A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism.

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Title: A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism.
Authors: Baviera-Muñoz R; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Martínez-Rubio D; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Sastre-Bataller I; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Campins-Romeu M; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Losada-López M; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Pérez-García J; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Novella-Maestre E; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Martínez-Torres I; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain., Espinós C; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.
Source: Neurology. Genetics [Neurol Genet] 2021 Nov 19; Vol. 7 (6), pp. e642. Date of Electronic Publication: 2021 Nov 19 (Print Publication: 2021).
Publication Type: Journal Article
Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism.
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  Data: <searchLink fieldCode="AU" term="%22Baviera-Muñoz+R%22">Baviera-Muñoz R</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Rubio+D%22">Martínez-Rubio D</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Sastre-Bataller+I%22">Sastre-Bataller I</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Campins-Romeu+M%22">Campins-Romeu M</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Losada-López+M%22">Losada-López M</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Pérez-García+J%22">Pérez-García J</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Novella-Maestre+E%22">Novella-Maestre E</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Martínez-Torres+I%22">Martínez-Torres I</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Espinós+C%22">Espinós C</searchLink>; Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.
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  Data: <searchLink fieldCode="JN" term="%22101671068%22">Neurology. Genetics</searchLink> [Neurol Genet] 2021 Nov 19; Vol. 7 (6), pp. e642. <i>Date of Electronic Publication: </i>2021 Nov 19 (<i>Print Publication: </i>2021).
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