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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: kurth i. 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.
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: kurth i. 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
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: kurth i. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.
Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP. Huppke P, et al. Among authors: kurth i. Exp Neurol. 2019 Oct;320:112958. doi: 10.1016/j.expneurol.2019.112958. Epub 2019 May 24. Exp Neurol. 2019. PMID: 31132363
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.
Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M. Elbracht M, et al. Among authors: kurth i. Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26. Neuropediatrics. 2017. PMID: 28024309
207 results