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Page 1
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV, Bauché S, Pérez-Guàrdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, Böhm J. Brande LV, et al. Among authors: labasse c. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38124360
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Lemerle E, Lainé J, Benoist M, Moulay G, Bigot A, Labasse C, Madelaine A, Canette A, Aubin P, Vallat JM, Romero NB, Bitoun M, Mouly V, Marty I, Cadot B, Picas L, Vassilopoulos S. Lemerle E, et al. Among authors: labasse c. Elife. 2023 Apr 21;12:e84139. doi: 10.7554/eLife.84139. Elife. 2023. PMID: 37083699 Free PMC article.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB. Labasse C, et al. Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0. Acta Neuropathol Commun. 2022. PMID: 35810298 Free PMC article.
Congenital Nemaline Myopathy with Dense Protein Masses.
Bevilacqua JA, Malfatti E, Labasse C, Brochier G, Madelaine A, Lacène E, Doray B, Laforêt P, Eymard B, Rendu J, Romero NB. Bevilacqua JA, et al. Among authors: labasse c. J Neuropathol Exp Neurol. 2022 Mar 29;81(4):304-307. doi: 10.1093/jnen/nlab139. J Neuropathol Exp Neurol. 2022. PMID: 35139532 No abstract available.
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K, Küsters B, De Winter JM, Gillet C, Van Kleef ESB, Eshuis L, Brochier G, Madelaine A, Labasse C, Boulogne C, Van Engelen BGM, Ottenheijm CAC, Romero NB, Voermans NC, Malfatti E. Bouman K, et al. Among authors: labasse c. J Neuropathol Exp Neurol. 2021 Mar 22;80(4):366-376. doi: 10.1093/jnen/nlab012. J Neuropathol Exp Neurol. 2021. PMID: 33693846
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Laforêt P, Inoue M, Goillot E, Lefeuvre C, Cagin U, Streichenberger N, Leonard-Louis S, Brochier G, Madelaine A, Labasse C, Hedberg-Oldfors C, Krag T, Jauze L, Fabregue J, Labrune P, Milisenda J, Nadaj-Pakleza A, Sacconi S, Mingozzi F, Ronzitti G, Petit F, Schoser B, Oldfors A, Vissing J, Romero NB, Nishino I, Malfatti E. Laforêt P, et al. Among authors: labasse c. Acta Neuropathol Commun. 2019 Oct 28;7(1):167. doi: 10.1186/s40478-019-0815-2. Acta Neuropathol Commun. 2019. PMID: 31661040 Free PMC article.
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. Lornage X, et al. Among authors: labasse c. Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30. Acta Neuropathol. 2019. PMID: 30701273 Free PMC article.
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: labasse c. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.
Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB. Ávila-Polo R, et al. Among authors: labasse c. J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095. J Neuropathol Exp Neurol. 2018. PMID: 30365001 Free article.
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Garibaldi M, Fattori F, Bortolotti CA, Brochier G, Labasse C, Verardo M, Servian-Morilla E, Gibellini L, Pinti M, Di Rocco G, Raffa S, Pennisi EM, Bertini ES, Paradas C, Romero NB, Antonini G. Garibaldi M, et al. Among authors: labasse c. Acta Neuropathol Commun. 2018 Sep 13;6(1):94. doi: 10.1186/s40478-018-0595-0. Acta Neuropathol Commun. 2018. PMID: 30208948 Free PMC article. No abstract available.
16 results