Search Results - "Labasse C"

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.33 Severe forms of ACTA1-related nemaline myopathy: Reassessment of the morphological, clinical and molecular aspects.

Authors: Labasse, C. Brochier, G. Rendu, J. et al.

Source: Neuromuscular Disorders. 2021 Supplement 1, Vol. 31, pS59-S59. 1p.

558PDifferential diagnosis in dysphagia: a histopathological study of the cricopharyngeal muscle.

Authors: Labella, B. Lacene, E. Chanut, A. et al.

Source: Neuromuscular Disorders. 2025 Supplement, Vol. 53, pN.PAG-N.PAG. 1p.

36PUnderstanding muscle biopsy pain: what to expect during and after.

Authors: Labella, B. Brochier, G. Beuvin, M. et al.

Source: Neuromuscular Disorders. 2025 Supplement, Vol. 53, pN.PAG-N.PAG. 1p.

529P Paucisymptomatic late onset Pompe disease: lessons from the clinical, radiological and histopathological long-term follow-up of an untreated patient.

Authors: Fernández-Eulate, G. Caillaud, C. Lacene, E. et al.

Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.

255P Relevance of muscle biopsies in the neonatal period: a 52-year retrospective study in the gene-sequencing era.

Authors: Bui, M. Fernández-Eulate, G. Evangelista, T. et al.

Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.

P.286 - Further insights in nemaline myopathy (NM) with hyaline masses.

Authors: Bevilacqua, J. Malfatti, E. Labasse, C. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS183-S184. 1p.

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.

Authors: Garibaldi, M. Fattori, F. Riva, B. et al.

Source: Clinical Genetics. May2017, Vol. 91 Issue 5, p780-786. 8p. 1 Color Photograph, 1 Black and White Photograph, 1 Graph.

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES: EP.40 Neuromuscular junction defects in ACTA1-related nemaline myopathy.

Authors: Bogni, C. Girard, E. Poulard, K. et al.

Source: Neuromuscular Disorders. 2021 Supplement 1, Vol. 31, pS61-S62. 2p.

OTHER NMDs: EP.348 Can immunohistochemistry help narrow the differential diagnosis of myopathies with rimmed vacuoles?

Authors: Lacene, E. Chanut, A. Stojkovic, T. et al.

Source: Neuromuscular Disorders. 2021 Supplement 1, Vol. 31, pS156-S156. 1p.

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.241Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies.

Authors: Malfatti, E. Avila-Polo, R. Lornage, X. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS104-S105. 1p.

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.232Core and rod myopathy due to a novel mutation in BTB domain of KBTBD13 gene presenting as LGMD.

Authors: Garibaldi, M. Fattori, F. Bortolotti, C. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS102-S102. 1p.

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA: P.70New homozygous mutation in DPAGT1 gene leading to LG-CMS with tubular aggregates.

Authors: Gidaro, T. Vandenbrande, L. Malfatti, E. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS51-S51. 1p.

CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.49Redefining the morphological spectrum of RYR1 recessive myopathies.

Authors: Garibaldi, M. Rendu, J. Brocard, J. et al.

Source: Neuromuscular Disorders. Oct2018:Supplement 2, Vol. 28, pS45-S45. 1p.

P.479 - Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.

Authors: Garibaldi, M. Rendu, J. Lacene, E. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS239-S239. 1p.

P.364 - Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectives.

Authors: Malfatti, E. Goillot, E. Streichenberger, N. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS205-S206. 1p.

P.358 - Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1.

Authors: Garibaldi, M. Fattori, F. Riva, B. et al.

Source: Neuromuscular Disorders. Oct2016 Supplement 2, Vol. 26, pS193-S193. 1p.

G.P.339 - Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies.

Authors: Avila-Polo, R. Malfatti, E. Nelson, I. et al.

Source: Neuromuscular Disorders. Oct2015 Supplement 2, Vol. 25, pS287-S288. 1p.

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

Authors: Staedler K Nectoux J Metay C et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 774-780. Date of Electronic Publication: 2025 Sep 15.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Authors: Labella B Brochier G Beuvin M et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 May; Vol. 13 (3), pp. 388-404. Date of Electronic Publication: 2025 Nov 18.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Psychosocial Determinants of Pain in Muscle Biopsy.

Authors: Labella B Lacene E Beuvin M et al.

Source: Muscle & nerve [Muscle Nerve] 2026 Aug; Vol. 74 (2), pp. 383-389. Date of Electronic Publication: 2026 May 29.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE