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Page 1
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem MC, Nouioua S, Tazir M, Vigouroux C, Auclair M, Bogaert E, Dufour S, Okawa F, Hilbert P, Van Doninck N, Taquet MC, Rosseel T, De Clercq G, Debackere E, Van Haverbeke C, Cherif FR, Urtizberea JA, Chanson JB, Funalot B, Authier FJ, Kaya S, Terryn W, Callens S, Depypere B, Van Dorpe J; Program for Undiagnosed Diseases (UD-PrOZA); Poppe B, Impens F, Mizushima N, Depienne C, Jéru I, Dermaut B. Schuermans N, et al. Among authors: chanson jb. Nat Genet. 2023 Nov;55(11):1929-1940. doi: 10.1038/s41588-023-01535-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919452
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Piarroux J, Dimopoulou E, Taieb G, Souvannanorath S, Roze E, Lion-François L, Spitz MA, Broussolle E, Laurencin C, Chanson JB, Belleville-Goffeney J, François-Heude MC, Meyer P, Khalil M, Dereure M, Doummar D, Chevassus H, Apartis E, Roubertie A. Piarroux J, et al. Among authors: chanson jb. Tremor Other Hyperkinet Mov (N Y). 2023 Dec 20;13:46. doi: 10.5334/tohm.803. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 38145278 Free PMC article.
A novel variation in the Twinkle linker region causing late-onset dementia.
Echaniz-Laguna A, Chanson JB, Wilhelm JM, Sellal F, Mayençon M, Mohr M, Tranchant C, Mousson de Camaret B. Echaniz-Laguna A, et al. Among authors: chanson jb. Neurogenetics. 2010 Feb;11(1):21-5. doi: 10.1007/s10048-009-0202-4. Epub 2009 Jun 10. Neurogenetics. 2010. PMID: 19513767
Evaluation of new immunological targets in neuromyelitis optica.
Chanson JB, Paolini I, Collongues N, Alcaro MC, Blanc F, Barbetti F, Fleury M, Peroni E, Rovero P, Rudolf G, Lolli F, Trifilieff É, Papini AM, de Seze J. Chanson JB, et al. J Pept Sci. 2013 Jan;19(1):25-32. doi: 10.1002/psc.2470. Epub 2012 Nov 28. J Pept Sci. 2013. PMID: 23193094
Reduction of the washout time between natalizumab and fingolimod.
de Seze J, Ongagna JC, Collongues N, Zaenker C, Courtois S, Fleury M, Benoilid A, Chanson JB, Blanc F; Alsacep Network. de Seze J, et al. Among authors: chanson jb. Mult Scler. 2013 Aug;19(9):1248. doi: 10.1177/1352458513490551. Epub 2013 May 30. Mult Scler. 2013. PMID: 23722322 No abstract available.
77 results