Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.
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| Title: | Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant. |
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| Authors: | Lim SY; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Toh TS; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Hor JW; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Lim JL; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Lit LC; Department of Physiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Ahmad-Annuar A; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tay YW; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Foo JN; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.; Laboratory of Neurogenetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore., Ng EY; Department of Neurology, National Neuroscience Institute, Singapore, Singapore., Muthusamy KA; Division of Neurosurgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Mohamed Ibrahim N; Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia., Ibrahim KA; Department of Medicine, Hospital Sultanah Nur Zahirah, Kuala Terengganu, Terengganu, Malaysia., Tan LCS; Department of Neurology, National Neuroscience Institute, Singapore, Singapore., Zulkefli J; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Immunogenetic Unit, Allergy and Immunology Research Centre, Institute for Medical Research, National Institutes of Health Complex, Ministry of Health Malaysia, Setia Alam, Malaysia., Khairul Anuar AN; Department of Physiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Black K; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK., Lis P; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK., Xie F; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China., Cen Z; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China., Lim KS; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Lohmann K; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany., Padmanabhan S; The Michael J. Fox Foundation for Parkinson's Research, New York, NY, USA., Alessi DR; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK., Luo W; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China., Tan EK; Department of Neurology, National Neuroscience Institute, Singapore, Singapore., Sammler E; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK. e.m.sammler@dundee.ac.uk.; Division of Neuroscience, School of Medicine, University of Dundee, Dundee, UK. e.m.sammler@dundee.ac.uk., Tan AH; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. aihuey.tan@gmail.com.; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. aihuey.tan@gmail.com. |
| Source: | NPJ Parkinson's disease [NPJ Parkinsons Dis] 2025 Feb 23; Vol. 11 (1), pp. 34. Date of Electronic Publication: 2025 Feb 23. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39988587 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Lim+SY%22">Lim SY</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Toh+TS%22">Toh TS</searchLink>; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Hor+JW%22">Hor JW</searchLink>; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lim+JL%22">Lim JL</searchLink>; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lit+LC%22">Lit LC</searchLink>; Department of Physiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Ahmad-Annuar+A%22">Ahmad-Annuar A</searchLink>; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Tay+YW%22">Tay YW</searchLink>; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Foo+JN%22">Foo JN</searchLink>; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.; Laboratory of Neurogenetics, Genome Institute of Singapore, A*STAR, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Ng+EY%22">Ng EY</searchLink>; Department of Neurology, National Neuroscience Institute, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Muthusamy+KA%22">Muthusamy KA</searchLink>; Division of Neurosurgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Mohamed+Ibrahim+N%22">Mohamed Ibrahim N</searchLink>; Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Ibrahim+KA%22">Ibrahim KA</searchLink>; Department of Medicine, Hospital Sultanah Nur Zahirah, Kuala Terengganu, Terengganu, Malaysia.<br /><searchLink fieldCode="AU" term="%22Tan+LCS%22">Tan LCS</searchLink>; Department of Neurology, National Neuroscience Institute, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Zulkefli+J%22">Zulkefli J</searchLink>; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Immunogenetic Unit, Allergy and Immunology Research Centre, Institute for Medical Research, National Institutes of Health Complex, Ministry of Health Malaysia, Setia Alam, Malaysia.<br /><searchLink fieldCode="AU" term="%22Khairul+Anuar+AN%22">Khairul Anuar AN</searchLink>; Department of Physiology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Black+K%22">Black K</searchLink>; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Lis+P%22">Lis P</searchLink>; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Xie+F%22">Xie F</searchLink>; Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China.<br /><searchLink fieldCode="AU" term="%22Cen+Z%22">Cen Z</searchLink>; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China.<br /><searchLink fieldCode="AU" term="%22Lim+KS%22">Lim KS</searchLink>; Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lohmann+K%22">Lohmann K</searchLink>; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.<br /><searchLink fieldCode="AU" term="%22Padmanabhan+S%22">Padmanabhan S</searchLink>; The Michael J. Fox Foundation for Parkinson's Research, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Alessi+DR%22">Alessi DR</searchLink>; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK.<br /><searchLink fieldCode="AU" term="%22Luo+W%22">Luo W</searchLink>; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, PR China.<br /><searchLink fieldCode="AU" term="%22Tan+EK%22">Tan EK</searchLink>; Department of Neurology, National Neuroscience Institute, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Sammler+E%22">Sammler E</searchLink>; Medical Research Council Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee, UK. e.m.sammler@dundee.ac.uk.; Division of Neuroscience, School of Medicine, University of Dundee, Dundee, UK. e.m.sammler@dundee.ac.uk.<br /><searchLink fieldCode="AU" term="%22Tan+AH%22">Tan AH</searchLink>; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. aihuey.tan@gmail.com.; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. aihuey.tan@gmail.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101675390%22">NPJ Parkinson's disease</searchLink> [NPJ Parkinsons Dis] 2025 Feb 23; Vol. 11 (1), pp. 34. <i>Date of Electronic Publication: </i>2025 Feb 23. – 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="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101675390 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2373-8057 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223738057%22">23738057 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Parkinsons Dis <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39988587 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41531-025-00884-6 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 34 Titles: – TitleFull: Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lim SY – PersonEntity: Name: NameFull: Toh TS – PersonEntity: Name: NameFull: Hor JW – PersonEntity: Name: NameFull: Lim JL – PersonEntity: Name: NameFull: Lit LC – PersonEntity: Name: NameFull: Ahmad-Annuar A – PersonEntity: Name: NameFull: Tay YW – PersonEntity: Name: NameFull: Foo JN – PersonEntity: Name: NameFull: Ng EY – PersonEntity: Name: NameFull: Muthusamy KA – PersonEntity: Name: NameFull: Mohamed Ibrahim N – PersonEntity: Name: NameFull: Ibrahim KA – PersonEntity: Name: NameFull: Tan LCS – PersonEntity: Name: NameFull: Zulkefli J – PersonEntity: Name: NameFull: Khairul Anuar AN – PersonEntity: Name: NameFull: Black K – PersonEntity: Name: NameFull: Lis P – PersonEntity: Name: NameFull: Xie F – PersonEntity: Name: NameFull: Cen Z – PersonEntity: Name: NameFull: Lim KS – PersonEntity: Name: NameFull: Lohmann K – PersonEntity: Name: NameFull: Padmanabhan S – PersonEntity: Name: NameFull: Alessi DR – PersonEntity: Name: NameFull: Luo W – PersonEntity: Name: NameFull: Tan EK – PersonEntity: Name: NameFull: Sammler E – PersonEntity: Name: NameFull: Tan AH IsPartOfRelationships: – BibEntity: Dates: – D: 23 M: 02 Text: 2025 Feb 23 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 2373-8057 Numbering: – Type: volume Value: 11 – Type: issue Value: 1 Titles: – TitleFull: NPJ Parkinson's disease Type: main |
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