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Page 1
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Panagiotakaki E, Doummar D, Nogue E, Nagot N, Lesca G, Riant F, Nicole S, Delaygue C, Barthez MA, Nassogne MC, Dusser A, Vallée L, Billette T, Bourgeois M, Ioos C, Gitiaux C, Laroche C, Milh M, Portes VD, Arzimanoglou A, Roubertie A; AHC–Movement Disorder Study Group. Panagiotakaki E, et al. Among authors: barthez ma. Neurology. 2020 Mar 31;94(13):e1378-e1385. doi: 10.1212/WNL.0000000000009175. Epub 2020 Mar 2. Neurology. 2020. PMID: 32123049
Novel human reovirus isolated from children with acute necrotizing encephalopathy.
Ouattara LA, Barin F, Barthez MA, Bonnaud B, Roingeard P, Goudeau A, Castelnau P, Vernet G, Paranhos-Baccalà G, Komurian-Pradel F. Ouattara LA, et al. Among authors: barthez ma. Emerg Infect Dis. 2011 Aug;17(8):1436-44. doi: 10.3201/eid1708.101528. Emerg Infect Dis. 2011. PMID: 21801621 Free PMC article.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. Viollet LM, et al. Among authors: barthez ma. Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. Eur J Med Genet. 2020. PMID: 32947049
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L. Milh M, et al. Among authors: barthez ma. Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770924 Free article.
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N. Saillour Y, et al. Among authors: barthez ma. Arch Neurol. 2009 Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. Arch Neurol. 2009. PMID: 19667223
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L. Milh M, et al. Among authors: barthez ma. Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80. Orphanet J Rare Dis. 2013. PMID: 23692823 Free PMC article.