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Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
Castori M, Morlino S, Ungelenk M, Pareyson D, Salsano E, Grammatico P, Tolosano E, Kurth I, Chiabrando D. Castori M, et al. Among authors: ungelenk m. Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):732-739. doi: 10.1002/ajmg.b.32570. Epub 2017 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28766925
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
Chiabrando D, Castori M, di Rocco M, Ungelenk M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Bartsch S, Hübner CA, Altruda F, Silengo L, Tolosano E, Kurth I. Chiabrando D, et al. Among authors: ungelenk m. PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461. eCollection 2016 Dec. PLoS Genet. 2016. PMID: 27923065 Free PMC article.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: ungelenk m. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasms.
Jayavelu AK, Schnöder TM, Perner F, Herzog C, Meiler A, Krishnamoorthy G, Huber N, Mohr J, Edelmann-Stephan B, Austin R, Brandt S, Palandri F, Schröder N, Isermann B, Edlich F, Sinha AU, Ungelenk M, Hübner CA, Zeiser R, Rahmig S, Waskow C, Coldham I, Ernst T, Hochhaus A, Jilg S, Jost PJ, Mullally A, Bullinger L, Mertens PR, Lane SW, Mann M, Heidel FH. Jayavelu AK, et al. Among authors: ungelenk m. Nature. 2020 Dec;588(7836):157-163. doi: 10.1038/s41586-020-2968-3. Epub 2020 Nov 25. Nature. 2020. PMID: 33239784
Associations of common genetic risk variants of the muscarinic acetylcholine receptor M2 with cardiac autonomic dysfunction in patients with schizophrenia.
Refisch A, Komatsuzaki S, Ungelenk M, Chung HY, Schumann A, Schilling SS, Jantzen W, Schröder S, Mühleisen TW, Nöthen MM, Hübner CA, Bär KJ. Refisch A, et al. Among authors: ungelenk m. World J Biol Psychiatry. 2023 Jan;24(1):1-11. doi: 10.1080/15622975.2022.2043561. Epub 2022 Mar 9. World J Biol Psychiatry. 2023. PMID: 35172679
15 results