Publications by authors named "Clemence Labasse"

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Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.
Beatrice Labella, Guy Brochier, Maud Beuvin, Emmanuelle Lacene, Anais Chanut, Clemence Labasse

J Neuromuscul Dis· November 2025

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Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA).
Angèle N Merlet, Emmanuelle Lacène, Isabelle Nelson, Guy Brochier, Clémence Labasse

J Neuropathol Exp Neurol· November 2025

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A novel gene variant manifesting as rhabdomyolysis and exercise intolerance.
Katia Staedler, Juliette Nectoux, Corinne Metay, Alban Lermine, Rocio-Nur Villar-Quiles, Clemence Labasse

J Neuromuscul Dis· September 2025

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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.
Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse

Acta Neuropathol Commun· December 2024

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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea M Seferian, Clémence Labasse

Neuropathol Appl Neurobiol· December 2023

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Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Eline Lemerle, Jeanne Lainé, Marion Benoist, Gilles Moulay, Anne Bigot, Clémence Labasse

Elife· April 2023

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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu

Acta Neuropathol Commun· July 2022

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Congenital Nemaline Myopathy with Dense Protein Masses.
Jorge A Bevilacqua, Edoardo Malfatti, Clémence Labasse, Guy Brochier, Angeline Madelaine

J Neuropathol Exp Neurol· March 2022

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NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Karlijn Bouman, Benno Küsters, Josine M De Winter, Cynthia Gillet, Esmee S B Van Kleef, Clémence Labasse

J Neuropathol Exp Neurol· March 2021

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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, Claire Lefeuvre, Umut Cagin, Clemence Labasse

Acta Neuropathol Commun· October 2019

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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Xavière Lornage, Norma B Romero, Claire A Grosgogeat, Edoardo Malfatti, Sandra Donkervoort, Clémence Labasse

Acta Neuropathol· March 2019

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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Miguel M Pinto, Soledad Monges, Edoardo Malfatti, Fabiana Lubieniecki, Xavière Lornage, Clémence Labasse

Muscle Nerve· January 2019

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Clemence Labasse

Acta Neuropathol Commun· January 2019

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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, Clémence Labasse

J Neuropathol Exp Neurol· December 2018

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Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse

Acta Neuropathol Commun· September 2018

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Vanessa Schartner, Norma B Romero, Sandra Donkervoort, Susan Treves, Pinki Munot, Clémence Labasse

Acta Neuropathol· April 2017

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QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse

Elife· September 2016

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