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1994 2
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107 results

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Page 1
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: devigili g. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926972 Free PMC article.
Rasch-ionale for neurologists.
Vanhoutte EK, Hermans MC, Faber CG, Gorson KC, Merkies IS, Thonnard JL; PeriNomS Study Group. Vanhoutte EK, et al. J Peripher Nerv Syst. 2015 Sep;20(3):260-8. doi: 10.1111/jns.12122. J Peripher Nerv Syst. 2015. PMID: 26115370 Review.
Unraveling Autonomic Dysfunction in GBA-Related Parkinson's Disease.
Devigili G, Straccia G, Cereda E, Garavaglia B, Fedeli A, Elia AE, Piacentini SHMJ, Prioni S, Amami P, Invernizzi F, Andreasi NG, Romito LM, Eleopra R, Cilia R. Devigili G, et al. Mov Disord Clin Pract. 2023 Oct 13;10(11):1620-1638. doi: 10.1002/mdc3.13892. eCollection 2023 Nov. Mov Disord Clin Pract. 2023. PMID: 38026514 Free PMC article.
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol.
Colucci F, Avenali M, De Micco R, Fusar Poli M, Cerri S, Stanziano M, Bacila A, Cuconato G, Franco V, Franciotta D, Ghezzi C, Gastaldi M, Elia AE, Romito L, Devigili G, Leta V, Garavaglia B, Golfrè Andreasi N, Cazzaniga F, Reale C, Galandra C, Germani G, Mitrotti P, Ongari G, Palmieri I, Picascia M, Pichiecchio A, Verri M, Esposito F, Cirillo M, Di Nardo F, Aloisio S, Siciliano M, Prioni S, Amami P, Piacentini S, Bruzzone MG, Grisoli M, Moda F, Eleopra R, Tessitore A, Valente EM, Cilia R. Colucci F, et al. Among authors: devigili g. BMJ Neurol Open. 2023 Nov 24;5(2):e000535. doi: 10.1136/bmjno-2023-000535. eCollection 2023. BMJ Neurol Open. 2023. PMID: 38027469 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.
TRPA1 rare variants in chronic neuropathic and nociplastic pain patients.
Marchi M, Salvi E, Andelic M, Mehmeti E, D'Amato I, Cazzato D, Chiappori F, Lombardi R, Cartelli D, Devigili G, Dalla Bella E, Gerrits M, Almomani R, Malik RA, Ślęczkowska M, Mazzeo A, Gentile L, Dib-Hajj S, Waxman SG, Faber CG, Vecchio E, de Tommaso M, Lauria G. Marchi M, et al. Among authors: devigili g. Pain. 2023 Sep 1;164(9):2048-2059. doi: 10.1097/j.pain.0000000000002905. Epub 2023 Apr 19. Pain. 2023. PMID: 37079850 Free PMC article.
The Evolving Landscape of Small Fiber Neuropathy.
Devigili G, Lombardi R, Lauria G, Cazzato D. Devigili G, et al. Semin Neurol. 2025 Feb;45(1):132-144. doi: 10.1055/s-0044-1791823. Epub 2024 Oct 21. Semin Neurol. 2025. PMID: 39433284 Free article. Review.
Does sex influence the natural history of idiopathic adult-onset dystonia?
Velucci V, Idrissi S, Pellicciari R, Esposito M, Trinchillo A, Belvisi D, Fabbrini G, Ferrazzano G, Terranova C, Girlanda P, Majorana G, Rizzo V, Bono F, Idone G, Laterza V, Avanzino L, Di Biasio F, Marchese R, Castagna A, Ramella M, Lettieri C, Rinaldo S, Altavista MC, Polidori L, Bertolasi L, Tozzi MC, Erro R, Barone P, Barbero P, Ceravolo R, Mascia MM, Ercoli T, Muroni A, Artusi CA, Zibetti M, Scaglione CLM, Bentivoglio AR, Cotelli MS, Magistrelli L, Cossu G, Albanese A, Squintani GM, Schirinzi T, Gigante AF, Maderna L, Eleopra R, Pisani A, Cassano D, Romano M, Rizzo M, Berardelli A, Defazio G; Italian Dystonia Registry Participants. Velucci V, et al. J Neurol Neurosurg Psychiatry. 2024 Jul 15;95(8):784-790. doi: 10.1136/jnnp-2023-332927. J Neurol Neurosurg Psychiatry. 2024. PMID: 38429083
Do cerebrovascular risk factors impact the clinical expression of idiopathic isolated adult-onset dystonia?
Mascia MM, Belvisi D, Esposito M, Pellicciari R, Trinchillo A, Terranova C, Bertino S, Avanzino L, Di Biasio F, Bono F, Laterza V, Lettieri C, Eleopra R, Fabbrini G, Barbero P, Bertolasi L, Altavista MC, Erro R, Ceravolo R, Castagna A, Zibetti M, Bentivoglio AR, Cossu G, Magistrelli L, Scaglione C, Albanese A, Cotelli MS, Misceo S, Pisani A, Schirinzi T, Maderna L, Squintani G, Berardelli A, Defazio G; Italian Dystonia Registry Participants. Mascia MM, et al. Parkinsonism Relat Disord. 2023 Oct;115:105851. doi: 10.1016/j.parkreldis.2023.105851. Epub 2023 Sep 12. Parkinsonism Relat Disord. 2023. PMID: 37717501
107 results