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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: laforet p. Hum Mutat. 2006 Sep;27(9):906-13. doi: 10.1002/humu.20351. Hum Mutat. 2006. PMID: 16865695
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: laforet p. 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
Distal inflammatory myopathy: unusual presentation of polymyositis or new entity?
Dimitri D, Dubourg O, Maisonobe T, Fournier E, Ranque B, Laforêt P, Mussini JM, Pagnoux C, Béhin A, Papo T, Benveniste O, Eymard B, Herson S. Dimitri D, et al. Among authors: laforet p. Neuromuscul Disord. 2008 Jun;18(6):493-500. doi: 10.1016/j.nmd.2008.04.015. Epub 2008 Jun 4. Neuromuscul Disord. 2008. PMID: 18534849
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
Claeys KG, van der Ven PF, Behin A, Stojkovic T, Eymard B, Dubourg O, Laforêt P, Faulkner G, Richard P, Vicart P, Romero NB, Stoltenburg G, Udd B, Fardeau M, Voit T, Fürst DO. Claeys KG, et al. Among authors: laforet p. Acta Neuropathol. 2009 Mar;117(3):293-307. doi: 10.1007/s00401-008-0479-7. Epub 2009 Jan 17. Acta Neuropathol. 2009. PMID: 19151983
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C. Laforêt P, et al. Neuromuscul Disord. 2009 May;19(5):324-9. doi: 10.1016/j.nmd.2009.02.007. Epub 2009 Mar 26. Neuromuscul Disord. 2009. PMID: 19327992
339 results