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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: borellini l. 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: borellini l. 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: borellini l. 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.
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Monfrini E, Cogiamanian F, Salani S, Straniero L, Fagiolari G, Garbellini M, Carsana E, Borellini L, Biella F, Moggio M, Bresolin N, Corti S, Duga S, Comi GP, Aureli M, Di Fonzo A. Monfrini E, et al. Among authors: borellini l. Ann Neurol. 2021 Apr;89(4):834-839. doi: 10.1002/ana.26021. Epub 2021 Feb 2. Ann Neurol. 2021. PMID: 33452836 Free PMC article.
36 results