Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

Authors: Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero

Source: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-12 (2024)

Subject Terms: Neuromuscular disorder, NMD, Muscle biopsy, Congenital myopathy, Metabolic myopathy, Electron microscopy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/7f81ad2780f6454c9fe1d497af35e19b

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Authors: Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero

Source: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)

Subject Terms: ACTA1, Congenital myopathy, Nemaline rods, Intranuclear rods, Cytoplasmic bodies, Nuclear envelope, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/aa0b0640d52441babc07367bace6ddce

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

Authors: Eline Lemerle, Jeanne Lainé, Marion Benoist, Gilles Moulay, Anne Bigot, Clémence Labasse, Angéline Madelaine, Alexis Canette, Perrine Aubin, Jean-Michel Vallat, Norma B Romero, Marc Bitoun, Vincent Mouly, Isabelle Marty, Bruno Cadot, Laura Picas, Stéphane Vassilopoulos

Source: eLife, Vol 12 (2023)

Subject Terms: caveolae, T-tubules, caveolin 3, correlative microscopy, caveolinopathies, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/84139; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/30988e26f18d4cc88809cbec0d185677

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

Authors: Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti

Source: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)

Subject Terms: Glycogen storage disease III, Muscle glycogenosis, Metabolic myopathies, Myopathology, Autophagy, Autophagic impairment, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-019-0815-2; https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/93fd2c97c0914ab89cce0bad8ec56750

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

Authors: Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero

Source: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)

Subject Terms: RYR1 recessive, Dusty Core Disease, Central Core Disease, Congenital Myopathy, Centronuclear myopathy, Ryanodine receptor, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0655-5; https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/c73f5437deee409b931e8b9a6c5226cb