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Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

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Title: Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.
Authors: Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Centro Nacional de Análisis Genómico, Barcelona, Spain., Carter MT; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Hamilton LE; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., McMillan HJ; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 802-807. Date of Electronic Publication: 2025 Aug 14.
Publication Type: Journal Article; Case Reports; Review
Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.
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  Data: <searchLink fieldCode="AU" term="%22Eisenkölbl+A%22">Eisenkölbl A</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Lochmüller+H%22">Lochmüller H</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Centro Nacional de Análisis Genómico, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Carter+MT%22">Carter MT</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Hamilton+LE%22">Hamilton LE</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22McMillan+HJ%22">McMillan HJ</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
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  Data: <searchLink fieldCode="JN" term="%22101649948%22">Journal of neuromuscular diseases</searchLink> [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 802-807. <i>Date of Electronic Publication: </i>2025 Aug 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IOS+Press%22">IOS Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101649948 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2214-3602 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222143599%22">22143599 </searchLink><i>NLM ISO Abbreviation: </i>J Neuromuscul Dis <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1177/22143602251369227
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      – Code: eng
        Text: English
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        StartPage: 802
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      – TitleFull: Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.
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            NameFull: Eisenkölbl A
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            NameFull: Lochmüller H
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            NameFull: Carter MT
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            – D: 01
              M: 07
              Text: 2026 Jul
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              Y: 2026
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              Value: 13
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              Value: 4
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            – TitleFull: Journal of neuromuscular diseases
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