@article{0c77a1e1ad9547a8b2ec08559625bc73,
title = "Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease",
abstract = "Bi-allelic mutations in FBXO7 are classically associated with a complex phenotype, known as parkinsonian-pyramidal syndrome. We describe two brothers affected by typical early onset Parkinson's disease (EOPD), who carry novel compound heterozygous variants in FBXO7. Our report highlights that typical EOPD can be part of an expanding FBXO7-related phenotype.",
keywords = "EOPD, FBXO7, Pathogenic variant, Typical early-onset Parkinson's disease",
author = "{Keller Sarmiento}, {Ignacio J.} and Mitra Afshari and Lisa Kinsley and Vincenzo Silani and Akhtar, {Rizwan S.} and Tanya Simuni and Lubbe, {Steven J.} and Dimitri Krainc and Mencacci, {Niccol{\`o} E.}",
note = "Funding Information: N.E.M. is funded by a Parkinson's Foundation grant. Funding Information: I.J.K.S. is supported by the Align Sience Across Parkinson's (ASAP) Global Parkinson's Genetics Program (GP2). Funding Information: N.E.M. is funded by a Parkinson's Foundation grant.The work of the PDMDC Biorepository is supported by a generous gift from the Malkin Family.V.S. received compensation for consulting services and/or speaking activities from AveXis, Cytokinetics, Italfarmaco, Liquidweb S.r.l., Novartis Pharma AG and Zambon. He receives or has received research supports form the Italian Ministry of Health, AriSLA, and E-Rare Joint Transnational Call. He is in the Editorial Board of Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, European Neurology, American Journal of Neurodegenerative Diseases, Frontiers in Neurology. Publisher Copyright: {\textcopyright} 2022 Elsevier Ltd",
year = "2022",
month = nov,
doi = "10.1016/j.parkreldis.2022.10.014",
language = "English (US)",
volume = "104",
pages = "88--90",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
}