HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

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Title: HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
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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  Data: HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
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  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.
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  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.
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  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
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