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Page 1
Noncoding copy-number variations are associated with congenital limb malformation.
Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M. Flöttmann R, et al. Among authors: kurth i. Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29236091 Free article.
Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors.
Namer B, Schmidt D, Eberhardt E, Maroni M, Dorfmeister E, Kleggetveit IP, Kaluza L, Meents J, Gerlach A, Lin Z, Winterpacht A, Dragicevic E, Kohl Z, Schüttler J, Kurth I, Warncke T, Jorum E, Winner B, Lampert A. Namer B, et al. Among authors: kurth i. EBioMedicine. 2019 Jan;39:401-408. doi: 10.1016/j.ebiom.2018.11.042. Epub 2018 Nov 28. EBioMedicine. 2019. PMID: 30503201 Free PMC article.
[Neuropathic pain syndromes and channelopathies].
Dohrn MF, Lampert A, Üçeyler N, Kurth I. Dohrn MF, et al. Among authors: kurth i. Internist (Berl). 2019 Jan;60(1):90-97. doi: 10.1007/s00108-018-0535-x. Internist (Berl). 2019. PMID: 30564884 Review. German.
The difficulty to model Huntington's disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells.
Le Cann K, Foerster A, Rösseler C, Erickson A, Hautvast P, Giesselmann S, Pensold D, Kurth I, Rothermel M, Mattis VB, Zimmer-Bensch G, von Hörsten S, Denecke B, Clarner T, Meents J, Lampert A. Le Cann K, et al. Among authors: kurth i. Sci Rep. 2021 Mar 25;11(1):6934. doi: 10.1038/s41598-021-85656-x. Sci Rep. 2021. PMID: 33767215 Free PMC article.
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study.
Egenolf N, Zu Altenschildesche CM, Kreß L, Eggermann K, Namer B, Gross F, Klitsch A, Malzacher T, Kampik D, Malik RA, Kurth I, Sommer C, Üçeyler N. Egenolf N, et al. Among authors: kurth i. Ther Adv Neurol Disord. 2021 Mar 23;14:17562864211004318. doi: 10.1177/17562864211004318. eCollection 2021. Ther Adv Neurol Disord. 2021. PMID: 34335876 Free PMC article.
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Klopocki E, et al. Among authors: kurth i. J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6. J Med Genet. 2012. PMID: 22147889
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.
Leipold E, Hanson-Kahn A, Frick M, Gong P, Bernstein JA, Voigt M, Katona I, Oliver Goral R, Altmüller J, Nürnberg P, Weis J, Hübner CA, Heinemann SH, Kurth I. Leipold E, et al. Among authors: kurth i. Nat Commun. 2015 Dec 8;6:10049. doi: 10.1038/ncomms10049. Nat Commun. 2015. PMID: 26645915 Free PMC article.
220 results