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Page 1
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: curro r. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cortese A, et al. Among authors: curro r. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. Brain. 2020. PMID: 32040566 Free PMC article.
Impact of multiple sclerosis risk loci in postinfectious neurological syndromes.
Martinelli-Boneschi F, Currò R, Santoro S, Berzero G, Sorosina M, Ferrè L, Mascia E, Peroni S, Comi G, Gugliemi A, Vegezzi E, Callegari I, Filippi M, Cortese A, Esposito F, Clarelli F, Marchioni E. Martinelli-Boneschi F, et al. Among authors: curro r. Mult Scler Relat Disord. 2020 Sep;44:102326. doi: 10.1016/j.msard.2020.102326. Epub 2020 Jun 24. Mult Scler Relat Disord. 2020. PMID: 32615529
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Reilly MM. Cortese A, et al. Among authors: curro r. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17. J Neurol Neurosurg Psychiatry. 2020. PMID: 32943585 Free PMC article. No abstract available.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Unusual upper limb features in SORD neuropathy.
Record CJ, Pipis M, Blake J, Curro R, Lunn MP, Rossor AM, Laura M, Cortese A, Reilly MM. Record CJ, et al. Among authors: curro r. J Peripher Nerv Syst. 2022 Jun;27(2):175-177. doi: 10.1111/jns.12492. Epub 2022 Apr 13. J Peripher Nerv Syst. 2022. PMID: 35419909 No abstract available.
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study.
Vegezzi E, Cortese A, Bergsland N, Mussinelli R, Paoletti M, Solazzo F, Currò R, Ascagni L, Callegari I, Quartesan I, Lozza A, Deligianni X, Santini F, Marchioni E, Cosentino G, Alfonsi E, Tassorelli C, Bastianello S, Merlini G, Palladini G, Obici L, Pichiecchio A. Vegezzi E, et al. Among authors: curro r. J Neurol. 2023 Jan;270(1):328-339. doi: 10.1007/s00415-022-11336-z. Epub 2022 Sep 6. J Neurol. 2023. PMID: 36064814 Free PMC article.
30 results