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Items: 19

1.

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.

PMID:
29566793
2.

Spatial epidemiology of amyotrophic lateral sclerosis in Piedmont and Aosta Valley, Italy: a population-based cluster analysis.

Vasta R, Calvo A, Moglia C, Cammarosano S, Manera U, Canosa A, D'Ovidio F, Mazzini L, Chiò A.

Eur J Neurol. 2018 May;25(5):756-761. doi: 10.1111/ene.13586. Epub 2018 Mar 25.

PMID:
29377594
3.

NADPH oxidases 2 activation in patients with Parkinson's disease.

Marrali G, Casale F, Salamone P, Fuda G, Ilardi A, Manera U, Calvo A, Zibetti M, Lopiano L, Chiò A.

Parkinsonism Relat Disord. 2018 Apr;49:110-111. doi: 10.1016/j.parkreldis.2018.01.003. Epub 2018 Jan 5. No abstract available.

PMID:
29331562
4.

Secular Trends of Amyotrophic Lateral Sclerosis: The Piemonte and Valle d'Aosta Register.

Chiò A, Mora G, Moglia C, Manera U, Canosa A, Cammarosano S, Ilardi A, Bertuzzo D, Bersano E, Cugnasco P, Grassano M, Pisano F, Mazzini L, Calvo A; Piemonte and Valle d’Aosta Register for ALS (PARALS).

JAMA Neurol. 2017 Sep 1;74(9):1097-1104. doi: 10.1001/jamaneurol.2017.1387.

PMID:
28692730
5.

Influence of arterial hypertension, type 2 diabetes and cardiovascular risk factors on ALS outcome: a population-based study.

Moglia C, Calvo A, Canosa A, Bertuzzo D, Cugnasco P, Solero L, Grassano M, Bersano E, Cammarosano S, Manera U; Parals, Pisano F, Mazzini L, Dalla Vecchia LA, Mora G, Chiò A.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):590-597. doi: 10.1080/21678421.2017.1336560. Epub 2017 Jun 15.

PMID:
28616937
6.

Influence of cigarette smoking on ALS outcome: a population-based study.

Calvo A, Canosa A, Bertuzzo D, Cugnasco P, Solero L, Clerico M, De Mercanti S, Bersano E, Cammarosano S, Ilardi A, Manera U, Moglia C, Marinou K, Bottacchi E, Pisano F, Mora G, Mazzini L, Chiò A.

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1229-1233. doi: 10.1136/jnnp-2016-313793. Epub 2016 Sep 21.

PMID:
27656044
7.

Assessing and treating pain in movement disorders, amyotrophic lateral sclerosis, severe acquired brain injury, disorders of consciousness, dementia, oncology and neuroinfectivology. Evidence and recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation.

Bartolo M, Chiò A, Ferrari S, Tassorelli C, Tamburin S, Avenali M, Azicnuda E, Calvo A, Caraceni AT, Defazio G, DE Icco R, Formisano R, Franzoni S, Greco E, Jedrychowska I, Magrinelli F, Manera U, Marchioni E, Mariotto S, Monaco S, Pace A, Saviola D, Springhetti I, Tinazzi M, DE Tanti A; Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN).

Eur J Phys Rehabil Med. 2016 Dec;52(6):841-854. Epub 2016 Aug 31.

8.

Time for a Consensus Conference on pain in neurorehabilitation.

Sandrini G, Tamburin S, Paolucci S, Boldrini P, Saraceni VM, Smania N; Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN).

Eur J Phys Rehabil Med. 2016 Oct;52(5):714-716. Epub 2016 Jul 12. No abstract available.

9.

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.

De Marco G, Lomartire A, Calvo A, Risso A, De Luca E, Mostert M, Mandrioli J, Caponnetto C, Borghero G, Manera U, Canosa A, Moglia C, Restagno G, Fini N, Tarella C, Giordana MT, Rinaudo MT, Chiò A.

Neuropathol Appl Neurobiol. 2017 Feb;43(2):133-153. doi: 10.1111/nan.12328. Epub 2016 Jun 28.

PMID:
27178390
10.

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
11.

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.

12.

A Multicentric Prospective Incidence Study of Guillain-Barré Syndrome in Italy. The ITANG Study.

Benedetti MD, Pugliatti M, D'Alessandro R, Beghi E, Chiò A, Logroscino G, Filippini G, Galeotti F, Massari M, Santuccio C, Raschetti R; ITANG Study Group.

Neuroepidemiology. 2015;45(2):90-9. doi: 10.1159/000438752. Epub 2015 Aug 29.

13.

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS consortia.

Neurobiol Aging. 2015 Oct;36(10):2906.e1-5. doi: 10.1016/j.neurobiolaging.2015.06.013. Epub 2015 Jun 25.

14.

A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.

Canosa A, Calvo A, Moglia C, Barberis M, Brunetti M, Cammarosano S, Manera U, Ilardi A, Restagno G, Chiò A.

Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):127-8. doi: 10.3109/21678421.2014.966312. Epub 2014 Oct 9.

PMID:
25299943
15.

Genetic architecture of ALS in Sardinia.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Pliner HA, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS Consortia.

Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2014 Jul 18.

16.

Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study.

Chiò A, Calvo A, Bovio G, Canosa A, Bertuzzo D, Galmozzi F, Cugnasco P, Clerico M, De Mercanti S, Bersano E, Cammarosano S, Ilardi A, Manera U, Moglia C, Sideri R, Marinou K, Bottacchi E, Pisano F, Cantello R, Mazzini L, Mora G; Piemonte and Valle d’Aosta Register for Amyotrophic Lateral Sclerosis.

JAMA Neurol. 2014 Sep;71(9):1134-42. doi: 10.1001/jamaneurol.2014.1129.

17.

Persistent idiopathic hypoglossal nerve palsy: A motor neuron disease-mimic syndrome?

Ilardi A, Moglia C, Cammarosano S, Canosa A, Bertuzzo D, Manera U, Fuda G, Chiò A, Calvo A.

Amyotroph Lateral Scler Frontotemporal Degener. 2015 Jun;16(3-4):274-6. doi: 10.3109/21678421.2014.924144. Epub 2014 Jun 12. No abstract available.

PMID:
24920472
18.

Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

Chiò A, Battistini S, Calvo A, Caponnetto C, Conforti FL, Corbo M, Giannini F, Mandrioli J, Mora G, Sabatelli M; ITALSGEN Consortium, Ajmone C, Mastro E, Pain D, Mandich P, Penco S, Restagno G, Zollino M, Surbone A.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):478-85. doi: 10.1136/jnnp-2013-305546. Epub 2013 Jul 6. Review.

PMID:
23833266
19.

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.

Chiò A, Mora G, Restagno G, Brunetti M, Ossola I, Barberis M, Ferrucci L, Canosa A, Manera U, Moglia C, Fuda G, Traynor BJ, Calvo A.

Neurobiol Aging. 2013 Jan;34(1):357.e1-5. doi: 10.1016/j.neurobiolaging.2012.07.016. Epub 2012 Aug 22.

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