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Items: 1 to 50 of 69

1.

Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients.

Trojsi F, Siciliano M, Femiano C, Santangelo G, Lunetta C, Calvo A, Moglia C, Marinou K, Ticozzi N, Ferro C, Scialò C, Sorarù G, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Chiò A, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Sabatelli M, Riva N, Logroscino G, Messina S, Fasano A, Monsurrò MR, Tedeschi G, Mandrioli J.

Front Neurosci. 2019 May 17;13:485. doi: 10.3389/fnins.2019.00485. eCollection 2019.

2.

Psychiatric Symptoms in Amyotrophic Lateral Sclerosis: Beyond a Motor Neuron Disorder.

Zucchi E, Ticozzi N, Mandrioli J.

Front Neurosci. 2019 Mar 11;13:175. doi: 10.3389/fnins.2019.00175. eCollection 2019. Review.

3.

PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival.

Verde F, Tiloca C, Morelli C, Doretti A, Poletti B, Maderna L, Messina S, Gentilini D, Fogh I, Ratti A, Silani V, Ticozzi N.

Neurol Sci. 2019 Jul;40(7):1469-1473. doi: 10.1007/s10072-019-03834-2. Epub 2019 Mar 22.

PMID:
30903418
4.

Sexuality and intimacy in ALS: systematic literature review and future perspectives.

Poletti B, Carelli L, Solca F, Pezzati R, Faini A, Ticozzi N, Mitsumoto H, Silani V.

J Neurol Neurosurg Psychiatry. 2019 Jun;90(6):712-719. doi: 10.1136/jnnp-2018-319684. Epub 2018 Dec 11. Review.

PMID:
30538137
5.

Response to the commentary "The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases" by Biasiotto G and Zanella I..

Tiloca C, Sorosina M, Esposito F, Peroni S, Colombrita C, Ticozzi N, Ratti A, Martinelli-Boneschi F, Silani V.

Mult Scler Relat Disord. 2019 Jan;27:79-80. doi: 10.1016/j.msard.2018.10.007. Epub 2018 Oct 14. No abstract available.

PMID:
30347338
6.

No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis.

Tiloca C, Sorosina M, Esposito F, Peroni S, Colombrita C, Ticozzi N, Ratti A, Martinelli-Boneschi F, Silani V.

Mult Scler Relat Disord. 2018 Oct;25:192-195. doi: 10.1016/j.msard.2018.07.047. Epub 2018 Aug 1.

PMID:
30099204
7.

The Arrows and Colors Cognitive Test (ACCT): A new verbal-motor free cognitive measure for executive functions in ALS.

Poletti B, Carelli L, Faini A, Solca F, Meriggi P, Lafronza A, Ciringione L, Pedroli E, Ticozzi N, Ciammola A, Cipresso P, Riva G, Silani V.

PLoS One. 2018 Aug 9;13(8):e0200953. doi: 10.1371/journal.pone.0200953. eCollection 2018.

8.

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Morrison KE, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, de Belleroche J, Gellera C, Ratti A, Al-Chalabi A, Brown RH, Silani V, Landers JE, Shaw CE.

Neurobiol Aging. 2018 Nov;71:266.e1-266.e10. doi: 10.1016/j.neurobiolaging.2018.06.015. Epub 2018 Jun 25.

9.

Cognitive-behavioral longitudinal assessment in ALS: the Italian Edinburgh Cognitive and Behavioral ALS screen (ECAS).

Poletti B, Solca F, Carelli L, Faini A, Madotto F, Lafronza A, Monti A, Zago S, Ciammola A, Ratti A, Ticozzi N, Abrahams S, Silani V.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):387-395. doi: 10.1080/21678421.2018.1473443. Epub 2018 May 26.

PMID:
29804470
10.

The Complex Interplay Between Depression/Anxiety and Executive Functioning: Insights From the ECAS in a Large ALS Population.

Carelli L, Solca F, Faini A, Madotto F, Lafronza A, Monti A, Zago S, Doretti A, Ciammola A, Ticozzi N, Silani V, Poletti B.

Front Psychol. 2018 Apr 5;9:450. doi: 10.3389/fpsyg.2018.00450. eCollection 2018.

11.

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.

12.

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

Perez Carrion M, Pischedda F, Biosa A, Russo I, Straniero L, Civiero L, Guida M, Gloeckner CJ, Ticozzi N, Tiloca C, Mariani C, Pezzoli G, Duga S, Pichler I, Pan L, Landers JE, Greggio E, Hess MW, Goldwurm S, Piccoli G.

Front Mol Neurosci. 2018 Feb 28;11:64. doi: 10.3389/fnmol.2018.00064. eCollection 2018.

13.

Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis.

Mandrioli J, Ferri L, Fasano A, Zucchi E, Fini N, Moglia C, Lunetta C, Marinou K, Ticozzi N, Drago Ferrante G, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Chiò A, Riva N, Logroscino G, Messina S, Calvo A.

Eur J Neurol. 2018 Jun;25(6):861-868. doi: 10.1111/ene.13620. Epub 2018 Apr 15.

14.

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.

Corrado L, Tiloca C, Locci C, Bagarotti A, Hamzeiy H, Colombrita C, De Marchi F, Barizzone N, Cotella D, Ticozzi N, Mazzini L, Nazli Basak A, Ratti A, Silani V, D'alfonso S.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):426-431. doi: 10.1080/21678421.2018.1440407. Epub 2018 Feb 28.

PMID:
29490503
15.

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.

Hamzeiy H, Savaş D, Tunca C, Şen NE, Gündoğdu Eken A, Şahbaz I, Calini D, Tiloca C, Ticozzi N, Ratti A, Silani V, Başak AN.

Neurodegener Dis. 2018;18(1):38-48. doi: 10.1159/000486201. Epub 2018 Feb 9.

PMID:
29428949
16.

Reconsidering the causality of TIA1 mutations in ALS.

van der Spek RA, van Rheenen W, Pulit SL, Kenna KP, Ticozzi N, Kooyman M, Mclaughlin RL, Moisse M, van Eijk KR, van Vugt JJFA, Iacoangeli A, Andersen P, Nazli Basak A, Blair I, de Carvalho M, Chio A, Corcia P, Couratier P, Drory VE, Glass JD, Hardiman O, Mora JS, Morrison KE, Mitne-Neto M, Robberecht W, Shaw PJ, Panadés MP, van Damme P, Silani V, Gotkine M, Weber M, van Es MA, Landers JE, Al-Chalabi A, van den Berg LH, Veldink JH; PROJECT MINE ALS SEQUENCING CONSORTIUM.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):1-3. doi: 10.1080/21678421.2017.1413118. Epub 2017 Dec 13. No abstract available. Erratum in: Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):161.

17.

Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort.

Trojsi F, Siciliano M, Femiano C, Santangelo G, Lunetta C, Calvo A, Moglia C, Marinou K, Ticozzi N, Drago Ferrante G, Scialò C, Sorarù G, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Chiò A, Mora G, Poletti B, Volanti P, Caponnetto C, Querin G, Sabatelli M, Riva N, Logroscino G, Messina S, Fasano A, Monsurrò MR, Tedeschi G, Mandrioli J.

J Neurol. 2017 Nov;264(11):2224-2231. doi: 10.1007/s00415-017-8619-4. Epub 2017 Sep 15.

PMID:
28914354
18.

Brain-Computer Interface for Clinical Purposes: Cognitive Assessment and Rehabilitation.

Carelli L, Solca F, Faini A, Meriggi P, Sangalli D, Cipresso P, Riva G, Ticozzi N, Ciammola A, Silani V, Poletti B.

Biomed Res Int. 2017;2017:1695290. doi: 10.1155/2017/1695290. Epub 2017 Aug 23. Review.

19.

Use of Noninvasive Ventilation During Feeding Tube Placement.

Banfi P, Volpato E, Valota C, D'Ascenzo S, Alunno CB, Lax A, Nicolini A, Ticozzi N, Silani V, Bach JR.

Respir Care. 2017 Nov;62(11):1474-1484. doi: 10.4187/respcare.05031. Epub 2017 Aug 14. Review.

20.

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.

Bonati MT, Verde F, Hladnik U, Cattelan P, Campana L, Castronovo C, Ticozzi N, Maderna L, Colombrita C, Papa S, Banfi P, Silani V.

Mol Genet Metab Rep. 2017 Jul 21;13:14-17. doi: 10.1016/j.ymgmr.2017.07.007. eCollection 2017 Dec.

21.

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, Altmüller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.

Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.

22.

An eye-tracker controlled cognitive battery: overcoming verbal-motor limitations in ALS.

Poletti B, Carelli L, Solca F, Lafronza A, Pedroli E, Faini A, Ticozzi N, Ciammola A, Meriggi P, Cipresso P, Lulé D, Ludolph AC, Riva G, Silani V.

J Neurol. 2017 Jun;264(6):1136-1145. doi: 10.1007/s00415-017-8506-z. Epub 2017 May 13.

PMID:
28503706
23.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE.

Sci Transl Med. 2017 May 3;9(388). pii: eaad9157. doi: 10.1126/scitranslmed.aad9157.

24.

An eye-tracking controlled neuropsychological battery for cognitive assessment in neurological diseases.

Poletti B, Carelli L, Solca F, Lafronza A, Pedroli E, Faini A, Zago S, Ticozzi N, Ciammola A, Morelli C, Meriggi P, Cipresso P, Lulé D, Ludolph AC, Riva G, Silani V.

Neurol Sci. 2017 Apr;38(4):595-603. doi: 10.1007/s10072-016-2807-3. Epub 2017 Jan 11.

PMID:
28078566
25.

Factors predicting survival in ALS: a multicenter Italian study.

Calvo A, Moglia C, Lunetta C, Marinou K, Ticozzi N, Ferrante GD, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Chiò A, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Riva N, Logroscino G, Messina S, Fini N, Mandrioli J.

J Neurol. 2017 Jan;264(1):54-63. doi: 10.1007/s00415-016-8313-y. Epub 2016 Oct 24.

PMID:
27778156
26.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

27.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

28.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J.

JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114.

29.

The validation of the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS).

Poletti B, Solca F, Carelli L, Madotto F, Lafronza A, Faini A, Monti A, Zago S, Calini D, Tiloca C, Doretti A, Verde F, Ratti A, Ticozzi N, Abrahams S, Silani V.

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):489-498. Epub 2016 May 24.

PMID:
27219526
30.

Cognitive assessment in Amyotrophic Lateral Sclerosis by means of P300-Brain Computer Interface: a preliminary study.

Poletti B, Carelli L, Solca F, Lafronza A, Pedroli E, Faini A, Zago S, Ticozzi N, Meriggi P, Cipresso P, Lulé D, Ludolph AC, Riva G, Silani V.

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):473-481. Epub 2016 May 12.

PMID:
27169693
31.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP.

Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253.

32.

MRI abnormalities found 1 year prior to symptom onset in a case of Creutzfeldt-Jakob disease.

Verde F, Ticozzi N, Messina S, Calcagno N, Girotti F, Maderna L, Moda F, Scola E, Falini A, Tagliavini F, Silani V.

J Neurol. 2016 Mar;263(3):597-9. doi: 10.1007/s00415-016-8022-6. Epub 2016 Feb 12. No abstract available.

PMID:
26872662
33.

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 May;262(5):1376-8. doi: 10.1007/s00415-015-7739-y. Epub 2015 Apr 18. No abstract available.

34.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB.

Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.

35.

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 Aug;138(Pt 8):e372. doi: 10.1093/brain/awu384. Epub 2015 Jan 8. No abstract available.

PMID:
25576308
36.

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Smith BN, Vance C, Scotter EL, Troakes C, Wong CH, Topp S, Maekawa S, King A, Mitchell JC, Lund K, Al-Chalabi A, Ticozzi N, Silani V, Sapp P, Brown RH Jr, Landers JE, Al-Sarraj S, Shaw CE.

Neurobiol Aging. 2015 Mar;36(3):1602.e17-27. doi: 10.1016/j.neurobiolaging.2014.10.032. Epub 2014 Oct 31.

37.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

38.

A review of options for treating sialorrhea in amyotrophic lateral sclerosis.

Banfi P, Ticozzi N, Lax A, Guidugli GA, Nicolini A, Silani V.

Respir Care. 2015 Mar;60(3):446-54. doi: 10.4187/respcare.02856. Epub 2014 Sep 16. Review.

39.

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.

van Doormaal PT, Ticozzi N, Gellera C, Ratti A, Taroni F, Chiò A, Calvo A, Mora G, Restagno G, Traynor BJ, Birve A, Lemmens R, van Es MA, Saris CG, Blauw HM, van Vught PW, Groen EJ, Corrado L, Mazzini L, Del Bo R, Corti S, Waibel S, Meyer T, Ludolph AC, Goris A, van Damme P, Robberecht W, Shatunov A, Fogh I, Andersen PM, D'Alfonso S, Hardiman O, Cronin S, Rujescu D, Al-Chalabi A, Landers JE, Silani V, van den Berg LH, Veldink JH.

Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Apr 19.

40.

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.

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

41.

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.

Ticozzi N, Tiloca C, Calini D, Gagliardi S, Altieri A, Colombrita C, Cereda C, Ratti A, Pezzoli G, Borroni B, Goldwurm S, Padovani A, Silani V.

Neurobiol Aging. 2014 Apr;35(4):936.e13-7. doi: 10.1016/j.neurobiolaging.2013.09.037. Epub 2013 Oct 2.

PMID:
24169076
42.

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

Calini D, Corrado L, Del Bo R, Gagliardi S, Pensato V, Verde F, Corti S, Mazzini L, Milani P, Castellotti B, Bertolin C, Sorarù G, Cereda C, Comi GP, D'Alfonso S, Gellera C, Ticozzi N, Landers JE, Ratti A, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2013 Nov;34(11):2695.e11-2. doi: 10.1016/j.neurobiolaging.2013.05.025. Epub 2013 Jul 2.

43.

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Gellera C, Tiloca C, Del Bo R, Corrado L, Pensato V, Agostini J, Cereda C, Ratti A, Castellotti B, Corti S, Bagarotti A, Cagnin A, Milani P, Gabelli C, Riboldi G, Mazzini L, Sorarù G, D'Alfonso S, Taroni F, Comi GP, Ticozzi N, Silani V; SLAGEN Consortium.

J Neurol Neurosurg Psychiatry. 2013 Feb;84(2):183-7. doi: 10.1136/jnnp-2012-303433. Epub 2012 Nov 8.

PMID:
23138764
44.

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.

Tiloca C, Ticozzi N, Pensato V, Corrado L, Del Bo R, Bertolin C, Fenoglio C, Gagliardi S, Calini D, Lauria G, Castellotti B, Bagarotti A, Corti S, Galimberti D, Cagnin A, Gabelli C, Ranieri M, Ceroni M, Siciliano G, Mazzini L, Cereda C, Scarpini E, Sorarù G, Comi GP, D'Alfonso S, Gellera C, Ratti A, Landers JE, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2013 May;34(5):1517.e9-10. doi: 10.1016/j.neurobiolaging.2012.09.016. Epub 2012 Oct 11.

45.

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.

Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280.

46.

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.

Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2012 Oct;33(10):2528.e7-14. doi: 10.1016/j.neurobiolaging.2012.06.008. Epub 2012 Jul 4.

PMID:
22766072
47.

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

Ticozzi N, Tiloca C, Mencacci NE, Morelli C, Doretti A, Rusconi D, Colombrita C, Sangalli D, Verde F, Finelli P, Messina S, Ratti A, Silani V.

J Neurol. 2013 Jan;260(1):85-92. doi: 10.1007/s00415-012-6589-0. Epub 2012 Jul 1.

48.

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE.

Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13.

49.

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Gellera C, Ticozzi N, Pensato V, Nanetti L, Castucci A, Castellotti B, Lauria G, Taroni F, Silani V, Mariotti C.

Neurobiol Aging. 2012 Aug;33(8):1847.e15-21. doi: 10.1016/j.neurobiolaging.2012.02.004. Epub 2012 Mar 16.

PMID:
22425256
50.

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.

Ramos EM, Keagle P, Gillis T, Lowe P, Mysore JS, Leclerc AL, Ratti A, Ticozzi N, Gellera C, Gusella JF, Silani V, Alonso I, Brown RH Jr, MacDonald ME, Landers JE.

Amyotroph Lateral Scler. 2012 May;13(3):265-9. doi: 10.3109/17482968.2011.653573. Epub 2012 Mar 13.

PMID:
22409360

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