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Page 1
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM. Ben Yaou R, et al. Among authors: carlier ry. Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264399 Free PMC article.
Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders.
Fayssoil A, Behin A, Ogna A, Mompoint D, Amthor H, Clair B, Laforet P, Mansart A, Prigent H, Orlikowski D, Stojkovic T, Vinit S, Carlier R, Eymard B, Lofaso F, Annane D. Fayssoil A, et al. J Neuromuscul Dis. 2018;5(1):1-10. doi: 10.3233/JND-170276. J Neuromuscul Dis. 2018. PMID: 29278898 Free PMC article. Review.
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E. Dabaj I, et al. Among authors: carlier ry. Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14. Muscle Nerve. 2018. PMID: 29624713
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. Lornage X, et al. Among authors: carlier ry. Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30. Acta Neuropathol. 2019. PMID: 30701273 Free PMC article.
Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders.
Fayssoil A, Nguyen LS, Ogna A, Stojkovic T, Meng P, Mompoint D, Carlier R, Prigent H, Clair B, Behin A, Laforet P, Bassez G, Crenn P, Orlikowski D, Annane D, Eymard B, Lofaso F. Fayssoil A, et al. PLoS One. 2019 Apr 24;14(4):e0214288. doi: 10.1371/journal.pone.0214288. eCollection 2019. PLoS One. 2019. PMID: 31017911 Free PMC article.
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY. Barp A, et al. Among authors: carlier ry. J Neurol. 2020 Jan;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25. J Neurol. 2020. PMID: 31555977 Free article.
190 results