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Page 1
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: tranchant c. 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.
[Autosomal recessive cerebellar ataxias].
Tranchant C, Anheim M. Tranchant C, et al. Presse Med. 2009 Dec;38(12):1852-9. doi: 10.1016/j.lpm.2009.01.025. Epub 2009 May 12. Presse Med. 2009. PMID: 19442480 Review. French.
The autosomal recessive cerebellar ataxias.
Anheim M, Tranchant C, Koenig M. Anheim M, et al. Among authors: tranchant c. N Engl J Med. 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610. N Engl J Med. 2012. PMID: 22335741 Review. No abstract available.
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism.
Mallaret M, Lagha-Boukbiza O, Biskup S, Namer IJ, Rudolf G, Anheim M, Tranchant C. Mallaret M, et al. Among authors: tranchant c. J Neurol. 2014 Feb;261(2):435-7. doi: 10.1007/s00415-013-7216-4. Epub 2013 Dec 24. J Neurol. 2014. PMID: 24366652 No abstract available.
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M. Mallaret M, et al. Among authors: tranchant c. Brain. 2014 Feb;137(Pt 2):411-9. doi: 10.1093/brain/awt338. Epub 2013 Dec 24. Brain. 2014. PMID: 24369382 Free PMC article.
434 results