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Page 1
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: ferrer x. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.
Stojkovic T, Hammouda el H, Richard P, López de Munain A, Ruiz-Martinez J, Camaño P, Laforêt P, Pénisson-Besnier I, Ferrer X, Lacour A, Lacomblez L, Claeys KG, Maurage CA, Fardeau M, Eymard B. Stojkovic T, et al. Among authors: ferrer x. Neuromuscul Disord. 2009 May;19(5):316-23. doi: 10.1016/j.nmd.2009.02.012. Epub 2009 Apr 11. Neuromuscul Disord. 2009. PMID: 19364651
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: ferrer x. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567
[Proximal myotonial myopathy (PROMM): clinical and histology study].
Bassez G, Attarian S, Laforêt P, Azulay JP, Rouche A, Ferrer X, Urtizberea JA, Pellissier JF, Duboc D, Fardeau M, Pouget J, Eymard B. Bassez G, et al. Among authors: ferrer x. Rev Neurol (Paris). 2001 Feb;157(2):209-18. Rev Neurol (Paris). 2001. PMID: 11283467 French.
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
Ben Yaou R, Bécane HM, Demay L, Laforet P, Hannequin D, Bohu PA, Drouin-Garraud V, Ferrer X, Mussini JM, Ollagnon E, Petiot P, Penisson-Besnier I, Streichenberger N, Toutain A, Richard P, Eymard B, Bonne G. Ben Yaou R, et al. Among authors: ferrer x. Rev Neurol (Paris). 2005 Jan;161(1):42-54. doi: 10.1016/s0035-3787(05)84972-0. Rev Neurol (Paris). 2005. PMID: 15678000 French.
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B. Jonson PH, et al. Among authors: ferrer x. Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30. Eur J Neurol. 2018. PMID: 29437287 Free article.
Severe neonatal myasthenia due to maternal anti-MuSK antibodies.
Béhin A, Mayer M, Kassis-Makhoul B, Jugie M, Espil-Taris C, Ferrer X, Chatenoud L, Laforêt P, Eymard B. Béhin A, et al. Among authors: ferrer x. Neuromuscul Disord. 2008 Jun;18(6):443-6. doi: 10.1016/j.nmd.2008.03.006. Epub 2008 Apr 22. Neuromuscul Disord. 2008. PMID: 18434154
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin.
Allenbach Y, Drouot L, Rigolet A, Charuel JL, Jouen F, Romero NB, Maisonobe T, Dubourg O, Behin A, Laforet P, Stojkovic T, Eymard B, Costedoat-Chalumeau N, Campana-Salort E, Tournadre A, Musset L, Bader-Meunier B, Kone-Paut I, Sibilia J, Servais L, Fain O, Larroche C, Diot E, Terrier B, De Paz R, Dossier A, Menard D, Morati C, Roux M, Ferrer X, Martinet J, Besnard S, Bellance R, Cacoub P, Arnaud L, Grosbois B, Herson S, Boyer O, Benveniste O; French Myositis Network. Allenbach Y, et al. Among authors: ferrer x. Medicine (Baltimore). 2014 May;93(3):150-157. doi: 10.1097/MD.0000000000000028. Medicine (Baltimore). 2014. PMID: 24797170 Free PMC article.
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Krahn M, Lopez de Munain A, Streichenberger N, Bernard R, Pécheux C, Testard H, Pena-Segura JL, Yoldi E, Cabello A, Romero NB, Poza JJ, Bouillot-Eimer S, Ferrer X, Goicoechea M, Garcia-Bragado F, Leturcq F, Urtizberea JA, Lévy N. Krahn M, et al. Among authors: ferrer x. Ann Neurol. 2006 Jun;59(6):905-11. doi: 10.1002/ana.20833. Ann Neurol. 2006. PMID: 16607617
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P. Goudeau B, et al. Among authors: ferrer x. Hum Mutat. 2006 Sep;27(9):906-13. doi: 10.1002/humu.20351. Hum Mutat. 2006. PMID: 16865695
162 results