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83 results

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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: casadei n. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.
Kishore A, Sturm M, Soman Pillai K, Hakkaart C, Kalikavil Puthanveedu D, Urulangodi M, Krishnan S, Ashok Kumar Sreelatha A, Rajan R, Pal PK, Yadav R, Sarma G, Casadei N, Gasser T, Bauer P, Riess O, Sharma M. Kishore A, et al. Among authors: casadei n. NPJ Parkinsons Dis. 2024 Apr 15;10(1):85. doi: 10.1038/s41531-024-00676-4. NPJ Parkinsons Dis. 2024. PMID: 38622158 Free PMC article.
A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease.
Sharma K, Kishore A, Lechado-Terradas A, Passannanti R, Raimondi F, Sturm M, Sreelatha AAK, Puthenveedu DK, Sarma G, Casadei N, Krüger R, Gasser T, Kahle P, Riess O, Fitzgerald JC, Sharma M. Sharma K, et al. Among authors: casadei n. Mov Disord. 2024 Apr 8. doi: 10.1002/mds.29792. Online ahead of print. Mov Disord. 2024. PMID: 38586902
Genomes in clinical care.
Riess O, Sturm M, Menden B, Liebmann A, Demidov G, Witt D, Casadei N, Admard J, Schütz L, Ossowski S, Taylor S, Schaffer S, Schroeder C, Dufke A, Haack T. Riess O, et al. Among authors: casadei n. NPJ Genom Med. 2024 Mar 14;9(1):20. doi: 10.1038/s41525-024-00402-2. NPJ Genom Med. 2024. PMID: 38485733 Free PMC article. Review.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L, Riess O; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Costa MDC, Lima M. Raposo M, et al. Among authors: casadei n. Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27. Neurobiol Dis. 2024. PMID: 38423193 Free article.
Augmenting MEK inhibitor efficacy in BRAF wild-type melanoma: synergistic effects of disulfiram combination therapy.
Meraz-Torres F, Niessner H, Plöger S, Riel S, Schörg B, Casadei N, Kneilling M, Schaller M, Flatz L, Macek B, Eigentler T, Rieß O, Garbe C, Amaral T, Sinnberg T. Meraz-Torres F, et al. Among authors: casadei n. J Exp Clin Cancer Res. 2024 Jan 23;43(1):30. doi: 10.1186/s13046-023-02941-5. J Exp Clin Cancer Res. 2024. PMID: 38263136 Free PMC article.
Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.
Pachchek S, Landoulsi Z, Pavelka L, Schulte C, Buena-Atienza E, Gross C, Hauser AK, Reddy Bobbili D, Casadei N, May P, Krüger R; NCER-PD Consortium. Pachchek S, et al. Among authors: casadei n. NPJ Parkinsons Dis. 2023 Dec 18;9(1):168. doi: 10.1038/s41531-023-00613-x. NPJ Parkinsons Dis. 2023. PMID: 38110362 Free PMC article. No abstract available.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: casadei n. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
83 results