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A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.
Malaguti MC, Melzi V, Di Giacopo R, Monfrini E, Di Biase E, Franco G, Borellini L, Trezzi I, Monzio Compagnoni G, Fortis P, Feraco P, Orrico D, Cucurachi L, Donner D, Rizzuti M, Ronchi D, Bonato S, Bresolin N, Corti S, Comi GP, Di Fonzo A. Malaguti MC, et al. Among authors: monfrini e. Parkinsonism Relat Disord. 2015 Mar;21(3):337-9. doi: 10.1016/j.parkreldis.2015.01.001. Epub 2015 Jan 10. Parkinsonism Relat Disord. 2015. PMID: 25601130 No abstract available.
Mutational analysis of COQ2 in patients with MSA in Italy.
Ronchi D, Di Biase E, Franco G, Melzi V, Del Sorbo F, Elia A, Barzaghi C, Garavaglia B, Bergamini C, Fato R, Mora G, Del Bo R, Fortunato F, Borellini L, Trezzi I, Compagnoni GM, Monfrini E, Frattini E, Bonato S, Cogiamanian F, Ardolino G, Priori A, Bresolin N, Corti S, Comi GP, Di Fonzo A. Ronchi D, et al. Among authors: monfrini e. Neurobiol Aging. 2016 Sep;45:213.e1-213.e2. doi: 10.1016/j.neurobiolaging.2016.05.022. Epub 2016 Jun 7. Neurobiol Aging. 2016. PMID: 27394078
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: monfrini e. 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.
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola A, Carrera P, Di Fonzo A, Sassone J, Villa R, Poletti B, Ferrari M, Girotti F, Monfrini E, Buongarzone G, Silani V, Cinnante CM, Mignogna ML, D'Adamo P, Bonati MT. Ciammola A, et al. Among authors: monfrini e. Parkinsonism Relat Disord. 2017 Nov;44:142-146. doi: 10.1016/j.parkreldis.2017.08.021. Epub 2017 Aug 26. Parkinsonism Relat Disord. 2017. PMID: 28851564
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. 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.
73 results