Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.
Saved in:
| Title: | Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. |
|---|---|
| Authors: | Chen DH; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Latimer C; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Yagi M; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Ndugga-Kabuye MK; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Heigham E; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Jayadev S; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Meabon JS; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Gomez CM; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Keene CD; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Cook DG; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Raskind WH; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle., Bird TD; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle. |
| Source: | Neurology. Genetics [Neurol Genet] 2020 Feb 10; Vol. 6 (2), pp. 1-13. Date of Electronic Publication: 2020 Feb 10 (Print Publication: 2020). |
| 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 |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32211513 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Chen+DH%22">Chen DH</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Latimer+C%22">Latimer C</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Yagi+M%22">Yagi M</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Ndugga-Kabuye+MK%22">Ndugga-Kabuye MK</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Heigham+E%22">Heigham E</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Jayadev+S%22">Jayadev S</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Meabon+JS%22">Meabon JS</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Gomez+CM%22">Gomez CM</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Keene+CD%22">Keene CD</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Cook+DG%22">Cook DG</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Raskind+WH%22">Raskind WH</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle.<br /><searchLink fieldCode="AU" term="%22Bird+TD%22">Bird TD</searchLink>; Department of Neurology (D.-H.C., E.H., S.J., T.D.B.), University of Washington, Seattle; Department of Pathology (C.L., C.D.K.), Neuropathology Division, University of Washington, Seattle; Geriatric Research, Education, and Clinical Center (GRECC) (M.Y., D.G.C., W.H.R., T.D.B.), VA Puget Sound Health Care System, Seattle, WA; Department of Medicine (M.K.N.-K., W.H.R., T.D.B.), Division of Medical Genetics, University of Washington, Seattle; Mental Illness Research, Education, and Clinical Center (MIRECC) (J.S.M., W.H.R.), VA Puget Sound Health Care System, Seattle, WA; Department of Psychiatry and Behavioral Sciences (J.S.M., W.H.R.), University of Washington, Seattle; Department of Neurology (C.M.G.), University of Chicago, IL; Department of Medicine (D.G.C.), Division of Gerontology and Geriatric Medicine, University of Washington, Seattle; and Department of Pharmacology (D.G.C.), University of Washington, Seattle. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101671068%22">Neurology. Genetics</searchLink> [Neurol Genet] 2020 Feb 10; Vol. 6 (2), pp. 1-13. <i>Date of Electronic Publication: </i>2020 Feb 10 (<i>Print Publication: </i>2020). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Published+for+the+American+Academy+of+Neurology+by+Wolters+Kluwer%22">Published for the American Academy of Neurology by Wolters Kluwer </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101671068 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2376-7839 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223767839%22">23767839 </searchLink><i>NLM ISO Abbreviation: </i>Neurol Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32211513 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1212/NXG.0000000000000397 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1 Titles: – TitleFull: Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chen DH – PersonEntity: Name: NameFull: Latimer C – PersonEntity: Name: NameFull: Yagi M – PersonEntity: Name: NameFull: Ndugga-Kabuye MK – PersonEntity: Name: NameFull: Heigham E – PersonEntity: Name: NameFull: Jayadev S – PersonEntity: Name: NameFull: Meabon JS – PersonEntity: Name: NameFull: Gomez CM – PersonEntity: Name: NameFull: Keene CD – PersonEntity: Name: NameFull: Cook DG – PersonEntity: Name: NameFull: Raskind WH – PersonEntity: Name: NameFull: Bird TD IsPartOfRelationships: – BibEntity: Dates: – D: 10 M: 02 Text: 2020 Feb 10 Type: published Y: 2020 Identifiers: – Type: issn-print Value: 2376-7839 Numbering: – Type: volume Value: 6 – Type: issue Value: 2 Titles: – TitleFull: Neurology. Genetics Type: main |
| ResultId | 1 |
