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Page 1
Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies.
Halawi AA, Burgmaier K, Buescher AK, Dursun I, Erger F, Galiano M, Gessner M, Gökce I, Mekahli D, Mir S, Obrycki L, Shroff R, Stabouli S, Szczepanska M, Teixeira A, Weber LT, Wenzel A, Wühl E, Zachwieja K, Dötsch J, Schaefer F, Liebau MC. Halawi AA, et al. Among authors: erger f. Kidney Int Rep. 2023 Apr 13;8(7):1449-1454. doi: 10.1016/j.ekir.2023.04.006. eCollection 2023 Jul. Kidney Int Rep. 2023. PMID: 37441483 Free PMC article. No abstract available.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. Murakami Y, et al. Among authors: erger f. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256876 Free PMC article.
Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.
Theobald SJ, Simonis A, Georgomanolis T, Kreer C, Zehner M, Eisfeld HS, Albert MC, Chhen J, Motameny S, Erger F, Fischer J, Malin JJ, Gräb J, Winter S, Pouikli A, David F, Böll B, Koehler P, Vanshylla K, Gruell H, Suárez I, Hallek M, Fätkenheuer G, Jung N, Cornely OA, Lehmann C, Tessarz P, Altmüller J, Nürnberg P, Kashkar H, Klein F, Koch M, Rybniker J. Theobald SJ, et al. Among authors: erger f. EMBO Mol Med. 2021 Aug 9;13(8):e14150. doi: 10.15252/emmm.202114150. Epub 2021 Jun 16. EMBO Mol Med. 2021. PMID: 34133077 Free PMC article.
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: erger f. J Pediatr. 2018 Aug;199:22-28.e6. doi: 10.1016/j.jpeds.2018.03.052. Epub 2018 May 9. J Pediatr. 2018. PMID: 29753540
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD).
Burgmaier K, Ariceta G, Bald M, Buescher AK, Burgmaier M, Erger F, Gessner M, Gokce I, König J, Kowalewska C, Massella L, Mastrangelo A, Mekahli D, Pape L, Patzer L, Potemkina A, Schalk G, Schild R, Shroff R, Szczepanska M, Taranta-Janusz K, Tkaczyk M, Weber LT, Wühl E, Wurm D, Wygoda S, Zagozdzon I, Dötsch J, Oh J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: erger f. Sci Rep. 2020 Sep 29;10(1):16025. doi: 10.1038/s41598-020-71956-1. Sci Rep. 2020. PMID: 32994492 Free PMC article.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: erger f. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.
Fabretti F, Tschernoster N, Erger F, Hedergott A, Buescher AK, Dafinger C, Reusch B, Köntges VK, Kohl S, Bartram MP, Weber LT, Thiele H, Altmueller J, Schermer B, Beck BB, Habbig S. Fabretti F, et al. Among authors: erger f. Kidney Int Rep. 2021 Jan 29;6(5):1368-1378. doi: 10.1016/j.ekir.2021.01.023. eCollection 2021 May. Kidney Int Rep. 2021. PMID: 34013115 Free PMC article.
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH, Wenzel A, Erger F, Middelmann L, Borde J, Hahnen E, Krauß D, Oehm S, Arjune S, Todorova P, Burgmaier K, Liebau MC, Grundmann F, Beck BB, Müller RU. Lindemann CH, et al. Among authors: erger f. Kidney Int Rep. 2022 Dec 28;8(3):455-466. doi: 10.1016/j.ekir.2022.12.025. eCollection 2023 Mar. Kidney Int Rep. 2022. PMID: 36938073 Free PMC article.
29 results