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Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E. Verdura E, et al. Among authors: kuhlenbaumer g. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.
Thier S, Lorenz D, Nothnagel M, Poremba C, Papengut F, Appenzeller S, Paschen S, Hofschulte F, Hussl AC, Hering S, Poewe W, Asmus F, Gasser T, Schöls L, Christensen K, Nebel A, Schreiber S, Klebe S, Deuschl G, Kuhlenbäumer G. Thier S, et al. Among authors: kuhlenbaumer g. Neurology. 2012 Jul 17;79(3):243-8. doi: 10.1212/WNL.0b013e31825fdeed. Epub 2012 Jul 3. Neurology. 2012. PMID: 22764253 Free PMC article.
Genetics of essential tremor: meta-analysis and review.
Kuhlenbäumer G, Hopfner F, Deuschl G. Kuhlenbäumer G, et al. Neurology. 2014 Mar 18;82(11):1000-7. doi: 10.1212/WNL.0000000000000211. Epub 2014 Feb 14. Neurology. 2014. PMID: 24532269 Review.
Early-onset parkinsonism due to compound heterozygous POLG mutations.
Rempe T, Kuhlenbäumer G, Krüger S, Biskup S, Matschke J, Hagel C, Deuschl G, van Eimeren T. Rempe T, et al. Among authors: kuhlenbaumer g. Parkinsonism Relat Disord. 2016 Aug;29:135-7. doi: 10.1016/j.parkreldis.2016.04.020. Epub 2016 Apr 27. Parkinsonism Relat Disord. 2016. PMID: 27185166 No abstract available.
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.
Helbig I, Barcia G, Pendziwiat M, Ganesan S, Mueller SH, Helbig KL, Vaidiswaran P, Xian J, Galer PD, Afawi Z, Specchio N, Kluger G, Kuhlenbäumer G, Appenzeller S, Wittig M, Kramer U, van Baalen A, Nabbout R; FIRES Genetics Study Group. Helbig I, et al. Among authors: kuhlenbaumer g. Ann Clin Transl Neurol. 2020 Aug;7(8):1429-1435. doi: 10.1002/acn3.51062. Epub 2020 Jul 14. Ann Clin Transl Neurol. 2020. PMID: 32666661 Free PMC article.
Autosomal dominant burning feet syndrome.
Stögbauer F, Young P, Kuhlenbäumer G, Kiefer R, Timmerman V, Ringelstein EB, Wang JF, Schröder JM, Van Broeckhoven C, Weis J. Stögbauer F, et al. Among authors: kuhlenbaumer g. J Neurol Neurosurg Psychiatry. 1999 Jul;67(1):78-81. doi: 10.1136/jnnp.67.1.78. J Neurol Neurosurg Psychiatry. 1999. PMID: 10369826 Free PMC article.
161 results