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Items: 1 to 50 of 115

1.

241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15-17th February, 2019 Hoofddorp, The Netherlands.

Greensmith L, Pradat PF, Sorarù G, Pennuto M; European SBMA Consortium.

Neuromuscul Disord. 2019 Sep;29(9):716-724. doi: 10.1016/j.nmd.2019.07.008. Epub 2019 Aug 9. No abstract available.

PMID:
31488386
2.

Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients.

Meroni M, Crippa V, Cristofani R, Rusmini P, Cicardi ME, Messi E, Piccolella M, Tedesco B, Ferrari V, Sorarù G, Pennuto M, Poletti A, Galbiati M.

Neurobiol Aging. 2019 Jul 10;82:48-59. doi: 10.1016/j.neurobiolaging.2019.07.001. [Epub ahead of print]

PMID:
31394426
3.

Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy.

Fortuna A, Gizzi M, Bello L, Martinelli I, Bertolin C, Pegoraro E, Corbetta M, Sorarù G; Edaravone Study Group.

J Neurol Sci. 2019 Sep 15;404:47-51. doi: 10.1016/j.jns.2019.06.006. Epub 2019 Jun 6.

PMID:
31325668
4.

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.

5.

Proteostasis and ALS: protocol for a phase II, randomised, double-blind, placebo-controlled, multicentre clinical trial for colchicine in ALS (Co-ALS).

Mandrioli J, Crippa V, Cereda C, Bonetto V, Zucchi E, Gessani A, Ceroni M, Chio A, D'Amico R, Monsurrò MR, Riva N, Sabatelli M, Silani V, Simone IL, Sorarù G, Provenzani A, D'Agostino VG, Carra S, Poletti A.

BMJ Open. 2019 May 30;9(5):e028486. doi: 10.1136/bmjopen-2018-028486.

6.

Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome.

Mazzini L, Gelati M, Profico DC, Sorarù G, Ferrari D, Copetti M, Muzi G, Ricciolini C, Carletti S, Giorgi C, Spera C, Frondizi D, Masiero S, Stecco A, Cisari C, Bersano E, De Marchi F, Sarnelli MF, Querin G, Cantello R, Petruzzelli F, Maglione A, Zalfa C, Binda E, Visioli A, Trombetta D, Torres B, Bernardini L, Gaiani A, Massara M, Paolucci S, Boulis NM, Vescovi AL; ALS-NSCs Trial Study Group.

Stem Cells Transl Med. 2019 Sep;8(9):887-897. doi: 10.1002/sctm.18-0154. Epub 2019 May 18.

7.

Collagen XIX Alpha 1 Improves Prognosis in Amyotrophic Lateral Sclerosis.

Calvo AC, Cibreiro GA, Merino PT, Roy JF, Galiana A, Rufián AJ, Cano JM, Martín MA, Moreno L, Larrodé P, Vázquez PC, Galán L, Mora J, Muñoz-Blanco JL, Muñoz MJ, Zaragoza P, Pegoraro E, Sorarù G, Mora M, Lunetta C, Penco S, Tarlarini C, Esteban J, Osta R, Redondo AG.

Aging Dis. 2019 Apr 1;10(2):278-292. doi: 10.14336/AD.2018.0917. eCollection 2019 Apr.

8.

Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease.

Spinelli EG, Agosta F, Ferraro PM, Querin G, Riva N, Bertolin C, Martinelli I, Lunetta C, Fontana A, Sorarù G, Filippi M.

Hum Brain Mapp. 2019 Jul;40(10):3102-3112. doi: 10.1002/hbm.24583. Epub 2019 Mar 28.

PMID:
30924230
9.

Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA.

Giorgia Q, Irene B, Laura M, Ilaria M, Cinzia B, Elena P, Sorarù G.

Neurol Sci. 2019 Jul;40(7):1393-1401. doi: 10.1007/s10072-019-03850-2. Epub 2019 Mar 26.

PMID:
30915613
10.

First synthesis of silicon nanocrystals in amorphous silicon nitride from a preceramic polymer.

Biesuz M, Bettotti P, Signorini S, Bortolotti M, Campostrini R, Bahri M, Ersen O, Speranza G, Lale A, Bernard S, Sorarù GD.

Nanotechnology. 2019 Jun 21;30(25):255601. doi: 10.1088/1361-6528/ab0cc8. Epub 2019 Mar 5.

PMID:
30836334
11.

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.

Lombardi V, Querin G, Ziff OJ, Zampedri L, Martinelli I, Heller C, Foiani M, Bertolin C, Lu CH, Malik B, Allen K, Rinaldi C, Zetterberg H, Heslegrave A, Greensmith L, Hanna M, Soraru G, Malaspina A, Fratta P.

Neurology. 2019 Mar 12;92(11):e1205-e1211. doi: 10.1212/WNL.0000000000007097. Epub 2019 Feb 20.

12.

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.

Tiziano FD, Lomastro R, Abiusi E, Pasanisi MB, Di Pietro L, Fiori S, Baranello G, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Mercuri E, Vasco G, Pane M, Vita G, Vita G, Messina S, Petillo R, Passamano L, Politano L, Campanella A, Mantegazza R, Morandi L.

J Med Genet. 2019 May;56(5):293-300. doi: 10.1136/jmedgenet-2018-105482. Epub 2018 Dec 28.

PMID:
30593463
13.

Towards Porous Silicon Oxycarbide Materials: Effects of Solvents on Microstructural Features of Poly(methylhydrosiloxane)/Divynilbenzene Aerogels.

Aguirre-Medel S, Jana P, Kroll P, Sorarù GD.

Materials (Basel). 2018 Dec 19;11(12). pii: E2589. doi: 10.3390/ma11122589.

14.

Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

Riva N, Mora G, Sorarù G, Lunetta C, Ferraro OE, Falzone Y, Leocani L, Fazio R, Comola M, Comi G; CANALS Study Group.

Lancet Neurol. 2019 Feb;18(2):155-164. doi: 10.1016/S1474-4422(18)30406-X. Epub 2018 Dec 13.

PMID:
30554828
15.

Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region.

Bertolin C, Querin G, Martinelli I, Pennuto M, Pegoraro E, Sorarù G.

Eur J Neurol. 2019 Mar;26(3):519-524. doi: 10.1111/ene.13850. Epub 2018 Dec 7.

PMID:
30351503
16.

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group.

Lancet Neurol. 2018 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15.

PMID:
30337273
17.

Breath Figures decorated silicon oxinitride ceramic surfaces with controlled Si ions release for enhanced osteoinduction.

Carlomagno C, Motta A, Sorarù G, Aswath P, Migliaresi C, Maniglio D.

J Biomed Mater Res B Appl Biomater. 2019 May;107(4):1284-1294. doi: 10.1002/jbm.b.34221. Epub 2018 Oct 14.

PMID:
30318728
18.

The clinical spectrum of CASQ1-related myopathy.

Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E.

Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26.

19.

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study.

Marcato S, Kleinbub JR, Querin G, Pick E, Martinelli I, Bertolin C, Cipolletta S, Pegoraro E, Sorarù G, Palmieri A.

Sci Rep. 2018 Sep 11;8(1):13627. doi: 10.1038/s41598-018-32062-5.

20.

Rapamycin treatment for amyotrophic lateral sclerosis: Protocol for a phase II randomized, double-blind, placebo-controlled, multicenter, clinical trial (RAP-ALS trial).

Mandrioli J, D'Amico R, Zucchi E, Gessani A, Fini N, Fasano A, Caponnetto C, Chiò A, Dalla Bella E, Lunetta C, Mazzini L, Marinou K, Sorarù G, de Biasi S, Lo Tartaro D, Pinti M, Cossarizza A; RAP-ALS investigators group.

Medicine (Baltimore). 2018 Jun;97(24):e11119. doi: 10.1097/MD.0000000000011119.

21.

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.

22.

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.

23.

New FIG4 gene mutations causing aggressive ALS.

Bertolin C, Querin G, Bozzoni V, Martinelli I, De Bortoli M, Rampazzo A, Gellera C, Pegoraro E, Sorarù G.

Eur J Neurol. 2018 Mar;25(3):e41-e42. doi: 10.1111/ene.13559. No abstract available.

PMID:
29464931
24.

Regenerable, innovative porous silicon-based polymer-derived ceramics for removal of methylene blue and rhodamine B from textile and environmental waters.

Bruzzoniti MC, Appendini M, Onida B, Castiglioni M, Del Bubba M, Vanzetti L, Jana P, Sorarù GD, Rivoira L.

Environ Sci Pollut Res Int. 2018 Apr;25(11):10619-10629. doi: 10.1007/s11356-018-1367-x. Epub 2018 Jan 30.

25.

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

Manzano R, Sorarú G, Grunseich C, Fratta P, Zuccaro E, Pennuto M, Rinaldi C.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):808-812. doi: 10.1136/jnnp-2017-316961. Epub 2018 Jan 20. Review.

26.

Muscle MRI and functional outcome measures in Becker muscular dystrophy.

Barp A, Bello L, Caumo L, Campadello P, Semplicini C, Lazzarotto A, Sorarù G, Calore C, Rampado A, Motta R, Stramare R, Pegoraro E.

Sci Rep. 2017 Nov 22;7(1):16060. doi: 10.1038/s41598-017-16170-2.

27.

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC.

Brain. 2017 Nov 1;140(11):2797-2805. doi: 10.1093/brain/awx248.

28.

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
29.

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Pozzi L, Valenza F, Mosca L, Dal Mas A, Domi T, Romano A, Tarlarini C, Falzone YM, Tremolizzo L, Sorarù G, Cerri F, Ferraro PM, Basaia S, Agosta F, Fazio R, Comola M, Comi G, Ferrari M, Quattrini A, Lunetta C, Penco S, Bonanomi D, Carrera P, Riva N.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):869-875. doi: 10.1136/jnnp-2017-316174. Epub 2017 Aug 19.

30.

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.

31.

Multimodal structural MRI in the diagnosis of motor neuron diseases.

Ferraro PM, Agosta F, Riva N, Copetti M, Spinelli EG, Falzone Y, Sorarù G, Comi G, Chiò A, Filippi M.

Neuroimage Clin. 2017 Aug 2;16:240-247. doi: 10.1016/j.nicl.2017.08.002. eCollection 2017.

32.

SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells.

Vianello S, Pantic B, Fusto A, Bello L, Galletta E, Borgia D, Gavassini BF, Semplicini C, Sorarù G, Vitiello L, Pegoraro E.

Hum Mol Genet. 2017 Sep 1;26(17):3342-3351. doi: 10.1093/hmg/ddx218.

PMID:
28595270
33.

Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy.

Querin G, Sorarù G, Pradat PF.

Rev Neurol (Paris). 2017 May;173(5):326-337. doi: 10.1016/j.neurol.2017.03.019. Epub 2017 May 1. Review.

PMID:
28473226
34.

The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case.

Querin G, Martinelli I, Bertolin C, Pegoraro E, Pennuto M, Sorarù G.

Ann Oncol. 2017 May 1;28(5):1160-1161. doi: 10.1093/annonc/mdx038. No abstract available.

PMID:
28453707
35.

Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease.

Gaiani A, Martinelli I, Bello L, Querin G, Puthenparampil M, Ruggero S, Toffanin E, Cagnin A, Briani C, Pegoraro E, Sorarù G.

JAMA Neurol. 2017 May 1;74(5):525-532. doi: 10.1001/jamaneurol.2016.5398.

36.

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes.

Milioto C, Malena A, Maino E, Polanco MJ, Marchioretti C, Borgia D, Pereira MG, Blaauw B, Lieberman AP, Venturini R, Plebani M, Sambataro F, Vergani L, Pegoraro E, Sorarù G, Pennuto M.

Sci Rep. 2017 Jan 24;7:41046. doi: 10.1038/srep41046.

37.

Gradient-Hierarchic-Aligned Porosity SiOC Ceramics.

Vakifahmetoglu C, Zeydanli D, Innocentini MD, Ribeiro FD, Lasso PR, Soraru GD.

Sci Rep. 2017 Jan 20;7:41049. doi: 10.1038/srep41049.

38.

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.

Borgia D, Malena A, Spinazzi M, Desbats MA, Salviati L, Russell AP, Miotto G, Tosatto L, Pegoraro E, Sorarù G, Pennuto M, Vergani L.

Hum Mol Genet. 2017 Mar 15;26(6):1087-1103. doi: 10.1093/hmg/ddx019.

39.

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.

40.

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Lucia Valentino M, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2017 Jan;18(1):69. doi: 10.1007/s10048-016-0501-5. No abstract available.

PMID:
27913898
41.

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
42.

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies.

Bello L, Campadello P, Barp A, Fanin M, Semplicini C, Sorarù G, Caumo L, Calore C, Angelini C, Pegoraro E.

Sci Rep. 2016 Sep 1;6:32439. doi: 10.1038/srep32439.

43.

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.

44.

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

Querin G, DaRe E, Martinelli I, Bello L, Bertolin C, Pareyson D, Mariotti C, Pegoraro E, Sorarù G.

Neurol Sci. 2016 Nov;37(11):1815-1821. Epub 2016 Jul 21.

PMID:
27444956
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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.

46.

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.

Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P, Sorarù G.

Eur J Neurol. 2016 Jun;23(6):1134-6. doi: 10.1111/ene.13001.

PMID:
27141859
47.

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet.

Rocchi A, Milioto C, Parodi S, Armirotti A, Borgia D, Pellegrini M, Urciuolo A, Molon S, Morbidoni V, Marabita M, Romanello V, Gatto P, Blaauw B, Bonaldo P, Sambataro F, Robins DM, Lieberman AP, Sorarù G, Vergani L, Sandri M, Pennuto M.

Acta Neuropathol. 2016 Jul;132(1):127-44. doi: 10.1007/s00401-016-1550-4. Epub 2016 Mar 12.

48.

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Valentino ML, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2016 Apr;17(2):143. doi: 10.1007/s10048-016-0475-3. No abstract available.

PMID:
26924555
49.

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Pareyson D, Fratta P, Pradat PF, Sorarù G, Finsterer J, Vissing J, Jokela ME, Udd B, Ludolph AC, Sagnelli A, Weydt P.

J Mol Neurosci. 2016 Mar;58(3):394-400. doi: 10.1007/s12031-015-0704-5. Epub 2016 Jan 7.

PMID:
26744358
50.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Valentino ML, Valentino L, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2016 Jan;17(1):65-70. doi: 10.1007/s10048-015-0465-x. Epub 2015 Nov 10. Erratum in: Neurogenetics. 2016 Apr;17(2):143. Valentino, Lucia [Corrected to Valentino, M. Lucia]. Neurogenetics. 2017 Jan;18(1):69. Carozzo, Rosalba [Corrected to Carrozzo, Rosalba].

PMID:
26556812

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