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authFullName_s : Fabiana Lubieniecki
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

J. A. Bevilacqua , Nicole Monnier , Marcus Bitoun , Bruno Eymard , Ana Ferreiro et al.
Neuropathology and Applied Neurobiology, 2011, 37 (3), pp.271-84. ⟨10.1111/j.1365-2990.2010.01149.x⟩
Journal articles inserm-00639292v1
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Edoardo Malfatti , Vilma-Lotta Lehtokari , Johann Böhm , Josine de Winter , Ursula Schäffer et al.
Acta Neuropathologica Communications, 2014, 2 (1), pp.44. ⟨10.1186/2051-5960-2-44⟩
Journal articles inserm-00987739v1

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

Rainiero Ávila-Polo , Edoardo Malfatti , Xavière Lornage , Chrystel Cheraud , Isabelle Nelson et al.
Journal of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩
Journal articles hal-02332968v1
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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Jing Liu , Daniela Ottaviani , Meriem Sefta , Céline Desbrousses , Elodie Chapeaublanc et al.
Nature Communications, 2021, 12 (1), pp.1-20. ⟨10.1038/s41467-021-25792-0⟩
Journal articles hal-03374490v1

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Osorio Abath Neto , Cristiane de Araujo Martins Moreno , Edoardo Malfatti , Sandra Donkervoort , Johann Bohm et al.
Neuromuscular Disorders, 2017, 27 (11), pp.975-985. ⟨10.1016/j.nmd.2017.05.016⟩
Journal articles hal-01741730v1
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Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

Marc Bitoun , Jorge Alfredo Bevilacqua , Bernard Prudhon , Svetlana Maugenre , Ana Lia Taratuto et al.
Annals of Neurology, 2007, 62 (6), pp.666-670. ⟨10.1002/ana.21235⟩
Journal articles istex hal-02448610v1
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‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Matteo Garibaldi , John Rendu , Julie Brocard , Emmanuelle Lacène , Julien Fauré et al.
Acta Neuropathologica Communications, 2019, 7 (3), ⟨10.1186/s40478-018-0655-5⟩
Journal articles hal-01973947v1

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort , Carl E. Kutzner , Ying Hu , Xavière Lornage , John Rendu et al.
American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩
Journal articles hal-03668017v1