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Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.

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Title: Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.
Authors: Pedullà G; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy., Morelli M; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy. Electronic address: m.morelli@unicz.it., Soliveri P; Parkinson Institute, ASST G. Pini-CTO, 20126, Milan, Italy., Reale C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Procopio R; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy., Felicetti A; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy., Quattrone A; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy., Annesi G; Institute for Biomedical Research and Innovation, National Research Council, 87050, Cosenza, Italy., Operto F; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy., Gambardella A; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy., Quattrone A; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy., Gagliardi M; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy.
Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2026 Apr; Vol. 145, pp. 108249. Date of Electronic Publication: 2026 Feb 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.
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  Data: <searchLink fieldCode="AU" term="%22Pedullà+G%22">Pedullà G</searchLink>; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Morelli+M%22">Morelli M</searchLink>; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy. Electronic address: m.morelli@unicz.it.<br /><searchLink fieldCode="AU" term="%22Soliveri+P%22">Soliveri P</searchLink>; Parkinson Institute, ASST G. Pini-CTO, 20126, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Reale+C%22">Reale C</searchLink>; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Procopio+R%22">Procopio R</searchLink>; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Felicetti+A%22">Felicetti A</searchLink>; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Quattrone+A%22">Quattrone A</searchLink>; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Annesi+G%22">Annesi G</searchLink>; Institute for Biomedical Research and Innovation, National Research Council, 87050, Cosenza, Italy.<br /><searchLink fieldCode="AU" term="%22Operto+F%22">Operto F</searchLink>; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Gambardella+A%22">Gambardella A</searchLink>; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Quattrone+A%22">Quattrone A</searchLink>; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Gagliardi+M%22">Gagliardi M</searchLink>; Neuroscience Research Center, Magna Graecia University, 88100, Catanzaro, Italy.
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  Data: <searchLink fieldCode="JN" term="%229513583%22">Parkinsonism & related disorders</searchLink> [Parkinsonism Relat Disord] 2026 Apr; Vol. 145, pp. 108249. <i>Date of Electronic Publication: </i>2026 Feb 18.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science%22">Elsevier Science </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9513583 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-5126 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213538020%22">13538020 </searchLink><i>NLM ISO Abbreviation: </i>Parkinsonism Relat Disord <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.parkreldis.2026.108249
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              Text: 2026 Apr
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