Zobrazeno 1 - 5
of 5
pro vyhledávání: '"classification [Spinocerebellar Ataxias]"'
Autor:
Matthis Synofzik, Rebecca Schüle
Publikováno v:
Movement disorders 32(3), 332-345 (2017). doi:10.1002/mds.26944
Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. This classification system still largel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36f8f3cee0073e964c5ded92be5e162f
https://doi.org/10.1002/mds.26944
https://doi.org/10.1002/mds.26944
Autor:
Massimo Pandolfo, Sylvia Boesch, Laszlo Baliko, Thomas Klockgether, Sandra Szymanski, Ludger Schöls, Alessandro Filla, Anna Sulek, Arron Cook, Bart P.C. van de Warrenburg, Heike Jacobi, Maria Rakowicz, Jun Suk Kang, Holger Hengel, Michael H Parkinson, Dagmar Timmann, Anna Sobanska, Jon Infante, Alexis Brice, Peter Bauer, Jörg B. Schulz, Lorenzo Nanetti, Sophie Tezenas du Montcel, Antonella Antenora, Cecilia Marelli, Alexandra Durr, Paola Giunti, Robyn Labrum, Marta Panzeri, Béla Melegh, Alhassane Diallo, Perrine Charles, Caterina Mariotti, Sonia Molho, José Berciano, Tanja Schmitz-Hübsch
Publikováno v:
The lancet / Neurology 14(11), 1101-1108 (2015). doi:10.1016/S1474-4422(15)00202-1
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Item does not contain fulltext BACKGROUND: Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases. As potential treatments for these diseases are being developed, precise knowledge of their natural history is needed. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534c17ecab923dbbb896a52ac0d70e3c
https://doi.org/10.1016/s1474-4422(15)00202-1
https://doi.org/10.1016/s1474-4422(15)00202-1
Publikováno v:
Der Nervenarzt 84(2), 137-142 (2013). doi:10.1007/s00115-012-3637-z
Spinocerebellar ataxias are genetically heterogeneous autosomal dominant ataxia disorders. To date more than 30 different subtypes are known. In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::49939c224f4006d606f1d82d73ee0b08
https://pubmed.ncbi.nlm.nih.gov/23338152
https://pubmed.ncbi.nlm.nih.gov/23338152
Autor:
L. Baliko, Dagmar Timmann, B.P.C. van de Warrenburg, Paola Giunti, Thomas Klockgether, Béla Melegh, A. Filla, C. Schaub, Caterina Mariotti, Christoph Linnemann, Maria Rakowicz, Jun Suk Kang, M. Küper, Perrine Charles, Alexandra Durr, Roberto Fancellu, Rafał Rola, O. Kaut, Heike Jacobi, Rolf Fimmers, Ludger Schöls
Publikováno v:
Cerebellum, 12, 3, pp. 418-28
The Cerebellum 12(3), 418-428 (2012). doi:10.1007/s12311-012-0421-3
Cerebellum, 12, 418-28
The Cerebellum 12(3), 418-428 (2012). doi:10.1007/s12311-012-0421-3
Cerebellum, 12, 418-28
Item does not contain fulltext Although ataxia is by definition the prominent symptom of ataxia disorders, there are various neurological signs that may accompany ataxia in affected patients. Reliable and quantitative assessment of these signs is imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a23e395d63938c413a839cf8a92de64
https://hdl.handle.net/2066/118689
https://hdl.handle.net/2066/118689
Autor:
Jacobi, H., Bauer, P., Giunti, P., Labrum, R., Sweeney, M.G., Charles, P., Dürr, A., Marelli, C., Globas, C., Linnemann, C., Schöls, L., Rakowicz, M., Rola, R., Zdzienicka, E., Schmitz-Hübsch, T., Fancellu, R., Mariotti, C., Tomasello, C., Baliko, L., Melegh, B., Filla, A., Rinaldi, C., Van De Warrenburg, B.P., Verstappen, C.C.P., Szymanski, S., Berciano, J., Infante, J., Timmann-Braun, Dagmar, Boesch, S., Hering, S., Depondt, C., Pandolfo, M., Kang, J.-S., Ratzka, S., Schulz, J., Du Montcel, S. Tezenas, Klockgether, T., Tezenas du Montcel, S.
Publikováno v:
Neurology 77(11), 1035-1041 (2011). doi:10.1212/WNL.0b013e31822e7ca0
Neurology, 77, 1035-41
Neurology, 77, 11, pp. 1035-41
Neurology, 77, 1035-41
Neurology, 77, 11, pp. 1035-41
Item does not contain fulltext OBJECTIVE: To obtain quantitative data on the progression of the most common spinocerebellar ataxias (SCAs) and identify factors that influence their progression, we initiated the EUROSCA natural history study, a multic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf3918d025568341533f424e93b83912
https://doi.org/10.1212/WNL.0b013e31822e7ca0
https://doi.org/10.1212/WNL.0b013e31822e7ca0