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Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A. Auré K, et al. Among authors: dubourg o. Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23. Neurology. 2013. PMID: 24153443
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A. Le Ber I, et al. Among authors: dubourg o. Neurology. 2007 Jan 23;68(4):295-7. doi: 10.1212/01.wnl.0000252366.10731.43. Neurology. 2007. PMID: 17242337
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease.
Laforêt P, Charron P, Maisonobe T, Romero NB, Villard E, Sebillon P, Drouin-Garraud V, Dubourg O, Fardeau M, Komajda M, Eymard B. Laforêt P, et al. Among authors: dubourg o. Neurology. 2004 Oct 26;63(8):1535. doi: 10.1212/01.wnl.0000141858.80738.aa. Neurology. 2004. PMID: 15505188 No abstract available.
Abnormalities of satellite cells function in amyotrophic lateral sclerosis.
Pradat PF, Barani A, Wanschitz J, Dubourg O, Lombès A, Bigot A, Mouly V, Bruneteau G, Salachas F, Lenglet T, Meininger V, Butler-Browne G. Pradat PF, et al. Among authors: dubourg o. Amyotroph Lateral Scler. 2011 Jul;12(4):264-71. doi: 10.3109/17482968.2011.566618. Epub 2011 Apr 8. Amyotroph Lateral Scler. 2011. PMID: 21473708
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: dubourg o. 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
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Among authors: dubourg o. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995
381 results