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Items: 1 to 20 of 92

1.

Alternative Splicing of ALS Genes: Misregulation and Potential Therapies.

Perrone B, La Cognata V, Sprovieri T, Ungaro C, Conforti FL, Andò S, Cavallaro S.

Cell Mol Neurobiol. 2019 Aug 5. doi: 10.1007/s10571-019-00717-0. [Epub ahead of print] Review.

PMID:
31385134
2.

A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy.

Naimo GD, Guarnaccia M, Sprovieri T, Ungaro C, Conforti FL, Andò S, Cavallaro S.

Int J Mol Sci. 2019 Jul 30;20(15). pii: E3717. doi: 10.3390/ijms20153717. Review.

3.

Integrative multi-omic analysis identifies new drivers and pathways in molecularly distinct subtypes of ALS.

Morello G, Guarnaccia M, Spampinato AG, Salomone S, D'Agata V, Conforti FL, Aronica E, Cavallaro S.

Sci Rep. 2019 Jul 10;9(1):9968. doi: 10.1038/s41598-019-46355-w.

4.

A novel S379A TARDBP mutation associated to late-onset sporadic ALS.

Sprovieri T, Ungaro C, Perrone B, Naimo GD, Spataro R, Cavallaro S, La Bella V, Conforti FL.

Neurol Sci. 2019 Oct;40(10):2111-2118. doi: 10.1007/s10072-019-03943-y. Epub 2019 Jun 4.

PMID:
31165305
5.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.

Bandres-Ciga S, Noyce AJ, Hemani G, Nicolas A, Calvo A, Mora G; ITALSGEN Consortium; International ALS Genomics Consortium, Tienari PJ, Stone DJ, Nalls MA, Singleton AB, Chiò A, Traynor BJ.

Ann Neurol. 2019 Apr;85(4):470-481. doi: 10.1002/ana.25431. Epub 2019 Mar 13.

PMID:
30723964
6.

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.

Citrigno L, Magariello A, Pugliese P, Di Palma G, Conforti FL, Petrone A, Muglia M.

Acta Neurol Belg. 2018 Dec;118(4):643-646. doi: 10.1007/s13760-018-1039-0. Epub 2018 Nov 9.

PMID:
30411208
7.

Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis.

Morello G, Spampinato AG, Conforti FL, Cavallaro S.

Front Neurosci. 2018 Sep 26;12:673. doi: 10.3389/fnins.2018.00673. eCollection 2018.

8.

ALS and CHARGE syndrome: a clinical and genetic study.

Ungaro C, Citrigno L, Trojsi F, Sprovieri T, Gentile G, Muglia M, Monsurrò MR, Tedeschi G, Cavallaro S, Conforti FL.

Acta Neurol Belg. 2018 Dec;118(4):629-635. doi: 10.1007/s13760-018-1029-2. Epub 2018 Oct 13.

9.

Traceability of "Tuscan PGI" Extra Virgin Olive Oils by ¹H NMR Metabolic Profiles Collection and Analysis.

Girelli CR, Coco LD, Zelasco S, Salimonti A, Conforti FL, Biagianti A, Barbini D, Fanizzi FP.

Metabolites. 2018 Sep 30;8(4). pii: E60. doi: 10.3390/metabo8040060.

10.

NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.

La Cognata V, Morello G, Gentile G, Cavalcanti F, Cittadella R, Conforti FL, De Marco EV, Magariello A, Muglia M, Patitucci A, Spadafora P, D'Agata V, Ruggieri M, Cavallaro S.

Curr Genomics. 2018 Sep;19(6):431-443. doi: 10.2174/1389202919666180404105451.

11.

Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion.

Conforti FL, Tortelli R, Morello G, Capozzo R, Barulli MR, Cavallaro S, Logroscino G.

Neurobiol Aging. 2018 Sep;69:293.e1-293.e8. doi: 10.1016/j.neurobiolaging.2018.05.002. Epub 2018 Jun 14.

PMID:
29866399
12.

Ag-NPs induce apoptosis, mitochondrial damages and MT3/OSGIN2 expression changes in an in vitro model of human dental-pulp-stem-cells-derived neurons.

Bonaventura G, La Cognata V, Iemmolo R, Zimbone M, Contino A, Maccarrone G, Failla B, Barcellona ML, Conforti FL, D'Agata V, Cavallaro S.

Neurotoxicology. 2018 Jul;67:84-93. doi: 10.1016/j.neuro.2018.04.014. Epub 2018 Apr 23.

PMID:
29698629
13.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

14.

ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation Carriers.

Lo Bello M, Di Fini F, Notaro A, Spataro R, Conforti FL, La Bella V.

Neurodegener Dis. 2017;17(6):292-303. doi: 10.1159/000480085. Epub 2017 Oct 17.

PMID:
29035885
15.

PACAP and PAC1R are differentially expressed in motor cortex of amyotrophic lateral sclerosis patients and support survival of iPSC-derived motor neurons.

Bonaventura G, Iemmolo R, D'Amico AG, La Cognata V, Costanzo E, Zappia M, D'Agata V, Conforti FL, Aronica E, Cavallaro S.

J Cell Physiol. 2018 Apr;233(4):3343-3351. doi: 10.1002/jcp.26182. Epub 2017 Oct 20.

PMID:
28926110
16.

Selection and Prioritization of Candidate Drug Targets for Amyotrophic Lateral Sclerosis Through a Meta-Analysis Approach.

Morello G, Spampinato AG, Conforti FL, D'Agata V, Cavallaro S.

J Mol Neurosci. 2017 Apr;61(4):563-580. doi: 10.1007/s12031-017-0898-9. Epub 2017 Feb 24.

17.

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A.

Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

18.

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments.

Magariello A, Russo C, Citrigno L, Züchner S, Patitucci A, Mazzei R, Conforti FL, Ferlazzo E, Aguglia U, Muglia M.

J Neurol Sci. 2017 Jan 15;372:347-349. doi: 10.1016/j.jns.2016.11.069. Epub 2016 Dec 5. No abstract available.

PMID:
28017243
19.

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia.

Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9.

PMID:
27156075
20.

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.

Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium, Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL.

Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8.

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