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Page 1
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: baulac s. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.
Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I. Honke J, et al. Among authors: baulac s. Acta Neuropathol Commun. 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x. Acta Neuropathol Commun. 2023. PMID: 37946310 Free PMC article.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Among authors: baulac m, baulac s. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A. Aledo-Serrano Á, et al. Among authors: baulac s. Neurotherapeutics. 2023 Sep;20(5):1294-1304. doi: 10.1007/s13311-023-01395-z. Epub 2023 Jun 6. Neurotherapeutics. 2023. PMID: 37278968 Free PMC article.
PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis.
Yamaguchi J, Isnard P, Robil N, de la Grange P, Hoguin C, Schmitt A, Hummel A, Megret J, Goudin N, Luka M, Ménager MM, Masson C, Zarhrate M, Bôle-Feysot C, Janiszewska M, Polyak K, Dairou J, Baldassari S, Baulac S, Broissand C, Legendre C, Terzi F, Canaud G. Yamaguchi J, et al. Among authors: baulac s. J Clin Invest. 2024 Jun 6;134(15):e176402. doi: 10.1172/JCI176402. J Clin Invest. 2024. PMID: 38842935 Free PMC article.
WONOEP appraisal: Targeted therapy development for early onset epilepsies.
Casillas-Espinosa PM, Wong JC, Grabon W, Gonzalez-Ramos A, Mantegazza M, Yilmaz NC, Patel M, Staley K, Sankar R, O'Brien TJ, Akman Ö, Balagura G, Numis AL, Noebels JL, Baulac S, Auvin S, Henshall DC, Galanopoulou AS. Casillas-Espinosa PM, et al. Among authors: baulac s. Epilepsia. 2024 Nov 19. doi: 10.1111/epi.18187. Online ahead of print. Epilepsia. 2024. PMID: 39560633
Somatic variant analysis of resected brain tissue in epilepsy surgery patients.
Sanders MWCB, Koeleman BPC, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, Ko A, Kang HC, Blümcke I, Lal D, Baulac S, Lee JH, Aronica E, Braun KPJ. Sanders MWCB, et al. Among authors: baulac s. Epilepsia. 2024 Oct 26. doi: 10.1111/epi.18148. Online ahead of print. Epilepsia. 2024. PMID: 39460693
126 results