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VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
Monfrini E, Spagnolo F, Canesi M, Seresini A, Rini A, Passarella B, Percetti M, Seia M, Goldwurm S, Cereda V, Comi GP, Pezzoli G, Di Fonzo A. Monfrini E, et al. Among authors: comi gp. Parkinsonism Relat Disord. 2022 Jan;94:37-39. doi: 10.1016/j.parkreldis.2021.11.031. Epub 2021 Dec 1. Parkinsonism Relat Disord. 2022. PMID: 34875562 Review.
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Bitetto G, Malaguti MC, Ceravolo R, Monfrini E, Straniero L, Morini A, Di Giacopo R, Frosini D, Palermo G, Biella F, Ronchi D, Duga S, Taroni F, Corti S, Comi GP, Bresolin N, Giometto B, Di Fonzo A. Bitetto G, et al. Among authors: comi gp. Parkinsonism Relat Disord. 2020 May;74:1-5. doi: 10.1016/j.parkreldis.2020.03.018. Epub 2020 Apr 2. Parkinsonism Relat Disord. 2020. PMID: 32259769 Free article.
Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.
Buongarzone G, Monfrini E, Franco G, Trezzi I, Borellini L, Frattini E, Melzi V, Di Caprio AC, Ronchi D, Monzio Compagnoni G, Cogiamanian F, Ardolino G, Bresolin N, Comi GP, Corti S, Di Fonzo A. Buongarzone G, et al. Among authors: comi gp. Parkinsonism Relat Disord. 2017 Jun;39:87-88. doi: 10.1016/j.parkreldis.2017.03.007. Epub 2017 Mar 9. Parkinsonism Relat Disord. 2017. PMID: 28318986 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: comi gp. 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.
Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson's disease.
Riboldi GM, Vialle RA, Navarro E, Udine E, de Paiva Lopes K, Humphrey J, Allan A, Parks M, Henderson B, Astudillo K, Argyrou C, Zhuang M, Sikder T, Oriol Narcis J, Kumar SD, Janssen W, Sowa A, Comi GP, Di Fonzo A, Crary JF, Frucht SJ, Raj T. Riboldi GM, et al. Among authors: comi gp. Mol Neurodegener. 2022 Aug 17;17(1):52. doi: 10.1186/s13024-022-00554-8. Mol Neurodegener. 2022. PMID: 35978378 Free PMC article.
The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.
Corrado L, De Marchi F, Tunesi S, Oggioni GD, Carecchio M, Magistrelli L, Tesei S, Riboldazzi G, Di Fonzo A, Locci C, Trezzi I, Zangaglia R, Cereda C, D'Alfonso S, Magnani C, Comi GP, Bono G, Pacchetti C, Cantello R, Goldwurm S, Comi C. Corrado L, et al. Among authors: comi gp, comi c. Front Neurol. 2018 Mar 29;9:213. doi: 10.3389/fneur.2018.00213. eCollection 2018. Front Neurol. 2018. PMID: 29662465 Free PMC article.
Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: comi gp. J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042. J Neurol Sci. 2011. PMID: 21689831 Free PMC article.
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP. Ronchi D, et al. Among authors: comi gp. Biochem Biophys Res Commun. 2011 Aug 26;412(2):245-8. doi: 10.1016/j.bbrc.2011.07.076. Epub 2011 Jul 27. Biochem Biophys Res Commun. 2011. PMID: 21819970
514 results