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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: grandis m. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Phenotypic clustering in MPZ mutations.
Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J. Shy ME, et al. Among authors: grandis m. Brain. 2004 Feb;127(Pt 2):371-84. doi: 10.1093/brain/awh048. Epub 2004 Jan 7. Brain. 2004. PMID: 14711881 Review.
Predictors of response to rituximab in patients with neuropathy and anti-myelin associated glycoprotein immunoglobulin M.
Benedetti L, Briani C, Grandis M, Vigo T, Gobbi M, Ghiglione E, Carpo M, Cocito D, Caporale CM, Sormani MP, Mancardi GL, Nobile-Orazio E, Schenone A. Benedetti L, et al. Among authors: grandis m. J Peripher Nerv Syst. 2007 Jun;12(2):102-7. doi: 10.1111/j.1529-8027.2007.00129.x. J Peripher Nerv Syst. 2007. PMID: 17565535 Clinical Trial.
Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.
Mandich P, Grandis M, Varese A, Geroldi A, Acquaviva M, Ciotti P, Gulli R, Doria-Lamba L, Fabrizi GM, Giribaldi G, Pizzuti A, Schenone A, Bellone E. Mandich P, et al. Among authors: grandis m. J Child Neurol. 2010 Jan;25(1):107-9. doi: 10.1177/0883073809334387. Epub 2009 May 11. J Child Neurol. 2010. PMID: 19435728
159 results