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Page 1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: bruckner r. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Valproic acid-induced hepatopathy: nine new fatalities in Germany from 1994 to 2003.
Koenig SA, Buesing D, Longin E, Oehring R, Häussermann P, Kluger G, Lindmayer F, Hanusch R, Degen I, Kuhn H, Samii K, Jungck A, Brückner R, Seitz R, Boxtermann W, Weber Y, Knapp R, Richard HH, Weidner B, Kasper JM, Haensch CA, Fitzek S, Hartmann M, Borusiak P, Müller-Deile A, Degenhardt V, Korenke GC, Hoppen T, Specht U, Gerstner T. Koenig SA, et al. Among authors: bruckner r. Epilepsia. 2006 Dec;47(12):2027-31. doi: 10.1111/j.1528-1167.2006.00846.x. Epilepsia. 2006. PMID: 17201699 Free article.
CF DNA-diagnosis and gene mutation analysis: data from East Germany.
Coutelle C, Grade K, Brückner R, Szibor R, Will K, Bauer I, Gorki H, Gedschold J, Brock J, Urner U, et al. Coutelle C, et al. Among authors: bruckner r. Pathol Biol (Paris). 1991 Jun;39(6):585-6. Pathol Biol (Paris). 1991. PMID: 1923588 No abstract available.
Prevalence of cystic fibrosis mutations in the East German population.
Coutelle C, Brückner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I, et al. Coutelle C, et al. Among authors: bruckner r. Hum Mutat. 1992;1(2):109-12. doi: 10.1002/humu.1380010205. Hum Mutat. 1992. PMID: 1301197
Distribution of RFLP haplotypes in CF in relation to clinical course.
Gedschold J, Brückner R, Szibor R, Steinbicker V, Berger W, Grade K, Coutelle C, Bauer I, Bittorf T, Brock J, et al. Gedschold J, et al. Among authors: bruckner r. Acta Univ Carol Med (Praha). 1990;36(1-4):115-6. Acta Univ Carol Med (Praha). 1990. PMID: 1983381 No abstract available.
334 results