compagnoni G, Fortis P, Feraco P, Orrico D, Cucurachi L, Donner D, Rizzuti M, Ronchi D, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A.

Parkinsonism Relat Disord. 2015 Mar;21(3):337-9. doi: 10.1016/j.parkreldis.2015.01.001. Epub 2015 Jan 10. No abstract available.

PMID:
25601130
9.

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Ronchi D, Riboldi G, Del Bo R, Ticozzi N, Scarlato M, Galimberti D, Corti S, Silani V, Bresolin N, Comi GP.

Brain. 2015 Jan 8. pii: awu384. [Epub ahead of print] No abstract available.

PMID:
25576308
10.

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype.

Ronchi D, Previtali SC, Sora MG, Barera G, Del Menico B, Corti S, Bresolin N, Comi GP.

J Mol Neurosci. 2015 May;56(1):212-5. doi: 10.1007/s12031-014-0483-4. Epub 2015 Jan 9.

PMID:
25572663
11.

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders.

Forni D, Pozzoli U, Cagliani R, Tresoldi C, Menozzi G, Riva S, Guerini FR, Comi GP, Bolognesi E, Bresolin N, Clerici M, Sironi M.

Genome Biol. 2014;15(10):499.

12.

Revised genetic classification of Limb Girdle Muscular Dystrophies.

Magri F, Brajkovic S, Govoni A, Brusa R, Comi GP.

Curr Mol Med. 2014 Oct 10. [Epub ahead of print]

PMID:
25323878
13.

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

Pane M, Mazzone ES, Sivo S, Sormani MP, Messina S, D Amico A, Carlesi A, Vita G, Fanelli L, Berardinelli A, Torrente Y, Lanzillotta V, Viggiano E, D Ambrosio P, Cavallaro F, Frosini S, Barp A, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Graziano A, Magri F, Palermo C, Rossi F, Donati MA, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

PLoS One. 2014 Oct 1;9(10):e108205. doi: 10.1371/journal.pone.0108205. eCollection 2014.

14.

iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1.

Simone C, Nizzardo M, Rizzo F, Ruggieri M, Riboldi G, Salani S, Bucchia M, Bresolin N, Comi GP, Corti S.

Stem Cell Reports. 2014 Aug 12;3(2):297-311. doi: 10.1016/j.stemcr.2014.06.004. Epub 2014 Jul 4.

15.

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M, Di Fruscio G, Mutarelli M, Torella A, Magri F, Santorelli FM, Comi GP, Bruno C, Nigro V.

Acta Neuropathol Commun. 2014 Sep 11;2:100. doi: 10.1186/s40478-014-0100-3.

16.

Glycogen storage disease type III: A novel Agl knockout mouse model.

Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S, Corti S, Moggio M, Bresolin N, Comi GP.

Biochim Biophys Acta. 2014 Nov;1842(11):2318-28. doi: 10.1016/j.bbadis.2014.07.029. Epub 2014 Aug 1.

PMID:
25092169
17.

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.

Lanfranconi S, Ronchi D, Ahmed N, Civelli V, Basilico P, Bresolin N, Comi GP, Corti S.

BMC Neurol. 2014 Aug 3;14:158. doi: 10.1186/s12883-014-0158-3.

18.

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, Lee Sweeney H, 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 Oct;50(4):477-87. doi: 10.1002/mus.24332.

19.

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 Dec;50(3):721-32. doi: 10.1007/s12035-014-8724-7. Epub 2014 May 9.

PMID:
24809691
20.

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
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