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Page 1
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: reuner u. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: reuner u. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R. Strach K, et al. Among authors: reuner u. Neuromuscul Disord. 2008 Jun;18(6):475-82. doi: 10.1016/j.nmd.2008.03.012. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504128
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J. Rauschka H, et al. Among authors: reuner u. Neurology. 2006 Sep 12;67(5):859-63. doi: 10.1212/01.wnl.0000234129.97727.4d. Neurology. 2006. PMID: 16966551
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
Niemann S, Joos H, Meyer T, Vielhaber S, Reuner U, Gleichmann M, Dengler R, Müller U. Niemann S, et al. Among authors: reuner u. J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1186-8. doi: 10.1136/jnnp.2003.028324. J Neurol Neurosurg Psychiatry. 2004. PMID: 15258228 Free PMC article.
A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q.
Cichon S, Schumacher J, Müller DJ, Hürter M, Windemuth C, Strauch K, Hemmer S, Schulze TG, Schmidt-Wolf G, Albus M, Borrmann-Hassenbach M, Franzek E, Lanczik M, Fritze J, Kreiner R, Reuner U, Weigelt B, Minges J, Lichtermann D, Lerer B, Kanyas K, Baur MP, Wienker TF, Maier W, Rietschel M, Propping P, Nöthen MM. Cichon S, et al. Among authors: reuner u. Hum Mol Genet. 2001 Dec 1;10(25):2933-44. doi: 10.1093/hmg/10.25.2933. Hum Mol Genet. 2001. PMID: 11741836
48 results