Response to: The use of guidelines to assess the risk of malignant hyperthermia in individuals with a RYR1 variant
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| Published in: | Neuromuscular disorders : NMD Vol. 35; p. 39 |
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| Main Authors: | , , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
England
Elsevier B.V
01-02-2024
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| Online Access: | Get full text |
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| Author | De Bleecker, J. Janssens, L. Milazzo, M. Symoens, S. Herdewyn, S. De Puydt, J. |
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| Author_xml | – sequence: 1 givenname: S. surname: Herdewyn fullname: Herdewyn, S. organization: Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, Ghent 9000, Belgium – sequence: 2 givenname: J. surname: De Bleecker fullname: De Bleecker, J. organization: Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, Ghent 9000, Belgium – sequence: 3 givenname: L. surname: Janssens fullname: Janssens, L. organization: Department of Neurology, Brussels University Hospital, Laarbeeklaan 101, Jette 1090, Belgium – sequence: 4 givenname: S. surname: Symoens fullname: Symoens, S. organization: Faculty of Medical and Health Sciences, Ghent University, Corneel Heymanslaan 10, Ghent 9000, Belgium – sequence: 5 givenname: M. surname: Milazzo fullname: Milazzo, M. organization: Center for Medical Genetics Ghent, Ghent University Hospital, Corneel Heymanslaan 10, Ghent 9000, Belgium – sequence: 6 givenname: J. surname: De Puydt fullname: De Puydt, J. organization: University Hospital of Antwerp, Drie Eikenstraat 655, Edegem 2650, Belgium |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/38237271$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1111/ene.15526 10.1038/s41436-021-01125-w 10.1093/hmg/ddac145 10.1016/j.nmd.2022.10.003 |
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| Copyright | 2023 |
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| References | Voermans, Yang, Schouten, Girard, Stowell, Riazi (bib1001) 2023 van den Bersselaar, Heytens, Silva, Reimann, Tasca, Díaz-Cambronero (bib0001) 2022; 29 Johnston, Dirksen, Girard, Hopkins, Kraeva, Ognoon (bib0003) 2022; 31 Janssens, De Puydt, Milazzo, Symoens, De Bleecker, Herdewyn (bib0001a) 2022; 32 Johnston, Dirksen, Girard, Gonsalves, Hopkins, Riazi (bib0002) 2021; 23 Johnston (10.1016/j.nmd.2023.11.007_bib0003) 2022; 31 Janssens (10.1016/j.nmd.2023.11.007_bib0001a) 2022; 32 Voermans (10.1016/j.nmd.2023.11.007_bib1001) 2023 van den Bersselaar (10.1016/j.nmd.2023.11.007_bib0001) 2022; 29 Johnston (10.1016/j.nmd.2023.11.007_bib0002) 2021; 23 |
| References_xml | – volume: 31 start-page: 4087 year: 2022 end-page: 4093 ident: bib0003 article-title: Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility publication-title: Hum Mol Genet contributor: fullname: Ognoon – volume: 32 start-page: 864 year: 2022 end-page: 869 ident: bib0001a article-title: Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene publication-title: Neuromuscul Disord contributor: fullname: Herdewyn – volume: 29 start-page: 3486 year: 2022 end-page: 3507 ident: bib0001 article-title: European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders publication-title: Eur J Neurol contributor: fullname: Díaz-Cambronero – year: 2023 ident: bib1001 article-title: The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant publication-title: Neuromuscul Disord contributor: fullname: Riazi – volume: 23 start-page: 1288 year: 2021 end-page: 1295 ident: bib0002 article-title: Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility publication-title: Genet Med: Off J Am Coll Med Genet contributor: fullname: Riazi – volume: 29 start-page: 3486 issue: 12 year: 2022 ident: 10.1016/j.nmd.2023.11.007_bib0001 article-title: European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders publication-title: Eur J Neurol doi: 10.1111/ene.15526 contributor: fullname: van den Bersselaar – volume: 23 start-page: 1288 issue: 7 year: 2021 ident: 10.1016/j.nmd.2023.11.007_bib0002 article-title: Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility publication-title: Genet Med: Off J Am Coll Med Genet doi: 10.1038/s41436-021-01125-w contributor: fullname: Johnston – volume: 31 start-page: 4087 issue: 23 year: 2022 ident: 10.1016/j.nmd.2023.11.007_bib0003 article-title: Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility publication-title: Hum Mol Genet doi: 10.1093/hmg/ddac145 contributor: fullname: Johnston – year: 2023 ident: 10.1016/j.nmd.2023.11.007_bib1001 article-title: The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant publication-title: Neuromuscul Disord contributor: fullname: Voermans – volume: 32 start-page: 864 issue: 11-12 year: 2022 ident: 10.1016/j.nmd.2023.11.007_bib0001a article-title: Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene publication-title: Neuromuscul Disord doi: 10.1016/j.nmd.2022.10.003 contributor: fullname: Janssens |
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| Title | Response to: The use of guidelines to assess the risk of malignant hyperthermia in individuals with a RYR1 variant |
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