Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Diaphragmatic dysfunction in SEPN1-related myopathy.
Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B. Caggiano S, et al. Among authors: estournet b. Neuromuscul Disord. 2017 Aug;27(8):747-755. doi: 10.1016/j.nmd.2017.04.010. Epub 2017 Apr 26. Neuromuscul Disord. 2017. PMID: 28606403
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S. Hankiewicz K, et al. Among authors: estournet b. Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14. Muscle Nerve. 2015. PMID: 25808192
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: estournet b. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
Diaphragmatic dysfunction in Collagen VI myopathies.
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B. Quijano-Roy S, et al. Among authors: estournet b. Neuromuscul Disord. 2014 Feb;24(2):125-33. doi: 10.1016/j.nmd.2013.11.002. Epub 2013 Nov 16. Neuromuscul Disord. 2014. PMID: 24314752
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB. Bolocan A, et al. Among authors: estournet b. Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25070542
Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.
Khirani S, Dabaj I, Amaddeo A, Olmo Arroyo J, Ropers J, Tirolien S, Coudert V, Estournet B, Fauroux B, Quijano-Roy S. Khirani S, et al. Among authors: estournet b. Pediatr Neurol. 2017 Aug;73:78-87.e1. doi: 10.1016/j.pediatrneurol.2017.04.013. Epub 2017 Apr 20. Pediatr Neurol. 2017. PMID: 28668232
78 results