Quijano-Roy S - Search Results

1

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

Bertrand AT, Ziaei S, Ehret C, Duchemin H, Mamchaoui K, Bigot A, Mayer M, Quijano-Roy S, Desguerre I, Lainé J, Ben Yaou R, Bonne G, Coirault C. Bertrand AT, et al. J Cell Sci. 2014 Jul 1;127(Pt 13):2873-84. doi: 10.1242/jcs.144907. Epub 2014 May 7. J Cell Sci. 2014. PMID: 24806962

2

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.

Finkel RS, Sejersen T, Mercuri E; ENMC SMA Workshop Study Group. Finkel RS, et al. Neuromuscul Disord. 2017 Jun;27(6):596-605. doi: 10.1016/j.nmd.2017.02.014. Epub 2017 Mar 2. Neuromuscul Disord. 2017. PMID: 28392274 No abstract available.

3

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Moghadaszadeh B, et al. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713. Nat Genet. 2001. PMID: 11528383

4

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. Quijano-Roy S, et al. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Ann Neurol. 2008. PMID: 18551513

5

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V. Briñas L, et al. Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087. Ann Neurol. 2010. PMID: 20976770

6

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Ben Yaou R, et al. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267004 Free PMC article.

7

ColVI myopathies: where do we stand, where do we go?

Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. Allamand V, et al. Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30. Skelet Muscle. 2011. PMID: 21943391 Free PMC article.

8

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.

Gitiaux C, Bergounioux J, Magen M, Quijano-Roy S, Blanc T, Bonnefont JP, Desguerre I. Gitiaux C, et al. J Child Neurol. 2013 Jun;28(6):787-90. doi: 10.1177/0883073812450209. Epub 2012 Jul 12. J Child Neurol. 2013. PMID: 22791546

9

Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients.

Servais L, Deconinck N, Moraux A, Benali M, Canal A, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Desguerre I, Maincent K, Themar-Noel C, Quijano-Roy S, Serari N, Voit T, Hogrel JY. Servais L, et al. Neuromuscul Disord. 2013 Feb;23(2):139-48. doi: 10.1016/j.nmd.2012.10.022. Epub 2012 Dec 5. Neuromuscul Disord. 2013. PMID: 23219352

10

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.

Bonne G, Quijano-Roy S. Bonne G, et al. Handb Clin Neurol. 2013;113:1367-76. doi: 10.1016/B978-0-444-59565-2.00007-1. Handb Clin Neurol. 2013. PMID: 23622360 Free article. Review.

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