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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1973 1
1975 1
1976 1
1977 1
1999 1
2001 1
2003 2
2004 2
2005 1
2006 2
2007 3
2008 3
2009 2
2010 1
2012 2
2013 4
2014 5
2015 7
2016 5
2017 3
2018 1
2020 7
2021 7
2022 12
2023 5
2024 3

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76 results

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Page 1
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
Jia F, Fellner A, Kumar KR. Jia F, et al. Genes (Basel). 2022 Mar 7;13(3):471. doi: 10.3390/genes13030471. Genes (Basel). 2022. PMID: 35328025 Free PMC article. Review.
Moreover, atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2, DCTN1, DNAJC6, FBXO7, PLA2G6, and SYNJ1. Furthermore, numerous genes have recently been implicated in Parkinson's disease, such as CHCHD2, LRP10, TMEM230, UQCRC1, and VPS13C …
Moreover, atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2, DCTN1, DNAJC6, FBXO7, PLA2G6, and SYNJ1. …
Rational discovery of molecular glue degraders via scalable chemical profiling.
Mayor-Ruiz C, Bauer S, Brand M, Kozicka Z, Siklos M, Imrichova H, Kaltheuner IH, Hahn E, Seiler K, Koren A, Petzold G, Fellner M, Bock C, Müller AC, Zuber J, Geyer M, Thomä NH, Kubicek S, Winter GE. Mayor-Ruiz C, et al. Nat Chem Biol. 2020 Nov;16(11):1199-1207. doi: 10.1038/s41589-020-0594-x. Epub 2020 Aug 3. Nat Chem Biol. 2020. PMID: 32747809 Free PMC article.
EVI1 drives leukemogenesis through aberrant ERG activation.
Schmoellerl J, Barbosa IAM, Minnich M, Andersch F, Smeenk L, Havermans M, Eder T, Neumann T, Jude J, Fellner M, Ebert A, Steininger M, Delwel R, Grebien F, Zuber J. Schmoellerl J, et al. Blood. 2023 Feb 2;141(5):453-466. doi: 10.1182/blood.2022016592. Blood. 2023. PMID: 36095844 Free article.
Established treatment regimens commonly fail in these patients, therefore, there is an urgent need for new therapeutic concepts that will require a better understanding of the molecular and cellular functions of the ecotropic viral integration site 1 (EVI1) oncogene. To character …
Established treatment regimens commonly fail in these patients, therefore, there is an urgent need for new therapeutic concepts that will re …
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ferguson JM, Pineda SS, Scriba CK, Tchan M, Fung V, Ng K, Cortese A, Houlden H, Dobson-Stone C, Fitzpatrick L, Halliday G, Ravenscroft G, Davis MR, Laing NG, Fellner A, Kennerson M, Kumar KR, Deveson IW. Stevanovski I, et al. Sci Adv. 2022 Mar 4;8(9):eabm5386. doi: 10.1126/sciadv.abm5386. Epub 2022 Mar 4. Sci Adv. 2022. PMID: 35245110 Free PMC article.
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing with Oxford Nanopore's ReadUntil function for parallel gen …
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes impl …
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
Human histone H4 is encoded by fourteen canonical histone H4 genes, all differing at the nucleotide level but encoding an invariant protein. Here, we present a cohort of 29 subjects with de novo missense variants in six H4 genes (H4C3, H4C4, H4C5, H4C6, H4C9, and H4 …
Human histone H4 is encoded by fourteen canonical histone H4 genes, all differing at the nucleotide level but encoding an invariant p …
Molecular Regulation of the Polycomb Repressive-Deubiquitinase.
Reddington CJ, Fellner M, Burgess AE, Mace PD. Reddington CJ, et al. Int J Mol Sci. 2020 Oct 22;21(21):7837. doi: 10.3390/ijms21217837. Int J Mol Sci. 2020. PMID: 33105797 Free PMC article. Review.
Post-translational modification of histone proteins plays a major role in histone-DNA packaging and ultimately gene expression. Attachment of ubiquitin to the C-terminal tail of histone H2A (H2AK119Ub in mammals) is particularly relevant to the repression of gene tr …
Post-translational modification of histone proteins plays a major role in histone-DNA packaging and ultimately gene expression. Attac …
Assembly of bacterial ribosomes.
Nomura M. Nomura M. Science. 1973 Mar 2;179(4076):864-73. doi: 10.1126/science.179.4076.864. Science. 1973. PMID: 4569247 Review.
I have not mentioned the remarkable progress made mainly by Fellner and his co-workers (86) in the elucidation of the primary structure of rRNA's and by Wittmann and his co-workers (87) in determining the structure of several ribosomal proteins. ...Other groups of investig …
I have not mentioned the remarkable progress made mainly by Fellner and his co-workers (86) in the elucidation of the primary structu …
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
Stern T, Orenstein N, Fellner A, Lev-El Halabi N, Shuldiner AR, Gonzaga-Jauregui C, Lidzbarsky G, Basel-Salmon L, Goldberg-Stern H. Stern T, et al. Am J Med Genet A. 2021 Mar;185(3):901-908. doi: 10.1002/ajmg.a.62026. Epub 2021 Jan 4. Am J Med Genet A. 2021. PMID: 33393734 Review.
A male patient with a de novo mutation in the YWHAG gene and mild phenotype is presented. He had normal delivery and normal development, with normal speech and social milestones. ...Genetic analysis revealed a de novo likely pathogenic missense variant in the YWHAG gene …
A male patient with a de novo mutation in the YWHAG gene and mild phenotype is presented. He had normal delivery and normal developme …
76 results