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CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.

Autor: Leotti, Vanessa B., Vries, Jeroen J., Oliveira, Camila M., Mattos, Eduardo P., Te Meerman, Gerard J., Brunt, Ewout R., Kampinga, Harm H., Jardim, Laura B., Verbeek, Dineke S.

Publikováno v: Annals of Neurology; Jan2021, Vol. 89 Issue 1, p66-73, 8p

Degeneration of the cerebellum and brainstem in Huntington's disease (HD)

Autor: Rüb, Udo, Brunt, Ewout, Heinsen, Helmut, Seidel, Kay, Stratmann, Katharina, Paulson, Henry, Vonsattel, Jean Paul, Den Dunen, Wilfred, Korf, Horst-Werner

Publikováno v: 60th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN); 20150826-20150828; Berlin; DOC15dgnnP2 /20150825/

Introduction: Huntington’s disease (HD) is a progressive polyglutamine disease which is characterized neuropathologically by severe neuronal loss in the striatum and select layers of the neo-and allocortex. The cerebellum and brainstem are among th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b622e4cd432176a30ea8150d157c4c
http://nbn-resolving.de/urn:nbn:de:0183-15dgnn268

Huntington's Disease (HD): Degeneration of Select Nuclei, Widespread Occurrence of Neuronal Nuclear and Axonal Inclusions in the Brainstem

Autor: Rueb, Udo, Hentschel, Matthias, Stratmann, Katharina, Brunt, Ewout, Heinsen, Helmut, Seidel, Kay, Bouzrou, Mohamed, Auburger, Georg, Paulson, Henry, Vonsattel, Jean-Paul, Lange, Herwig, Korf, Horst-Werner, den Dunnen, Wilfred

Publikováno v: BRAIN PATHOLOGY, 24(3), 247-260. Wiley-Blackwell

Huntington's disease (HD) is a progressive polyglutamine disease that leads to a severe striatal and layer-specific neuronal loss in the cerebral neo-and allocortex. As some of the clinical symptoms (eg, oculomotor dysfunctions) suggested a degenerat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::0f8d50454030b4846ad4f3090962c13e
https://research.rug.nl/en/publications/7a884f92-a333-44ec-ad66-8e8ac17bf58a

In children with Friedreich ataxia, muscle and ataxia parameters are associated

Autor: Sival, Deborah A., Pouwels, Maria E., van Brederode, Agnes, Maurits, Natasha M., Verschuuren - Bemelmans, Corien C., Brunt, Ewout R., Sarvaas, Gideon J. Du Marchie, Verbeek, Renate J., Brouwer, Oebele F., van der Hoeven, Johannes H.

Publikováno v: Sival, D A, Pouwels, M E, van Brederode, A, Maurits, N M, Verschuuren-Bemelmans, C C, Brunt, E R, du Marchie Sarvaas, G J, Verbeek, R J, Brouwer, O F & van der Hoeven, J H 2011, ' In children with Friedreich ataxia, muscle and ataxia parameters are associated ', Developmental Medicine and Child Neurology, vol. 53, no. 6, pp. 529-534 . https://doi.org/10.1111/j.1469-8749.2011.03931.x
Developmental Medicine and Child Neurology, 53(6), 529-534. Wiley-Blackwell
Developmental Medicine and Child Neurology, 53(6), 529-534. Blackwell Publishing Ltd

Aim In children with Friedreich ataxia (FRDA), ataxia is assessed using the surrogate marker the International Cooperative Ataxia Rating Scale (ICARS). We aimed to determine whether ICARS scores in children with FRDA are confounded by muscle weakness

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::953f5fa61688377c3b9c3e7095337fc0
https://research.vumc.nl/en/publications/b709ab93-7d82-43d9-86c7-157f3db197a4