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Items: 1 to 20 of 123

1.

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.

Cotti Piccinelli S, Bassi MT, Citterio A, Manganelli F, Tozza S, Santorelli FM, Gallo Cassarino S, Caria F, Baldelli E, Galvagni A, Santoro L, Padovani A, Filosto M.

Front Neurol. 2019 Jun 5;10:580. doi: 10.3389/fneur.2019.00580. eCollection 2019.

2.

Cortico-spinal tDCS in ALS: A randomized, double-blind, sham-controlled trial.

Benussi A, Alberici A, Cotelli MS, Dell'Era V, Cantoni V, Bonetta E, Manenti R, Filosto M, Morini R, Datta A, Thomas C, Padovani A, Borroni B.

Brain Stimul. 2019 Jun 8. pii: S1935-861X(19)30262-1. doi: 10.1016/j.brs.2019.06.011. [Epub ahead of print] No abstract available.

PMID:
31204206
3.

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Levene M, Bain MD, Moran NF, Nirmalananthan N, Poulton J, Scarpelli M, Filosto M, Mandel H, MacKinnon AD, Fairbanks L, Pacitti D, Bax BE.

J Clin Med. 2019 Apr 5;8(4). pii: E457. doi: 10.3390/jcm8040457.

4.

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.

Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.

Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16.

PMID:
30879255
5.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Musumeci O, Barca E, Lamperti C, Servidei S, Comi GP, Moggio M, Mongini T, Siciliano G, Filosto M, Pegoraro E, Primiano G, Ronchi D, Vercelli L, Orsucci D, Bello L, Zeviani M, Mancuso M, Toscano A.

Front Neurol. 2019 Feb 27;10:160. doi: 10.3389/fneur.2019.00160. eCollection 2019.

6.

C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis.

Fredi M, Cavazzana I, Biasiotto G, Filosto M, Padovani A, Monti E, Tincani A, Franceschini F, Zanella I.

Neuromolecular Med. 2019 Jun;21(2):150-159. doi: 10.1007/s12017-019-08528-8. Epub 2019 Mar 11.

PMID:
30859373
7.

Multicentre, population-based, case-control study of particulates, combustion products and amyotrophic lateral sclerosis risk.

Visser AE, D'Ovidio F, Peters S, Vermeulen RC, Beghi E, Chiò A, Veldink JH, Logroscino G, Hardiman O, van den Berg LH; Euro-MOTOR consortium.

J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):854-860. doi: 10.1136/jnnp-2018-319779. Epub 2019 Mar 8.

PMID:
30850472
8.

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives.

Paoletti M, Pichiecchio A, Cotti Piccinelli S, Tasca G, Berardinelli AL, Padovani A, Filosto M.

Front Neurol. 2019 Feb 11;10:78. doi: 10.3389/fneur.2019.00078. eCollection 2019. Review.

9.

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

Filosto M, Cotti Piccinelli S, Pichiecchio A, Musumeci O, Galvagni A, Caria F, Gallo Cassarino S, Baldelli E, Vitale R, Padovani A, Toscano A.

Front Neurol. 2019 Feb 7;10:77. doi: 10.3389/fneur.2019.00077. eCollection 2019.

10.

Muscle pain in mitochondrial diseases: a picture from the Italian network.

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M.

J Neurol. 2019 Apr;266(4):953-959. doi: 10.1007/s00415-019-09219-x. Epub 2019 Feb 2.

PMID:
30710167
11.

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome.

Filosto M, Piccinelli SC, Palmieri I, Necchini N, Valente M, Zanella I, Biasiotto G, Lorenzo DD, Cereda C, Padovani A.

J Clin Med. 2018 Dec 22;8(1). pii: E17. doi: 10.3390/jcm8010017.

12.

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).

Filosto M, Cotti Piccinelli S, Caria F, Gallo Cassarino S, Baldelli E, Galvagni A, Volonghi I, Scarpelli M, Padovani A.

J Clin Med. 2018 Oct 26;7(11). pii: E389. doi: 10.3390/jcm7110389. Review.

13.

Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database.

Doneddu PE, Cocito D, Manganelli F, Fazio R, Briani C, Filosto M, Benedetti L, Mazzeo A, Marfia GA, Cortese A, Fierro B, Jann S, Beghi E, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Antonini G, Rosso T, Siciliano G, Cavaletti G, Liberatore G, Santoro L, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Toscano A, Mataluni G, Piccolo L, Cosentino G, Sabatelli M, Nobile-Orazio E; Italian CIDP Database study group.

J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):125-132. doi: 10.1136/jnnp-2018-318714. Epub 2018 Oct 8.

14.

Association between alcohol exposure and the risk of amyotrophic lateral sclerosis in the Euro-MOTOR study.

D'Ovidio F, Rooney JPK, Visser AE, Manera U, Beghi E, Logroscino G, Vermeulen RCH, Veldink JH, van den Berg LH, Hardiman O, Chiò A; Euro-MOTOR consortium.

J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):11-19. doi: 10.1136/jnnp-2018-318559. Epub 2018 Aug 3.

PMID:
30076269
15.

Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis.

Filosto M, Galvagni A, Fagiolari G, Caria F, Cotti Piccinelli S, Marchesi M, Gallo Cassarino S, Baronchelli C, Moggio M, Padovani A.

Clin Neuropathol. 2018 Jul/Aug;37(4):196-198. doi: 10.5414/NP301101. No abstract available.

PMID:
29792396
16.

Multicentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis.

Visser AE, Rooney JPK, D'Ovidio F, Westeneng HJ, Vermeulen RCH, Beghi E, Chiò A, Logroscino G, Hardiman O, Veldink JH, van den Berg LH; Euro-MOTOR consortium.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):797-803. doi: 10.1136/jnnp-2017-317724. Epub 2018 Apr 23.

PMID:
29685899
17.

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.

18.

Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium.

Pupillo E, Poloni M, Bianchi E, Giussani G, Logroscino G, Zoccolella S, Chiò A, Calvo A, Corbo M, Lunetta C, Marin B, Mitchell D, Hardiman O, Rooney J, Stevic Z, Bandettini di Poggio M, Filosto M, Cotelli MS, Perini M, Riva N, Tremolizzo L, Vitelli E, Damiani D, Beghi E; EURALS Consortium†.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):118-125. doi: 10.1080/21678421.2017.1386687. Epub 2017 Oct 24.

PMID:
29063790
19.

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

Maggi L, Ravaglia S, Farinato A, Brugnoni R, Altamura C, Imbrici P, Camerino DC, Padovani A, Mantegazza R, Bernasconi P, Desaphy JF, Filosto M.

Neurogenetics. 2017 Dec;18(4):219-225. doi: 10.1007/s10048-017-0525-5. Epub 2017 Oct 9.

PMID:
28993909
20.

Protein misfolding, amyotrophic lateral sclerosis and guanabenz: protocol for a phase II RCT with futility design (ProMISe trial).

Bella ED, Tramacere I, Antonini G, Borghero G, Capasso M, Caponnetto C, Chiò A, Corbo M, Eleopra R, Filosto M, Giannini F, Granieri E, Bella V, Lunetta C, Mandrioli J, Mazzini L, Messina S, Monsurrò MR, Mora G, Riva N, Rizzi R, Siciliano G, Silani V, Simone I, Sorarù G, Volanti P, Lauria G.

BMJ Open. 2017 Aug 11;7(8):e015434. doi: 10.1136/bmjopen-2016-015434.

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