Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
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| Title: | Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity. |
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| Authors: | Kekou K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Svingou M; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Vogiatzakis N; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Nitsa E; Postgraduate Program in Biostatistics School of Medicine, National and Kapodistrian University of Athens, Athens, Greece., Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Tzetis M; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Mitrakos A; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece., Tsaroucha C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Selenti N; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Papadimas GK; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Papadopoulos C; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Lochmuller H; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada., Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece. |
| Source: | Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2023 Jul-Dec; Vol. 23 (11), pp. 999-1010. Date of Electronic Publication: 2023 Oct 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Taylor & Francis Country of Publication: England NLM ID: 101120777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8352 (Electronic) Linking ISSN: 14737159 NLM ISO Abbreviation: Expert Rev Mol Diagn Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37754746 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kekou+K%22">Kekou K</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Svingou+M%22">Svingou M</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Vogiatzakis+N%22">Vogiatzakis N</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Nitsa+E%22">Nitsa E</searchLink>; Postgraduate Program in Biostatistics School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Veltra+D%22">Veltra D</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tilemis+FN%22">Tilemis FN</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tzetis+M%22">Tzetis M</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Mitrakos+A%22">Mitrakos A</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; St. Sophia's Children's Hospital, Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tsaroucha+C%22">Tsaroucha C</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Selenti+N%22">Selenti N</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Papadimas+GK%22">Papadimas GK</searchLink>; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Papadopoulos+C%22">Papadopoulos C</searchLink>; Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Lochmuller+H%22">Lochmuller H</searchLink>; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Sofocleous+C%22">Sofocleous C</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101120777%22">Expert review of molecular diagnostics</searchLink> [Expert Rev Mol Diagn] 2023 Jul-Dec; Vol. 23 (11), pp. 999-1010. <i>Date of Electronic Publication: </i>2023 Oct 24. – 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="%22Taylor+%26+Francis%22">Taylor & Francis </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101120777 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-8352 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214737159%22">14737159 </searchLink><i>NLM ISO Abbreviation: </i>Expert Rev Mol Diagn <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37754746 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/14737159.2023.2264181 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 999 Titles: – TitleFull: Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kekou K – PersonEntity: Name: NameFull: Svingou M – PersonEntity: Name: NameFull: Vogiatzakis N – PersonEntity: Name: NameFull: Nitsa E – PersonEntity: Name: NameFull: Veltra D – PersonEntity: Name: NameFull: Marinakis NM – PersonEntity: Name: NameFull: Tilemis FN – PersonEntity: Name: NameFull: Tzetis M – PersonEntity: Name: NameFull: Mitrakos A – PersonEntity: Name: NameFull: Tsaroucha C – PersonEntity: Name: NameFull: Selenti N – PersonEntity: Name: NameFull: Papadimas GK – PersonEntity: Name: NameFull: Papadopoulos C – PersonEntity: Name: NameFull: Traeger-Synodinos J – PersonEntity: Name: NameFull: Lochmuller H – PersonEntity: Name: NameFull: Sofocleous C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2023 Jul-Dec Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1744-8352 Numbering: – Type: volume Value: 23 – Type: issue Value: 11 Titles: – TitleFull: Expert review of molecular diagnostics Type: main |
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