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A de novo C19orf12 heterozygous mutation in a patient with MPAN.
Monfrini E, Melzi V, Buongarzone G, Franco G, Ronchi D, Dilena R, Scola E, Vizziello P, Bordoni A, Bresolin N, Comi GP, Corti S, Di Fonzo A. Monfrini E, et al. Among authors: di fonzo a. Parkinsonism Relat Disord. 2018 Mar;48:109-111. doi: 10.1016/j.parkreldis.2017.12.025. Epub 2017 Dec 27. Parkinsonism Relat Disord. 2018. PMID: 29295770 Free article. No abstract available.
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A. Monfrini E, et al. Among authors: di fonzo a. Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1. Parkinsonism Relat Disord. 2019. PMID: 30850329 Free article.
Clinical features and disease course of patients with acute ischaemic stroke just before the Italian index case: Was COVID-19 already there?
Pietroboni AM, Lanfranconi S, Novella A, Carandini T, Arighi A, Abati E, Brusa R, Costamagna G, Lazzeri G, Mauri E, Pozzato M, Sacchi L, Valcamonica G, Villa D, Bonato S, Comi GP, Bresolin N, Galimberti D, Scarpini E, Nobili A; Neurology-COVID-19 Group. Pietroboni AM, et al. Intern Emerg Med. 2021 Aug;16(5):1247-1252. doi: 10.1007/s11739-021-02634-x. Epub 2021 Feb 10. Intern Emerg Med. 2021. PMID: 33565035 Free PMC article.
Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study.
Lazzeri G, Franco G, Difonzo T, Carandina A, Gramegna C, Vergari M, Arienti F, Naci A, Scatà C, Monfrini E, Dias Rodrigues G, Montano N, Comi GP, Saetti MC, Tobaldini E, Di Fonzo A. Lazzeri G, et al. Among authors: di fonzo a. Front Neurol. 2022 Jun 16;13:912820. doi: 10.3389/fneur.2022.912820. eCollection 2022. Front Neurol. 2022. PMID: 35785342 Free PMC article.
186 results