Carlier RY - Search Results

1

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T. Echaniz-Laguna A, et al. Among authors: carlier ry, carlier p. Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30. Neurology. 2014. PMID: 24789864

2

Core-rod myopathy caused by mutations in the nebulin gene.

Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C. Romero NB, et al. Among authors: carlier ry. Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45. Neurology. 2009. PMID: 19805734 No abstract available.

3

Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation.

Claeys KG, Maisonobe T, Böhm J, Laporte J, Hezode M, Romero NB, Brochier G, Bitoun M, Carlier RY, Stojkovic T. Claeys KG, et al. Among authors: carlier ry. Neurology. 2010 Feb 9;74(6):519-21. doi: 10.1212/WNL.0b013e3181cef7f9. Neurology. 2010. PMID: 20142620 No abstract available.

4

Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.

Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N, Annane D, Carlier PG, Orlikowski D. Carlier RY, et al. Among authors: carlier pg. Neuromuscul Disord. 2011 Nov;21(11):791-9. doi: 10.1016/j.nmd.2011.06.748. Epub 2011 Jul 30. Neuromuscul Disord. 2011. PMID: 21803581

5

Muscle MRI findings in limb girdle muscular dystrophy type 2L.

Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V. Sarkozy A, et al. Among authors: carlier ry, carlier pg. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012. Neuromuscul Disord. 2012. PMID: 22980763

6

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY. Jarraya M, et al. Among authors: carlier pg, carlier ry. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S137-47. doi: 10.1016/j.nmd.2012.06.347. Neuromuscul Disord. 2012. PMID: 22980765

7

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study.

Laforêt P, Stojkovic T, Bassez G, Carlier PG, Clément K, Wahbi K, Petit FM, Eymard B, Carlier RY. Laforêt P, et al. Among authors: carlier pg, carlier ry. Mol Genet Metab. 2013 Feb;108(2):125-31. doi: 10.1016/j.ymgme.2012.12.004. Epub 2012 Dec 28. Mol Genet Metab. 2013. PMID: 23333026

8

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

Deconinck N, Richard P, Allamand V, Behin A, Lafôret P, Ferreiro A, de Becdelievre A, Ledeuil C, Gartioux C, Nelson I, Carlier RY, Carlier P, Wahbi K, Romero N, Zabot MT, Bouhour F, Tiffreau V, Lacour A, Eymard B, Stojkovic T. Deconinck N, et al. Among authors: carlier ry, carlier p. J Neurol Neurosurg Psychiatry. 2015 Dec;86(12):1337-46. doi: 10.1136/jnnp-2013-307245. Epub 2014 Dec 22. J Neurol Neurosurg Psychiatry. 2015. PMID: 25535305

9

Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients.

Carlier PG, Azzabou N, de Sousa PL, Hicks A, Boisserie JM, Amadon A, Carlier RY, Wary C, Orlikowski D, Laforêt P. Carlier PG, et al. Among authors: carlier ry. J Inherit Metab Dis. 2015 May;38(3):565-72. doi: 10.1007/s10545-015-9825-9. Epub 2015 Mar 7. J Inherit Metab Dis. 2015. PMID: 25749708 Free PMC article.

10

Should patients with asymptomatic pompe disease be treated? A nationwide study in France.

Echaniz-Laguna A, Carlier RY, Laloui K, Carlier P, Salort-Campana E, Pouget J, Laforet P. Echaniz-Laguna A, et al. Among authors: carlier ry, carlier p. Muscle Nerve. 2015 Jun;51(6):884-9. doi: 10.1002/mus.24653. Epub 2015 Apr 2. Muscle Nerve. 2015. PMID: 25786784

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