neueste Forschungsergebnisse in HSP
REPORT
A=abstract | speaker | title |
---|---|---|
Novarino, Gaia (Wien, AUT) | The HSPome: a journey into the genetic landscape of hereditary spastic paraplegias | |
Stevanin, Giovanni (Paris, FRA) | Unexpected variants and inheritance in HSP genes | |
Züchner, Stephan (Miami, U.S.A.) | Gene identification in HSP, the handling of large scale genomic data, and sharing of genomic results across countries | |
A | Vaz, Frederic (Amsterdam, NED) | Update on lipidomic approaches in disorders affecting complex lipid metabolism |
A | Schöls, Ludger (Tübingen, GER) | Hereditary Spastic Paraplegias: phenotype and disease course in a cohort of 600 cases |
Schüle, Rebecca (Miami, U.S.A.) | Hereditary Spastic Paraplegia SPG5: Phenotypic determinants, natural history, biomarkers and a treatment strategy | |
Allison, Rachel (Cambridge, U.K.) | Spastin's role at endosomes: not just tubules | |
A | Baas, Peter (Philadelphia, U.S.A.) | Hereditary Spastic Paraplegia 4: Mechanism and Therapy from a Microtubule-Biologist’s PerspectiveA |
Winner, Beate (Erlangen, GER) | Human in vitro modeling of HSP | |
Edgar, James (Cambridge, U.K.) | Characterising endolysosomal defects in HSP | |
Bassi, Maria-Teresa (Lecco, ITA) | Spastizin in hereditary spastic paraplegia type 15: a large and complex protein with different functions | |
Blackstone, Craig (Betheshda, U.S.A.) | Lysosomal biogenesis defects in HSP with thin corpus callosum | |
Pol, Albert (Barcelona, ESP) | Biogenesis of lipid droplets: lipids, proteins, and sites | |
Klemm, Robin (Zürich, SUI) | A role for ER morphology remodeling in lipid droplet size regulation | |
Cahir O’Kane (Cambridge, U.K.) | Role of Drosophila intramembrane hairpin proteins in organisation of axonal endoplasmic reticulum | |
Rugarli, Elena (Köln, GER) | A link between spastin and lipid metabolism: implications for HSP | |
PICTURES |
Organisation
Scientific responsibility
Prof. Christian Hübner and Dr. Christian Beetz, Jena
Organisation
Tom Wahlig Foundation office Muenster
Veghestrasse 22
48149-Münster
Mail: info@hsp-info.de
phone: +49-251-20079120