Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.
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| Title: | Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy. |
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| Authors: | Janßen, Sören1 (AUTHOR) soeren.janssen@rub.de, Erbe, Leoni S.2 (AUTHOR) leoni.erbe@rub.de, Kneifel, Moritz3 (AUTHOR) moritz.kneifel@rub.de, Vorgerd, Matthias3 (AUTHOR) matthias.vorgerd@bergmannsheil.de, Döring, Kristina2 (AUTHOR) kristina.doering@rub.de, Lubieniecki, Krzysztof P.2 (AUTHOR) krzysztof.lubieniecki@ruhr-uni-bochum.de, Lubieniecka, Joanna M.2 (AUTHOR) joanna.lubieniecka@rub.de, Gerding, Wanda M.2 (AUTHOR) wanda.gerding@rub.de, Casadei, Nicolas4,5 (AUTHOR) nicolas.casadei@med.uni-tuebingen.de, Güttsches, Anne-Katrin3 (AUTHOR), Heyer, Christoph6 (AUTHOR) christoph.heyer@rub.de, Lücke, Thomas1,7 (AUTHOR) thomas.luecke@rub.de, Nguyen, Hoa Huu Phuc2,7 (AUTHOR) huu.nguyen-r7w@rub.de, Köhler, Cornelia1,7 (AUTHOR) cornelia.koehler@kklbo.de, Hoffjan, Sabine2,7 (AUTHOR) sabine.hoffjan@rub.de |
| Source: | International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10867. 15p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 180275416 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Janßen%2C+Sören%22">Janßen, Sören</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> soeren.janssen@rub.de</i><br /><searchLink fieldCode="AR" term="%22Erbe%2C+Leoni+S%2E%22">Erbe, Leoni S.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> leoni.erbe@rub.de</i><br /><searchLink fieldCode="AR" term="%22Kneifel%2C+Moritz%22">Kneifel, Moritz</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> moritz.kneifel@rub.de</i><br /><searchLink fieldCode="AR" term="%22Vorgerd%2C+Matthias%22">Vorgerd, Matthias</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> matthias.vorgerd@bergmannsheil.de</i><br /><searchLink fieldCode="AR" term="%22Döring%2C+Kristina%22">Döring, Kristina</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> kristina.doering@rub.de</i><br /><searchLink fieldCode="AR" term="%22Lubieniecki%2C+Krzysztof+P%2E%22">Lubieniecki, Krzysztof P.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> krzysztof.lubieniecki@ruhr-uni-bochum.de</i><br /><searchLink fieldCode="AR" term="%22Lubieniecka%2C+Joanna+M%2E%22">Lubieniecka, Joanna M.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> joanna.lubieniecka@rub.de</i><br /><searchLink fieldCode="AR" term="%22Gerding%2C+Wanda+M%2E%22">Gerding, Wanda M.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> wanda.gerding@rub.de</i><br /><searchLink fieldCode="AR" term="%22Casadei%2C+Nicolas%22">Casadei, Nicolas</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<i> nicolas.casadei@med.uni-tuebingen.de</i><br /><searchLink fieldCode="AR" term="%22Güttsches%2C+Anne-Katrin%22">Güttsches, Anne-Katrin</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Heyer%2C+Christoph%22">Heyer, Christoph</searchLink><relatesTo>6</relatesTo> (AUTHOR)<i> christoph.heyer@rub.de</i><br /><searchLink fieldCode="AR" term="%22Lücke%2C+Thomas%22">Lücke, Thomas</searchLink><relatesTo>1,7</relatesTo> (AUTHOR)<i> thomas.luecke@rub.de</i><br /><searchLink fieldCode="AR" term="%22Nguyen%2C+Hoa+Huu+Phuc%22">Nguyen, Hoa Huu Phuc</searchLink><relatesTo>2,7</relatesTo> (AUTHOR)<i> huu.nguyen-r7w@rub.de</i><br /><searchLink fieldCode="AR" term="%22Köhler%2C+Cornelia%22">Köhler, Cornelia</searchLink><relatesTo>1,7</relatesTo> (AUTHOR)<i> cornelia.koehler@kklbo.de</i><br /><searchLink fieldCode="AR" term="%22Hoffjan%2C+Sabine%22">Hoffjan, Sabine</searchLink><relatesTo>2,7</relatesTo> (AUTHOR)<i> sabine.hoffjan@rub.de</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. Oct2024, Vol. 25 Issue 19, p10867. 15p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=180275416 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/ijms251910867 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 15 StartPage: 10867 Titles: – TitleFull: Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Janßen, Sören – PersonEntity: Name: NameFull: Erbe, Leoni S. – PersonEntity: Name: NameFull: Kneifel, Moritz – PersonEntity: Name: NameFull: Vorgerd, Matthias – PersonEntity: Name: NameFull: Döring, Kristina – PersonEntity: Name: NameFull: Lubieniecki, Krzysztof P. – PersonEntity: Name: NameFull: Lubieniecka, Joanna M. – PersonEntity: Name: NameFull: Gerding, Wanda M. – PersonEntity: Name: NameFull: Casadei, Nicolas – PersonEntity: Name: NameFull: Güttsches, Anne-Katrin – PersonEntity: Name: NameFull: Heyer, Christoph – PersonEntity: Name: NameFull: Lücke, Thomas – PersonEntity: Name: NameFull: Nguyen, Hoa Huu Phuc – PersonEntity: Name: NameFull: Köhler, Cornelia – PersonEntity: Name: NameFull: Hoffjan, Sabine IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 16616596 Numbering: – Type: volume Value: 25 – Type: issue Value: 19 Titles: – TitleFull: International Journal of Molecular Sciences Type: main |
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