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NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Riboldi GM, Monfrini E, Stahl C, Frucht SJ. Riboldi GM, et al. Among authors: monfrini e. Tremor Other Hyperkinet Mov (N Y). 2022 Jun 15;12:21. doi: 10.5334/tohm.696. eCollection 2022. Tremor Other Hyperkinet Mov (N Y). 2022. PMID: 35949226 Free PMC article.
A Practical Approach to Early-Onset Parkinsonism.
Riboldi GM, Frattini E, Monfrini E, Frucht SJ, Di Fonzo A. Riboldi GM, et al. Among authors: monfrini e. J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815. J Parkinsons Dis. 2022. PMID: 34569973 Free PMC article. Review.
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
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Ronchi D, Monfrini E, Bonato S, Mancinelli V, Cinnante C, Salani S, Bordoni A, Ciscato P, Fortunato F, Villa M, Di Fonzo A, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: monfrini e. Ann Clin Transl Neurol. 2020 May;7(5):839-845. doi: 10.1002/acn3.51025. Epub 2020 Apr 24. Ann Clin Transl Neurol. 2020. PMID: 32329585 Free PMC article.
73 results