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Hypomyelinating leukodystrophies: translational research progress and prospects.
Pouwels PJ, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SC, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich AJ. Pouwels PJ, et al. Among authors: kohlschutter a. Ann Neurol. 2014 Jul;76(1):5-19. doi: 10.1002/ana.24194. Epub 2014 Jun 24. Ann Neurol. 2014. PMID: 24916848 Free article. Review.
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ; Care4Rare Consortium; van der Knaap MS, Wolf NI. Simons C, et al. Among authors: kohlschutter a. Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314. Brain. 2017. PMID: 29186371 Free PMC article.
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J. Henneke M, et al. Among authors: kohlschutter a. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.
Schossig A, Wolf NI, Kapferer I, Kohlschütter A, Zschocke J. Schossig A, et al. Among authors: kohlschutter a. Eur J Med Genet. 2012 May;55(5):319-22. doi: 10.1016/j.ejmg.2012.02.008. Epub 2012 Mar 28. Eur J Med Genet. 2012. PMID: 22522085 Review.
Kohlschutter-Tonz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect with yellow or brownish discoloration of the teeth. ...Epilepsy usually starts within the first or second year of life. All affected indivi …
Kohlschutter-Tonz syndrome is a rare genetic disorder with epilepsy, psychomotor regression, and a severe enamel defect …
[Leukodystrophies: diseases of white matter of the nervous system].
Gärtner J, Kohlschütter A, Gieselmann V. Gärtner J, et al. Among authors: kohlschutter a. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007 Dec;50(12):1531-40. doi: 10.1007/s00103-007-0388-2. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007. PMID: 18026884 Review. German.
Childhood leukodystrophies: a clinical perspective.
Kohlschütter A, Eichler F. Kohlschütter A, et al. Expert Rev Neurother. 2011 Oct;11(10):1485-96. doi: 10.1586/ern.11.135. Expert Rev Neurother. 2011. PMID: 21955203 Review.
199 results