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Page 1
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
de Feraudy Y, Ben Yaou R, Wahbi K, Stalens C, Stantzou A, Laugel V, Desguerre I; FILNEMUS Network; Servais L, Leturcq F, Amthor H. de Feraudy Y, et al. Among authors: amthor h. Ann Neurol. 2021 Feb;89(2):280-292. doi: 10.1002/ana.25951. Epub 2020 Nov 24. Ann Neurol. 2021. PMID: 33159473 Free PMC article.
BMP signaling regulates satellite cell-dependent postnatal muscle growth.
Stantzou A, Schirwis E, Swist S, Alonso-Martin S, Polydorou I, Zarrouki F, Mouisel E, Beley C, Julien A, Le Grand F, Garcia L, Colnot C, Birchmeier C, Braun T, Schuelke M, Relaix F, Amthor H. Stantzou A, et al. Among authors: amthor h. Development. 2017 Aug 1;144(15):2737-2747. doi: 10.1242/dev.144089. Epub 2017 Jul 10. Development. 2017. PMID: 28694257 Free PMC article.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. Zaharieva IT, et al. Among authors: amthor h. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660
Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy.
Petkova MV, Stantzou A, Morin A, Petrova O, Morales-Gonzalez S, Seifert F, Bellec-Dyevre J, Manoliu T, Goyenvalle A, Garcia L, Richard I, Laplace-Builhé C, Schuelke M, Amthor H. Petkova MV, et al. Among authors: amthor h. Neuropathol Appl Neurobiol. 2020 Oct;46(6):602-614. doi: 10.1111/nan.12639. Epub 2020 Jul 27. Neuropathol Appl Neurobiol. 2020. PMID: 32573804 Free article.
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, Isapof A, Tiffreau V, Campana-Salort E, Leturcq F, Tuffery-Giraud S, Ben Yaou R, Annane D, Amédro P, Barnerias C, Bécane HM, Béhin A, Bonnet D, Bassez G, Cossée M, de La Villéon G, Delcourte C, Fayssoil A, Fontaine B, Godart F, Guillaumont S, Jaillette E, Laforêt P, Leonard-Louis S, Lofaso F, Mayer M, Morales RJ, Meune C, Orlikowski D, Ovaert C, Prigent H, Saadi M, Sochala M, Tard C, Vaksmann G, Walther-Louvier U, Eymard B, Stojkovic T, Ravaud P, Duboc D, Wahbi K. Porcher R, et al. Among authors: amthor h. Eur Heart J. 2021 May 21;42(20):1976-1984. doi: 10.1093/eurheartj/ehab054. Eur Heart J. 2021. PMID: 33748842
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY. Quijano-Roy S, et al. Among authors: amthor h. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
Fayssoil A, Nguyen LS, Stojkovic T, Prigent H, Carlier R, Amthor H, Bergounioux J, Zini J, Damez-Fontaine S, Wahbi K, Laforet P, Nicolas G, Behin A, Bassez G, Leturcq F, Ben Yaou R, Mansencal N, Annane D, Lofaso F, Orlikowski D. Fayssoil A, et al. Among authors: amthor h. Muscle Nerve. 2022 Jan;65(1):89-95. doi: 10.1002/mus.27432. Epub 2021 Oct 25. Muscle Nerve. 2022. PMID: 34618930 Free 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. Among authors: amthor h. 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.
65 results