A. Madelaine

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

Edoardo Malfatti, Vilma‐Lotta Lehtokari, Johann Böhm et al. · Acta Neuropathologica Communications · 2014 · 92 citations · Full text

Medicine, Genetics, Pathology +17

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Matteo Garibaldi, John Rendu, Julie Brocard et al. · Acta Neuropathologica Communications · 2019 · 55 citations · Full text

Medicine, Genetics, Pathology +15

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

R. Ávila-Polo, Edoardo Malfatti, Xavière Lornage et al. · Journal of Neuropathology & Experimental Neurology · 2018 · 32 citations · Full text

Medicine, Genetics, Pathology +17

Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

Eline Lemerle, Jeanne Lainé, Marion Benoist et al. · eLife · 2023 · 30 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Pascal Laforêt, Michio Inoue, Evelyne Goillot et al. · Acta Neuropathologica Communications · 2019 · 27 citations · Full text

Life Sciences, Pathobiology, Pathology +17