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Case of the month: a newborn with tight skin and joint contractures.
Das-Kundu S, Klünemann HH, Mieth D, Spycher M, Stallmach T, Schinzel A. Das-Kundu S, et al. Among authors: klunemann hh. Eur J Pediatr. 1996 Nov;155(11):987-9. doi: 10.1007/BF02282893. Eur J Pediatr. 1996. PMID: 8911903 No abstract available.
Systematic review of psychiatric signs in Niemann-Pick disease type C.
Bonnot O, Klünemann HH, Velten C, Torres Martin JV, Walterfang M. Bonnot O, et al. Among authors: klunemann hh. World J Biol Psychiatry. 2019 Apr;20(4):320-332. doi: 10.1080/15622975.2018.1441548. Epub 2018 Mar 12. World J Biol Psychiatry. 2019. PMID: 29457916
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T. Patterson MC, et al. Among authors: klunemann hh. Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Neurol Clin Pract. 2017. PMID: 29431164 Free PMC article. Review.
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. Hendriksz CJ, et al. Among authors: klunemann hh. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Curr Med Res Opin. 2017. PMID: 28276873 Free article. Review.
Rare variants in LRRK1 and Parkinson's disease.
Schulte EC, Ellwanger DC, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes HW, Meitinger T, Lewis PA, Klünemann HH, Winkelmann J. Schulte EC, et al. Among authors: klunemann hh. Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16. Neurogenetics. 2014. PMID: 24241507 Free PMC article.
34 results