Zobrazeno 1 - 3
of 3
pro vyhledávání: '"classification [Spastic Paraplegia, Hereditary]"'
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:
Jonathan Baets, Adolfo López de Munain, Maria Grazia D'Angelo, Tobias Lindig, Marion Döbler-Neumann, Rebecca Schüle, Jennifer Reichbauer, Anne S. Söhn, Martine Debyser, Alexander Münchau, Tim W. Rattay, Stephan Züchner, Barbara Plecko, Tine Deconinck, Peter De Jonghe, Maria Teresa Bassi, Ludger Schöls, Ingeborg Krägeloh-Mann, Katrien Smets, Marc Janauschek, Kathrin N. Eckstein, Anne-Katrin Giese, Konstanze Hörtnagel, Bernd Wilken, Jan De Bleecker, Els Ortibus, Sarah Wiethoff, Aurora Pujol, Michaela Auer-Grumbach, Peter Bauer
Publikováno v:
Brain
Brain 142(6), 1561-1572 (2019). doi:10.1093/brain/awz102
Brain 142(6), 1561-1572 (2019). doi:10.1093/brain/awz102
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d6c0ffce84188cdd05f2f64dd70fb49
https://europepmc.org/articles/PMC6536916/
https://europepmc.org/articles/PMC6536916/
Publikováno v:
Der Nervenarzt 88(7), 720-727 (2017). doi:10.1007/s00115-017-0357-4
Hereditary ataxias and spastic paraplegias are genetic disorders with age-dependent nearly complete penetrance. The mostly monogenetic etiology allows one to establish the diagnosis, study pathogenesis and to develop new causative therapeutic approac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::abcdca8aaf418d2621a2f7019d30291c
https://pub.dzne.de/record/139361
https://pub.dzne.de/record/139361