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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: callegari i. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Natalizumab in cerebrospinal fluid and breastmilk of patients with multiple sclerosis.
Callegari I, Schneider M, Aebischer V, Voortman MM, Proschmann U, Ziemssen T, Lindberg R, Fischer-Barnicol B, Khalil M, Kappos L, Kuhle J, Sanderson NSR, Derfuss T. Callegari I, et al. Ther Adv Neurol Disord. 2023 Jan 30;16:17562864221150040. doi: 10.1177/17562864221150040. eCollection 2023. Ther Adv Neurol Disord. 2023. PMID: 36741352 Free PMC article.
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.
Martinez-Martinez L, Lleixà MC, Boera-Carnicero G, Cortese A, Devaux J, Siles A, Rajabally Y, Martinez-Piñeiro A, Carvajal A, Pardo J, Delmont E, Attarian S, Diaz-Manera J, Callegari I, Marchioni E, Franciotta D, Benedetti L, Lauria G, de la Calle Martin O, Juárez C, Illa I, Querol L. Martinez-Martinez L, et al. Among authors: callegari i. J Neuroinflammation. 2017 Nov 16;14(1):224. doi: 10.1186/s12974-017-0996-1. J Neuroinflammation. 2017. PMID: 29145880 Free PMC article.
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database.
Doneddu PE, Cocito D, Manganelli F, Fazio R, Briani C, Filosto M, Benedetti L, Mazzeo A, Marfia GA, Cortese A, Fierro B, Jann S, Beghi E, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Antonini G, Rosso T, Siciliano G, Cavaletti G, Liberatore G, Santoro L, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Toscano A, Mataluni G, Piccolo L, Cosentino G, Sabatelli M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):125-132. doi: 10.1136/jnnp-2018-318714. Epub 2018 Oct 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30297520 Free article.
Remarkable Rituximab Response on Tremor Related to Acute-Onset Chronic Inflammatory Demyelinating Polyradiculoneuropathy in an Antineurofascin155 Immunoglobulin G4-Seropositive Patient.
Demichelis C, Franciotta D, Cortese A, Callegari I, Serrati C, Mancardi GL, Schenone A, Leonardi A, Benedetti L. Demichelis C, et al. Among authors: callegari i. Mov Disord Clin Pract. 2018 Aug 24;5(5):559-560. doi: 10.1002/mdc3.12662. eCollection 2018 Sep-Oct. Mov Disord Clin Pract. 2018. PMID: 30637275 Free PMC article. No abstract available.
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: callegari i. 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.
44 results