1. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Issue 1 (December 2015) Authors: Mercier, Sandra; Küry, Sébastien; Salort-Campana, Emmanuelle; Magot, Armelle; Agbim, Uchenna; Besnard, Thomas; Bodak, Nathalie; Bou-Hanna, Chantal; Bréhéret, Flora; Brunelle, Perrine; Caillon, Florence; Chabrol, Brigitte; Cormier-Daire, Valérie; David, Albert; Eymard, Bruno; Faivre, Laurence; Fig... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue. (August 2020) Authors: Auré, Karine; Fayet, Guillemette; Chicherin, Ivan; Rucheton, Benoit; Filaut, Sandrine; Heckel, Anne-Marie; Eichler, Julie; Caillon, Florence; Péréon, Yann; Entelis, Nina; Tarassov, Ivan; Lombès, Anne Journal: Neurology Issue: Volume 6:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Muscle magnetic resonance imaging abnormalities in X‐linked myopathy with excessive autophagy. Issue 4 (3rd June 2015) Authors: Mercier, Sandra; Magot, Armelle; Caillon, Florence; Isidor, Bertrand; David, Albert; Ferrer, Xavier; Vital, Anne; Coquet, Michelle; Penttilä, Sini; Udd, Bjarne; Mussini, Jean‐Marie; Pereon, Yann Journal: Muscle & nerve Issue: Volume 52:Issue 4(2015:Oct.) Page Start: 673 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗