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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: laforet p. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Exercise tolerance and daily life in McArdle's disease.
Ollivier K, Hogrel JY, Gomez-Merino D, Romero NB, Laforêt P, Eymard B, Portero P. Ollivier K, et al. Among authors: laforet p. Muscle Nerve. 2005 May;31(5):637-41. doi: 10.1002/mus.20251. Muscle Nerve. 2005. PMID: 15614801
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
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB. Bevilacqua JA, et al. Among authors: laforet p. Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16. Acta Neuropathol. 2009. PMID: 19084976
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
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: laforet p. 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
Permanent muscle weakness in McArdle disease.
Nadaj-Pakleza AA, Vincitorio CM, Laforêt P, Eymard B, Dion E, Teijeira S, Vietez I, Jeanpierre M, Navarro C, Stojkovic T. Nadaj-Pakleza AA, et al. Among authors: laforet p. Muscle Nerve. 2009 Sep;40(3):350-7. doi: 10.1002/mus.21351. Muscle Nerve. 2009. PMID: 19670320
Rigid spine syndrome revealing late-onset Pompe disease.
Laforêt P, Doppler V, Caillaud C, Laloui K, Claeys KG, Richard P, Ferreiro A, Eymard B. Laforêt P, et al. Neuromuscul Disord. 2010 Feb;20(2):128-30. doi: 10.1016/j.nmd.2009.11.006. Epub 2009 Dec 14. Neuromuscul Disord. 2010. PMID: 20005713
339 results