Search Results - "Metay C"

16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy.

Authors: Metay, C. Ghanem, R. Toutain, A. et al.

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

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Authors: Guérémy, Alexandre Morel, V. Stojkovic, T. et al.

Source: Muscle & Nerve. Jun2026, Vol. 73 Issue 6, p1128-1137. 10p.

COLLAGEN RELATED MUSCLE DISEASES: EP.59 Genetic etiology of retractile myopathies in a cohort of 80 children under 11 years following NGS analysis.

Authors: Metay, C. Jobic, V. Isapof, A. et al.

Source: Neuromuscular Disorders. 2021 Supplement 1, Vol. 31, pS67-S67. 1p.

Is long-term virological response related to CCR5 Δ32 deletion in HIV-1-infected patients started on highly active antiretroviral therapy?

Authors: Laurichesse, J.-J. Taieb, A. Capoulade-Metay, C. et al.

Source: HIV Medicine. Apr2010, Vol. 11 Issue 4, p239-244. 6p. 2 Charts.

142PPhenotypical and genotypical characterization of a cohort of 196 COL6-RD patients in Europe and Chile.

Authors: Bisciglia, M. Stojkovic, T. Metay, C. et al.

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

588P Phenotype variability and natural history of X-linked myopathy with excessive autophagy running head: natural history of XMEA.

Authors: Fernández-Eulate, G. Alfieri, G. Spinazzi, M. et al.

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

487P 2024 update of the national French consensus on gene lists for the diagnosis of muscular diseases using high-throughput sequencing.

Authors: Gorokhova, S. Pion, E. Cossée, M. et al.

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

481P Acute respiratory failure revealing DNAJB4 myopathy: a case report.

Authors: Chitimus, D. Adam, C. Cauquil, C. et al.

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

P.140 - Clinical and histopathological characterization of the first French case of MATR3-related distal myopathy.

Authors: Laforêt, P. Malfatti, E. Metay, C. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS139-S139. 1p.

P342 An early onset benign myopathy with glycogen storage caused by a de novo 1.3 microdeletion of chromosome 14.

Authors: Severa, G. Fiorillo, C. Scala, M. et al.

Source: Neuromuscular Disorders. 2023 Supplement 1, Vol. 33, pS177-S178. 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.

P.330 - A national French consensus on gene lists for NGS-based diagnosis of myopathies.

Authors: Krahn, M. Biancalana, V. Michel-Calemard, L. et al.

Source: Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS196-S196. 1p.

P.66 - Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis.

Authors: Cavassa, E. Tordjman, M. Ferreiro, A. et al.

Source: Neuromuscular Disorders. Oct2016 Supplement 2, Vol. 26, pS109-S109. 1p.

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Authors: Pion E Cossée M Biancalana V et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul 09, pp. 22143602251400143. Date of Electronic Publication: 2026 Jul 09.

Publication Type: Journal Article

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

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

Laminopathies: natural history and risk prediction of heart failure.

Authors: Charron P Proukhnitzky J Ben Yaou R et al.

Source: European heart journal [Eur Heart J] 2026 Jun 23; Vol. 47 (24), pp. 3135-3148.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

Authors: Caramizaru A Onnée M Nikitin S et al.

Source: Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2026 Apr; Vol. 52 (2), pp. e70067.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE

Myotilin gene duplication causing late-onset myotilinopathy.

Authors: Spinazzi M Savarese M Letournel F et al.

Source: European journal of neurology [Eur J Neurol] 2025 Jan; Vol. 32 (1), pp. e70029.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

Authors: Fernández-Eulate G Gitiaux C Thiele S et al.

Source: Brain : a journal of neurology [Brain] 2025 Dec 04; Vol. 148 (12), pp. 4435-4447.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Phenotype variability and natural history of X-linked myopathy with excessive autophagy.

Authors: Fernández-Eulate G Alfieri G Spinazzi M et al.

Source: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 4008-4018. Date of Electronic Publication: 2024 Mar 22.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE