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Page 1
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J. Rauschenberger K, et al. Among authors: numann a. EMBO Mol Med. 2010 Feb;2(2):51-62. doi: 10.1002/emmm.200900055. EMBO Mol Med. 2010. PMID: 20077426 Free PMC article.
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
Jensen LR, Bartenschlager H, Rujirabanjerd S, Tzschach A, Nümann A, Janecke AR, Spörle R, Stricker S, Raynaud M, Nelson J, Hackett A, Fryns JP, Chelly J, de Brouwer AP, Hamel B, Gecz J, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: numann a. Pathogenetics. 2010 Feb 2;3(1):2. doi: 10.1186/1755-8417-3-2. Pathogenetics. 2010. PMID: 20181063 Free PMC article.
Werner protein protects nonproliferating cells from oxidative DNA damage.
Szekely AM, Bleichert F, Nümann A, Van Komen S, Manasanch E, Ben Nasr A, Canaan A, Weissman SM. Szekely AM, et al. Among authors: numann a. Mol Cell Biol. 2005 Dec;25(23):10492-506. doi: 10.1128/MCB.25.23.10492-10506.2005. Mol Cell Biol. 2005. PMID: 16287861 Free PMC article.
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: numann a. Genet Med. 2025 Apr;27(4):101347. doi: 10.1016/j.gim.2024.101347. Epub 2024 Dec 17. Genet Med. 2025. PMID: 39707840 Free article.
Gait Variability as a Potential Motor Marker of Cerebellar Disease-Relationship between Variability of Stride, Arm Swing and Trunk Movements, and Walking Speed.
Kroneberg D, Nümann A, Minnerop M, Rönnefarth M, Endres M, Kühn AA, Paul F, Doss S, Solbrig S, Elshehabi M, Maetzler W, Schmitz-Hübsch T. Kroneberg D, et al. Among authors: numann a. Sensors (Basel). 2024 May 28;24(11):3476. doi: 10.3390/s24113476. Sensors (Basel). 2024. PMID: 38894268 Free PMC article.
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