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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: zenker m. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.
Schmidt VF, Kapp FG, Goldann C, Huthmann L, Cucuruz B, Brill R, Vielsmeier V, Seebauer CT, Michel AJ, Seidensticker M, Uller W, Weiß JBW, Sint A, Häberle B, Haehl J, Wagner A, Cordes J, Holm A, Schanze D, Ricke J, Kimm MA, Wohlgemuth WA, Zenker M, Wildgruber M; APOLLON Investigators. Schmidt VF, et al. Among authors: zenker m. J Am Heart Assoc. 2024 Apr 16;13(8):e033287. doi: 10.1161/JAHA.123.033287. Epub 2024 Apr 2. J Am Heart Assoc. 2024. PMID: 38563363 Free article.
RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations.
Windrich J, Braubach P, Länger F, Dingemann J, Schwerk N, Wetzke M, Renz DM, Zenker M, Schanze D, Kratz CP. Windrich J, et al. Among authors: zenker m. Am J Respir Crit Care Med. 2024 Feb 20. doi: 10.1164/rccm.202311-2163LE. Online ahead of print. Am J Respir Crit Care Med. 2024. PMID: 38377348 No abstract available.
[Cancer in people with an intellectual disability in Germany: prevalence, genetics, and care situation].
Sappok T, Kowalski C, Zenker M, Weißinger F, Berger AW. Sappok T, et al. Among authors: zenker m. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2024 Mar;67(3):362-369. doi: 10.1007/s00103-024-03837-1. Epub 2024 Feb 9. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2024. PMID: 38334785 Free PMC article. Review. German.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. Pierpont EI, et al. Among authors: zenker m. Am J Med Genet A. 2024 Apr;194(4):e63477. doi: 10.1002/ajmg.a.63477. Epub 2023 Nov 15. Am J Med Genet A. 2024. PMID: 37969032
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Ramamoorthy S, Lebrecht D, Schanze D, Schanze I, Wieland I, Andrieux G, Metzger P, Hess M, Albert MH, Borkhardt A, Bresters D, Buechner J, Catala A, De Haas V, Dworzak M, Erlacher M, Hasle H, Jahnukainen K, Locatelli F, Masetti R, Stary J, Turkiewicz D, Vinci L, Wlodarski MW, Yoshimi A, Boerries M, Niemeyer CM, Zenker M, Flotho C. Ramamoorthy S, et al. Among authors: zenker m. Br J Haematol. 2024 Feb;204(2):595-605. doi: 10.1111/bjh.19190. Epub 2023 Nov 9. Br J Haematol. 2024. PMID: 37945316
383 results