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Author de Keyzer Y |
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Michot C ; Hubert L ; Romero NB ; Gouda A ; Mamoune A ; Mathew S ; Kirk E ; Viollet L ; Rahman S ; Bekri S ; Peters H ; McGill J ; Glamuzina E ; Farrar M ; von der Hagen M ; Alexander IE ; Kirmse B ; Barth M ; Laforet P ; Benlian P ; Munnich A ; Jeanpierre M ; Elpeleg O ; Pines O ; Delahodde A ; de Keyzer Y ; de Lonlay P | 2012Article
Hubert L ; Romero NB ; Viollet L ; Laforet P ; Mathew S ; Bekri S ; Kirk E ; Peters H ; McGill JJ ; Glamuzina E ; von der Hagen M ; Alexander IE ; Kirmse B ; Vaz FM ; Munnich A ; Elpeleg O ; Delahodde A ; de Keyzer Y ; de Lonlay P | AFM-TELETHON | 2011Introduction: Main metabolic causes of myopathies are fatty acid oxidation (FAO) deficiencies. LPIN1 defects have been involved in severe and early rhabdomyolysis. Lipin1 plays a dual role, as a phosphatidate phosphatase 1 (PAP1) and as a transc[...]Article