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Results: 1 to 20 of 298

1.

A Pilot Study Evaluating the Contribution of SLC19A1 (RFC-1) 80G>A Polymorphism to Alzheimer's Disease in Italian Caucasians.

Coppedè F, Tannorella P, Tognoni G, Bagnoli S, Bongioanni P, Nacmias B, Siciliano G, Sorbi S, Bonuccelli U, Migliore L.

Biomed Res Int. 2014;2014:608104. doi: 10.1155/2014/608104. Epub 2014 Jun 5.

PMID:
24995314
[PubMed - in process]
Free PMC Article
2.

Cell To Cell Spreading Of Misfolded Proteins As A Therapeutic Target In Motor Neuron Disease.

Pasquali L, Lenzi P, Biagioni F, Siciliano G, Fornai F.

Curr Med Chem. 2014 Jun 1. [Epub ahead of print]

PMID:
24934358
[PubMed - as supplied by publisher]
3.

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M; United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH Jr, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J.

PLoS One. 2014 Jun 12;9(6):e94661. doi: 10.1371/journal.pone.0094661. eCollection 2014.

PMID:
24922517
[PubMed - in process]
Free PMC Article
4.

Evaluation of damaging effects of splicing mutations: Validation of an in vitro method for diagnostic laboratories.

Di Resta C, Manzoni M, Zoni Berisso M, Siciliano G, Benedetti S, Ferrari M.

Clin Chim Acta. 2014 Jun 7;436C:276-282. doi: 10.1016/j.cca.2014.05.026. [Epub ahead of print]

PMID:
24915601
[PubMed - as supplied by publisher]
5.

Myopathic Involvement and Mitochondrial Pathology in Kennedy Disease and in Other Motor Neuron Diseases.

Orsucci D, Rocchi A, Ienco EC, Alì G, LoGerfo A, Petrozzi L, Scarpelli M, Filosto M, Carlesi C, Siciliano G, Bonuccelli U, Mancuso M.

Curr Mol Med. 2014 Jun 2. [Epub ahead of print]

PMID:
24894177
[PubMed - as supplied by publisher]
6.

Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis.

Italiani P, Carlesi C, Giungato P, Puxeddu I, Borroni B, Bossù P, Migliorini P, Siciliano G, Boraschi D.

J Neuroinflammation. 2014 May 23;11:94. doi: 10.1186/1742-2094-11-94.

PMID:
24884937
[PubMed - in process]
Free PMC Article
7.

Plastic changes in the spinal cord in motor neuron disease.

Fornai F, Ferrucci M, Lenzi P, Falleni A, Biagioni F, Flaibani M, Siciliano G, Giannessi F, Paparelli A.

Biomed Res Int. 2014;2014:670756. doi: 10.1155/2014/670756. Epub 2014 Apr 16.

PMID:
24829911
[PubMed - in process]
Free PMC Article
8.

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.

Orsucci D, Petrucci L, Ienco EC, Chico L, Simi P, Fogli A, Baldinotti F, Simoncini C, LoGerfo A, Carlesi C, Arnoldi A, Bassi MT, Siciliano G, Bonuccelli U, Mancuso M.

Clin Neurol Neurosurg. 2014 May;120:14-9. doi: 10.1016/j.clineuro.2014.02.002. Epub 2014 Feb 17.

PMID:
24731568
[PubMed - in process]
9.

Mitochondrial DNA (mtDNA) haplotypes and dysfunctions in presbyacusis.

Mostafa H, Saad M, El-Attar A, Ahmed G, Berrettini S, Forli F, Siciliano G, Mancuso M.

Acta Otorhinolaryngol Ital. 2014 Feb;34(1):54-61.

PMID:
24711684
[PubMed - in process]
Free PMC Article
10.

Lack of association between nuclear factor erythroid-derived 2-like 2 promoter gene polymorphisms and oxidative stress biomarkers in amyotrophic lateral sclerosis patients.

LoGerfo A, Chico L, Borgia L, Petrozzi L, Rocchi A, D'Amelio A, Carlesi C, Caldarazzo Ienco E, Mancuso M, Siciliano G.

Oxid Med Cell Longev. 2014;2014:432626. doi: 10.1155/2014/432626. Epub 2014 Feb 9.

PMID:
24672634
[PubMed - in process]
Free PMC Article
11.

Study of the Porcine Dermal Collagen Repair Patch in Morpho-functional Recovery of the Rotator Cuff After Minimum Follow-up of 2.5 Years.

Giannotti S, Ghilardi M, Dell'osso G, Magistrelli L, Bugelli G, Di Rollo F, Ricci G, Calabrese R, Siciliano G, Guido G.

Surg Technol Int. 2014 Mar;24:348-52.

PMID:
24526420
[PubMed - in process]
12.

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]
13.

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]
14.

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]
15.

Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.

Kiferle L, Orsucci D, Mancuso M, Lo Gerfo A, Petrozzi L, Siciliano G, Ceravolo R, Bonuccelli U.

Neurosci Lett. 2013 Nov 27;556:1-4. doi: 10.1016/j.neulet.2013.09.034. Epub 2013 Sep 26. Review.

PMID:
24076137
[PubMed - indexed for MEDLINE]
16.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R.

Brain. 2013 Nov;136(Pt 11):3408-17. doi: 10.1093/brain/awt226. Epub 2013 Sep 11.

PMID:
24030947
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

An "inflammatory" mitochondrial myopathy. A case report.

Mancuso M, Orsucci D, Ienco EC, Ricci G, Ali G, Servadio A, Fontanini G, Filosto M, Vielmi V, Rocchi A, Petrozzi L, Logerfo A, Siciliano G.

Neuromuscul Disord. 2013 Nov;23(11):907-10. doi: 10.1016/j.nmd.2013.07.011. Epub 2013 Aug 8.

PMID:
24011700
[PubMed - indexed for MEDLINE]
18.

Mapping cortical degeneration in ALS with magnetization transfer ratio and voxel-based morphometry.

Cosottini M, Cecchi P, Piazza S, Pesaresi I, Fabbri S, Diciotti S, Mascalchi M, Siciliano G, Bonuccelli U.

PLoS One. 2013 Jul 9;8(7):e68279. doi: 10.1371/journal.pone.0068279. Print 2013.

PMID:
23874570
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Fatigue is increased in episodic migraine without aura patients.

Lucchesi C, Sassi AN, Siciliano G, Gori S.

Headache. 2013 Jul-Aug;53(7):1163-5. doi: 10.1111/head.12134. No abstract available.

PMID:
23865916
[PubMed - indexed for MEDLINE]
20.

Oxidative stress and APO E polymorphisms in Alzheimer's disease and in mild cognitive impairment.

Chico L, Simoncini C, Lo Gerfo A, Rocchi A, Petrozzi L, Carlesi C, Volpi L, Tognoni G, Siciliano G, Bonuccelli U.

Free Radic Res. 2013 Aug;47(8):569-76. doi: 10.3109/10715762.2013.804622. Epub 2013 Jun 19.

PMID:
23668794
[PubMed - in process]

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