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Page 1
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: deininger n. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.
Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M. Traschütz A, et al. Among authors: deininger n. Parkinsonism Relat Disord. 2019 May;62:215-220. doi: 10.1016/j.parkreldis.2018.11.027. Epub 2018 Nov 29. Parkinsonism Relat Disord. 2019. PMID: 30522958
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB. Park J, et al. Among authors: deininger n. J Med Genet. 2020 Apr;57(4):283-288. doi: 10.1136/jmedgenet-2019-106273. Epub 2019 Aug 22. J Med Genet. 2020. PMID: 31439721 Free PMC article.
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Park J, Deininger N, Rautenberg M, Saft C, Harmuth F, Sturm M, Riess O, Schöls L, Synofzik M, Haack TB. Park J, et al. Among authors: deininger n. Genet Med. 2021 Jun;23(6):1171-1172. doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564152 Free PMC article. No abstract available.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. Coutelier M, et al. Among authors: deininger n. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. Brain. 2022. PMID: 34788392
Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.
Herrmann L, Gelderblom M, Bester M, Deininger N, Schütze T, Hidding U, Gross C, Buena-Atienza E, Dufke C, Gerloff C, Haack TB, Zittel S. Herrmann L, et al. Among authors: deininger n. Parkinsonism Relat Disord. 2022 Feb;95:54-56. doi: 10.1016/j.parkreldis.2022.01.001. Epub 2022 Jan 6. Parkinsonism Relat Disord. 2022. PMID: 35030450 No abstract available.
A Novel NPTX1 de novo Variant in a Late-Onset Ataxia Patient.
Deppe J, Deininger N, Lingor P, Haack TB, Haslinger B, Deschauer M. Deppe J, et al. Among authors: deininger n. Mov Disord. 2022 Jun;37(6):1319-1321. doi: 10.1002/mds.28985. Epub 2022 Mar 14. Mov Disord. 2022. PMID: 35285082 No abstract available.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Cordts I, Önder D, Traschütz A, Kobeleva X, Karin I, Minnerop M, Koertvelyessy P, Biskup S, Forchhammer S, Binder J, Tzschach A, Meiss F, Schmidt A, Kreiß M, Cremer K, Mensah MA, Park J, Rautenberg M, Deininger N, Sturm M, Lingor P, Klopstock T, Weiler M, Marxreiter F, Synofzik M, Posch C, Sirokay J, Klockgether T, Haack TB, Deschauer M. Cordts I, et al. Among authors: deininger n. Mov Disord. 2022 Aug;37(8):1707-1718. doi: 10.1002/mds.29071. Epub 2022 Jun 14. Mov Disord. 2022. PMID: 35699229
15 results