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PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326.
Brain. 2023.
PMID: 36073231
Free PMC article.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V.
Kuipers DJS, et al. Among authors: fevga c.
Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15.
Ann Neurol. 2021.
PMID: 33236446
Free PMC article.
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Correcting Differential Gene Expression Analysis for Cyto-Architectural Alterations in Substantia Nigra of Parkinson's Disease Patients Reveals Known and Potential Novel Disease-Associated Genes and Pathways.
Ferraro F, Fevga C, Bonifati V, Mandemakers W, Mahfouz A, Reinders M.
Ferraro F, et al. Among authors: fevga c.
Cells. 2022 Jan 7;11(2):198. doi: 10.3390/cells11020198.
Cells. 2022.
PMID: 35053314
Free PMC article.
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AOPEP Homozygous Loss-of-Function Variant in an Indian Patient with Early-Onset Generalized Dystonia.
Fevga C, Ferraro F, Breedveld GJ, Savant Sankhla C, Bonifati V.
Fevga C, et al.
Mov Disord. 2022 Apr;37(4):874-875. doi: 10.1002/mds.28928. Epub 2022 Jan 24.
Mov Disord. 2022.
PMID: 35072283
Free PMC article.
No abstract available.
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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: fevga c.
Brain Commun. 2022 Jul 4;4(4):fcac175. doi: 10.1093/braincomms/fcac175. eCollection 2022.
Brain Commun. 2022.
PMID: 35855480
Free PMC article.
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Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case.
Fevga C, Ferraro F, Breedveld GJ, Savant Sankhla C, Bonifati V.
Fevga C, et al.
Parkinsonism Relat Disord. 2022 Oct;103:141-143. doi: 10.1016/j.parkreldis.2022.08.031. Epub 2022 Sep 9.
Parkinsonism Relat Disord. 2022.
PMID: 36115200
No abstract available.
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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.
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.
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Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family.
Agarwal PA, Kuipers DJS, Fevga C, Agrawal S, Ravat SH, Breedveld GJ, Sethi K, Bonifati V.
Agarwal PA, et al. Among authors: fevga c.
Mov Disord. 2022 Oct;37(10):2166-2167. doi: 10.1002/mds.29158. Epub 2022 Jul 15.
Mov Disord. 2022.
PMID: 35838632
No abstract available.
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