Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
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| Title: | Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. |
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| Authors: | Suetterlin K; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; AGE Research Group, NIHR Newcastle Biomedical Research Centre, Newcastle-upon-Tyne Hospitals NHS Foundation Trust and Newcastle University, Newcastle-upon-Tyne, UK., Matthews E; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Atkinson Morley Neuromuscular Centre, Department of Neurology, St Georges University Hospitals NHS Foundation Trust, London, UK., Sud R; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., McCall S; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., Fialho D; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, King's College Hospital, London, UK., Burge J; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, King's College Hospital, London, UK., Jayaseelan D; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Haworth A; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., Sweeney MG; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK., Schorge S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Department of Pharmacology, UCL School of Pharmacy, London, UK., Hanna MG; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Männikkö R; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK. |
| Source: | Brain : a journal of neurology [Brain] 2022 Apr 18; Vol. 145 (2), pp. 607-620. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awab344 |
