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PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Among authors: ferraro f. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.
Fevga C, Park Y, Lohmann E, Kievit AJ, Breedveld GJ, Ferraro F, de Boer L, van Minkelen R, Hanagasi H, Boon A, Wang W, Petsko GA, Hoang QQ, Emre M, Bonifati V. Fevga C, et al. Among authors: ferraro f. Parkinsonism Relat Disord. 2021 Aug;89:63-72. doi: 10.1016/j.parkreldis.2021.06.023. Epub 2021 Jun 29. Parkinsonism Relat Disord. 2021. PMID: 34229155 Free PMC article.
A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia.
Fanciulli A, Leys F, Lehner F, Sidoroff V, Ruf VC, Raccagni C, Mahlknecht P, Kuipers DJS, van IJcken WFJ, Stockner H, Musacchio T, Volkmann J, Monoranu CM, Stankovic I, Breedveld G, Ferraro F, Fevga C, Windl O, Herms J, Kiechl S, Poewe W, Seppi K, Stefanova N, Scholz SW, Bonifati V, Wenning GK. Fanciulli A, et al. Among authors: ferraro f. Brain Commun. 2022 Jul 4;4(4):fcac175. doi: 10.1093/braincomms/fcac175. eCollection 2022. Brain Commun. 2022. PMID: 35855480 Free PMC article.
514 results