HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
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| Title: | HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. |
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| Authors: | Malcorps M; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Amor-Barris S; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Vilimiene R; Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Armirola-Ricaurte C; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Grigalioniene K; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Ekshteyn A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Morkuniene A; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Vaitkevicius A; Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., De Vriendt E; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Ambrozaityte L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Utkus A; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Jordanova A; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. Albena.jordanova@uantwerpen.vib.be.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. Albena.jordanova@uantwerpen.vib.be.; Department of Medical Chemistry and Biochemistry, Medical University - Sofia, Sofia, Bulgaria. Albena.jordanova@uantwerpen.vib.be., Peeters K; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 14; Vol. 17 (1), pp. 374. Date of Electronic Publication: 2022 Oct 14. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36242072 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Malcorps+M%22">Malcorps M</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Amor-Barris+S%22">Amor-Barris S</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Burnyte+B%22">Burnyte B</searchLink>; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Vilimiene+R%22">Vilimiene R</searchLink>; Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Armirola-Ricaurte+C%22">Armirola-Ricaurte C</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Grigalioniene+K%22">Grigalioniene K</searchLink>; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Ekshteyn+A%22">Ekshteyn A</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Morkuniene+A%22">Morkuniene A</searchLink>; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Vaitkevicius+A%22">Vaitkevicius A</searchLink>; Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22De+Vriendt+E%22">De Vriendt E</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Baets+J%22">Baets J</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Scherer+SS%22">Scherer SS</searchLink>; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Ambrozaityte+L%22">Ambrozaityte L</searchLink>; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Utkus+A%22">Utkus A</searchLink>; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.<br /><searchLink fieldCode="AU" term="%22Jordanova+A%22">Jordanova A</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. Albena.jordanova@uantwerpen.vib.be.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. Albena.jordanova@uantwerpen.vib.be.; Department of Medical Chemistry and Biochemistry, Medical University - Sofia, Sofia, Bulgaria. Albena.jordanova@uantwerpen.vib.be.<br /><searchLink fieldCode="AU" term="%22Peeters+K%22">Peeters K</searchLink>; Molecular Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2022 Oct 14; Vol. 17 (1), pp. 374. <i>Date of Electronic Publication: </i>2022 Oct 14. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36242072 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-022-02541-0 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 374 Titles: – TitleFull: HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Malcorps M – PersonEntity: Name: NameFull: Amor-Barris S – PersonEntity: Name: NameFull: Burnyte B – PersonEntity: Name: NameFull: Vilimiene R – PersonEntity: Name: NameFull: Armirola-Ricaurte C – PersonEntity: Name: NameFull: Grigalioniene K – PersonEntity: Name: NameFull: Ekshteyn A – PersonEntity: Name: NameFull: Morkuniene A – PersonEntity: Name: NameFull: Vaitkevicius A – PersonEntity: Name: NameFull: De Vriendt E – PersonEntity: Name: NameFull: Baets J – PersonEntity: Name: NameFull: Scherer SS – PersonEntity: Name: NameFull: Ambrozaityte L – PersonEntity: Name: NameFull: Utkus A – PersonEntity: Name: NameFull: Jordanova A – PersonEntity: Name: NameFull: Peeters K IsPartOfRelationships: – BibEntity: Dates: – D: 14 M: 10 Text: 2022 Oct 14 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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