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Page 1
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
Magri F, Antognozzi S, Ripolone M, Zanotti S, Napoli L, Ciscato P, Velardo D, Scuvera G, Nicotra V, Giacobbe A, Milani D, Fortunato F, Garbellini M, Sciacco M, Corti S, Comi GP, Ronchi D. Magri F, et al. Among authors: garbellini m. Skelet Muscle. 2022 Sep 29;12(1):23. doi: 10.1186/s13395-022-00306-8. Skelet Muscle. 2022. PMID: 36175989 Free PMC article. Review.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, Polimeni V, Salani S, Pezzoli L, Fortunato F, Bellini M, Piga D, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Mangili G, Mosca F, Corti S, Iascone M, Comi GP. Ronchi D, et al. Among authors: garbellini m. Eur J Hum Genet. 2023 Dec;31(12):1414-1420. doi: 10.1038/s41431-023-01433-6. Epub 2023 Jul 19. Eur J Hum Genet. 2023. PMID: 37468577
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Rizzo F, Bono S, Ruepp MD, Salani S, Ottoboni L, Abati E, Melzi V, Cordiglieri C, Pagliarani S, De Gioia R, Anastasia A, Taiana M, Garbellini M, Lodato S, Kunderfranco P, Cazzato D, Cartelli D, Lonati C, Bresolin N, Comi G, Nizzardo M, Corti S. Rizzo F, et al. Among authors: garbellini m. Cell Mol Life Sci. 2023 Nov 25;80(12):373. doi: 10.1007/s00018-023-05018-w. Cell Mol Life Sci. 2023. PMID: 38007410 Free PMC article.
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: garbellini m. 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.
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations.
Monfrini E, Ronchi D, Franco G, Garbellini M, Straniero L, Scola E, Arienti F, Duga S, Comi GP, Bresolin N, Di Fonzo A. Monfrini E, et al. Among authors: garbellini m. Neurol Genet. 2020 Jul 13;6(5):e488. doi: 10.1212/NXG.0000000000000488. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 32802952 Free PMC article. No abstract available.
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, Criscuolo C, Dati G, De Rosa A, Eleopra R, Fabbrini G, Fadda L, Garbellini M, Minafra B, Onofrj M, Pacchetti C, Palmieri I, Pellecchia MT, Petracca M, Picillo M, Pisani A, Vallelunga A, Zangaglia R, Di Fonzo A, Morgante F, Valente EM; ITA-GENE-PD Study Group. Petrucci S, et al. Among authors: garbellini m. Mov Disord. 2020 Nov;35(11):2106-2111. doi: 10.1002/mds.28195. Epub 2020 Jul 13. Mov Disord. 2020. PMID: 32658388
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy.
Monzio Compagnoni G, Kleiner G, Samarani M, Aureli M, Faustini G, Bellucci A, Ronchi D, Bordoni A, Garbellini M, Salani S, Fortunato F, Frattini E, Abati E, Bergamini C, Fato R, Tabano S, Miozzo M, Serratto G, Passafaro M, Deleidi M, Silipigni R, Nizzardo M, Bresolin N, Comi GP, Corti S, Quinzii CM, Di Fonzo A. Monzio Compagnoni G, et al. Among authors: garbellini m. Stem Cell Reports. 2018 Nov 13;11(5):1185-1198. doi: 10.1016/j.stemcr.2018.09.007. Epub 2018 Oct 18. Stem Cell Reports. 2018. PMID: 30344007 Free PMC article.