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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. Among authors: hadjivassiliou m. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Chronic idiopathic axonal polyneuropathy: a systematic review.
Zis P, Sarrigiannis PG, Rao DG, Hewamadduma C, Hadjivassiliou M. Zis P, et al. Among authors: hadjivassiliou m. J Neurol. 2016 Oct;263(10):1903-10. doi: 10.1007/s00415-016-8082-7. Epub 2016 Mar 9. J Neurol. 2016. PMID: 26961897 Review.
Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.
Hadjivassiliou M, Martindale J, Shanmugarajah P, Grünewald RA, Sarrigiannis PG, Beauchamp N, Garrard K, Warburton R, Sanders DS, Friend D, Duty S, Taylor J, Hoggard N. Hadjivassiliou M, et al. J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):301-309. doi: 10.1136/jnnp-2016-314863. Epub 2016 Dec 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 27965395
A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
Zis P, Reilly MM, Rao DG, Tomaselli P, Rossor AM, Hadjivassiliou M. Zis P, et al. Among authors: hadjivassiliou m. J Peripher Nerv Syst. 2017 Sep;22(3):224-225. doi: 10.1111/jns.12222. J Peripher Nerv Syst. 2017. PMID: 28543957 Free PMC article. No abstract available.
Anti-MAG associated cerebellar ataxia and response to rituximab.
Zis P, Rao DG, Hoggard N, Sarrigiannis PG, Hadjivassiliou M. Zis P, et al. Among authors: hadjivassiliou m. J Neurol. 2018 Jan;265(1):115-118. doi: 10.1007/s00415-017-8675-9. Epub 2017 Nov 20. J Neurol. 2018. PMID: 29159464
Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
Hadjivassiliou M, Currò R, Beauchamp N, Dominik N, Grunewald RA, Shanmugarajah P, Zis P, Hoggard N, Cortese A. Hadjivassiliou M, et al. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):171-174. doi: 10.1136/jnnp-2023-331381. J Neurol Neurosurg Psychiatry. 2024. PMID: 37414537 Free PMC article.
272 results