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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: borroni b. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
Ferrero E, Di Gregorio E, Ferrero M, Ortolan E, Moon YA, Di Campli A, Pavinato L, Mancini C, Tripathy D, Manes M, Hoxha E, Costanzi C, Pozzi E, Rossi Sebastiano M, Mitro N, Tempia F, Caruso D, Borroni B, Basso M, Sallese M, Brusco A. Ferrero E, et al. Among authors: borroni b. Hum Genet. 2023 Aug;142(8):1055-1076. doi: 10.1007/s00439-023-02572-y. Epub 2023 May 18. Hum Genet. 2023. PMID: 37199746 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study.
Pérez-Millan A, Borrego-Écija S, van Swieten JC, Jiskoot L, Moreno F, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Tiraboschi P, Seelaar H, Langheinrich T, Rohrer JD, Sala-Llonch R, Sánchez-Valle R; Genetic FTD Initiative, GENFI. Pérez-Millan A, et al. Among authors: borroni b. J Neurol. 2023 Mar;270(3):1573-1586. doi: 10.1007/s00415-022-11435-x. Epub 2022 Nov 29. J Neurol. 2023. PMID: 36443488 Free article.
Cortico-spinal tDCS in amyotrophic lateral sclerosis: A randomized, double-blind, sham-controlled trial followed by an open-label phase.
Benussi A, Cantoni V, Grassi M, Libri I, Cotelli MS, Tarantino B, Datta A, Thomas C, Huber N, Kärkkäinen S, Herukka SK, Haapasalo A, Filosto M, Padovani A, Borroni B. Benussi A, et al. Among authors: borroni b. Brain Stimul. 2023 Nov-Dec;16(6):1666-1676. doi: 10.1016/j.brs.2023.11.008. Epub 2023 Nov 15. Brain Stimul. 2023. PMID: 37977335 Free article. Clinical Trial.
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results.
Pasternak M, Mirza SS, Luciw N, Mutsaerts HJMM, Petr J, Thomas D, Cash D, Bocchetta M, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Rogaeva E, Russell LL, Bouzigues A, van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Tiraboschi P, Borroni B, Galimberti D, Rowe JB, Graff C, Finger E, Sorbi S, de Mendonça A, Butler C, Gerhard A, Sanchez-Valle R, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Levin J, Otto M, Santana I, Strafella AP, MacIntosh BJ, Rohrer JD, Masellis M; GENetic Frontotemporal dementia Initiative (GENFI). Pasternak M, et al. Among authors: borroni b. Alzheimers Dement. 2024 Apr 16. doi: 10.1002/alz.13750. Online ahead of print. Alzheimers Dement. 2024. PMID: 38623902 Italian.
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schm… See abstract for full author list ➔ van der Zee J, et al. Among authors: borroni b. Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4. Hum Mutat. 2013. PMID: 23111906 Free PMC article.
European intersocietal recommendations for the biomarker-based diagnosis of neurocognitive disorders.
Frisoni GB, Festari C, Massa F, Cotta Ramusino M, Orini S, Aarsland D, Agosta F, Babiloni C, Borroni B, Cappa SF, Frederiksen KS, Froelich L, Garibotto V, Haliassos A, Jessen F, Kamondi A, Kessels RP, Morbelli SD, O'Brien JT, Otto M, Perret-Liaudet A, Pizzini FB, Vandenbulcke M, Vanninen R, Verhey F, Vernooij MW, Yousry T, Boada Rovira M, Dubois B, Georges J, Hansson O, Ritchie CW, Scheltens P, van der Flier WM, Nobili F. Frisoni GB, et al. Among authors: borroni b. Lancet Neurol. 2024 Mar;23(3):302-312. doi: 10.1016/S1474-4422(23)00447-7. Lancet Neurol. 2024. PMID: 38365381 Review.
Atypical brain FDG-PET patterns increase the risk of long-term cognitive and motor progression in Parkinson's disease.
Imarisio A, Pilotto A, Premi E, Caminiti SP, Presotto L, Sala A, Zatti C, Lupini A, Turrone R, Paghera B, Borroni B, Perani D, Padovani A. Imarisio A, et al. Among authors: borroni b. Parkinsonism Relat Disord. 2023 Oct;115:105848. doi: 10.1016/j.parkreldis.2023.105848. Epub 2023 Sep 7. Parkinsonism Relat Disord. 2023. PMID: 37716228 Free article.
Sex Differences in the Severity and Progression of Neuropsychiatric Symptoms Across Different Dementia Types.
Silvestri C, Almici V, Libri I, Mattioli I, Cosseddu M, Turrone R, Rivolta J, Grassini C, Caratozzolo S, Alberici A, Marengoni A, Pilotto A, Borroni B, Padovani A, Benussi A. Silvestri C, et al. Among authors: borroni b. Neurol Clin Pract. 2024 Jun;14(3):e200299. doi: 10.1212/CPJ.0000000000200299. Epub 2024 Apr 18. Neurol Clin Pract. 2024. PMID: 38720954
520 results