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262 results

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Page 1
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: biskup s. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 Free PMC article.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: biskup s. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Park JH, Nordström U, Tsiakas K, Keskin I, Elpers C, Mannil M, Heller R, Nolan M, Alburaiky S, Zetterström P, Hempel M, Schara-Schmidt U, Biskup S, Steinacker P, Otto M, Weishaupt J, Hahn A, Santer R, Marquardt T, Marklund SL, Andersen PM. Park JH, et al. Among authors: biskup s. Brain Commun. 2023 Jan 27;5(1):fcad017. doi: 10.1093/braincomms/fcad017. eCollection 2023. Brain Commun. 2023. PMID: 36793789 Free PMC article.
Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative.
Henkel J, Laner A, Locher M, Wohlfrom T, Neitzel B, Becker K, Neuhann T, Abicht A, Steinke-Lange V, Klink B, Eichhorn B, Schmidt W, Berner D, Teubert A, Holtorf A, Heinrich S, Wildhardt G, Schulze M, von der Heyden L, Hörtnagel K, Steinberger D, Kleier S, Lorenz P, Glaubitz R, Biskup S, Holinski-Feder E. Henkel J, et al. Among authors: biskup s. Breast. 2025 Jan 20;80:103887. doi: 10.1016/j.breast.2025.103887. Online ahead of print. Breast. 2025. PMID: 39854808 Free article.
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Jolitz L, et al. Among authors: biskup s. Ann Neurol. 2025 Jan 3. doi: 10.1002/ana.27141. Online ahead of print. Ann Neurol. 2025. PMID: 39749750
Case report: Pulmonary Ewing sarcoma disguised as non-small cell lung cancer.
Carter ME, Benegiamo-Chilla A, Kloker LD, Paulsen N, Potkrajcic V, Paulsen F, Nemeth A, Steger V, Schulze M, Biskup S, Benzler K, Singer S, Lauer UM, Zender L, Deinzer CKW. Carter ME, et al. Among authors: biskup s. Front Oncol. 2024 Nov 7;14:1449119. doi: 10.3389/fonc.2024.1449119. eCollection 2024. Front Oncol. 2024. PMID: 39575427 Free PMC article.
Novel variants in the SOX11 gene: clinical description of seven new patients.
Schincariol-Manhe B, Campagnolo É, Spineli-Silva S, de Leeuw N, Correia-Costa GR, Pessoa A, de Souza CFM, Stevens C, Javaher P, Scallet HF, Mohr J, Biskup S, Herkert JC, Pfundt R, Mehta L, Rekab A, Elloumi HZ, Sanyoura M, Maciel-Guerra AT, Gil-da-Silva-Lopes VL, Dos Santos AM, Vieira TP. Schincariol-Manhe B, et al. Among authors: biskup s. Eur J Hum Genet. 2024 Dec;32(12):1640-1646. doi: 10.1038/s41431-024-01695-8. Epub 2024 Sep 27. Eur J Hum Genet. 2024. PMID: 39333428
A real-world observation of patients with glioblastoma treated with a personalized peptide vaccine.
Latzer P, Zelba H, Battke F, Reinhardt A, Shao B, Bartsch O, Rabsteyn A, Harter J, Schulze M, Okech T, Golf A, Kyzirakos-Feger C, Kayser S, Pieper N, Feldhahn M, Wünsche J, Seitz C, Hadaschik D, Garbe C, Hauser TK, la Fougère C, Biskup D, Brooke D, Parker D, Martens UM, Illerhaus G, Blumenthal DT, Merrell R, Lorenzo LS, Hidvégi M, de Robles P, Kebir S, Li WW, Li VW, Williams M, Miller AM, Kesari S, Castro M, Desjardins A, Ashley DM, Friedman HS, Wen PY, Neil EC, Iwamoto FM, Sipos B, Geletneky K, Zender L, Glas M, Reardon DA, Biskup S. Latzer P, et al. Among authors: biskup s. Nat Commun. 2024 Aug 11;15(1):6870. doi: 10.1038/s41467-024-51315-8. Nat Commun. 2024. PMID: 39127809 Free PMC article.
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Schmitz AS, Raju J, Köhler W, Klebe S, Cheheb K, Reschke F, Biskup S, Haack TB, Roeben B, Kellner M, Rahner N, Bloch T, Lemke J, Bender B, Schöls L, Hengel H, Hayer SN. Schmitz AS, et al. Among authors: biskup s. J Neurol. 2024 Sep;271(9):6025-6037. doi: 10.1007/s00415-024-12557-0. Epub 2024 Jul 20. J Neurol. 2024. PMID: 39031193 Free PMC article.
262 results