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Page 1
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: germain dp. Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14. Muscle Nerve. 2015. PMID: 25808192
The pulvinar sign in Fabry patients: the first report in female patients.
Burlina AP, Politei J, Cinque S, Soliani A, Carlier RY, Germain DP, Manara R. Burlina AP, et al. Among authors: germain dp. J Neurol. 2012 Jun;259(6):1227-8. doi: 10.1007/s00415-011-6305-5. Epub 2011 Nov 18. J Neurol. 2012. PMID: 22095041 No abstract available.
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: germain dp. 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
Basilar Artery Changes in Fabry Disease.
Manara R, Carlier RY, Righetto S, Citton V, Locatelli G, Colas F, Ermani M, Germain DP, Burlina A. Manara R, et al. Among authors: germain dp. AJNR Am J Neuroradiol. 2017 Mar;38(3):531-536. doi: 10.3174/ajnr.A5069. Epub 2017 Jan 26. AJNR Am J Neuroradiol. 2017. PMID: 28126747 Free PMC article.
Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease.
Collin C, Briet M, Tran TC, Beaussier H, Benistan K, Bensalah M, Mousseaux E, Froissart M, Bozec E, Laurent S, Boutouyrie P, Germain DP. Collin C, et al. Among authors: germain dp. Eur J Prev Cardiol. 2012 Feb;19(1):43-54. doi: 10.1177/1741826710391118. Epub 2011 Mar 4. Eur J Prev Cardiol. 2012. PMID: 21450622
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Üçeyler N, Zeltzer LK, Burlina A. Politei JM, et al. Among authors: germain dp. CNS Neurosci Ther. 2016 Jul;22(7):568-76. doi: 10.1111/cns.12542. Epub 2016 Mar 28. CNS Neurosci Ther. 2016. PMID: 27297686 Free PMC article.
European expert consensus statement on therapeutic goals in Fabry disease.
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. Wanner C, et al. Among authors: germain dp. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Mol Genet Metab. 2018. PMID: 30017653 Review.
281 results