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1 Ergebnisse
1
Novel UBQLN2 mutations linked to Amyotrophic Lateral Sclero..:
Teyssou, Elisa
;
Chartier, Laura
;
Amador, Maria-Del-Mar
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neurobiolaging.2017.06.018. , 2017
Link:
https://hal.archives-ouvertes.fr/hal-03001781
RT Journal T1
Novel UBQLN2 mutations linked to Amyotrophic Lateral Sclerosis and atypical Hereditary Spastic Paraplegia phenotype through defective HSP70-mediated proteolysis
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-03001781v1&Exemplar=1&LAN=DE A1 Teyssou, Elisa A1 Chartier, Laura A1 Amador, Maria-Del-Mar A1 Lam, Roselina A1 Lautrette, Géraldine A1 Nicol, Marie A1 Machat, Selma A1 Da Barroca, Sandra A1 Moigneu, Carine A1 Mairey, Mathilde A1 Larmonier, Thierry A1 Saker, Safaa A1 Dussert, Christelle A1 Forlani, Sylvie A1 Fontaine, Bertrand A1 Seilhean, Danielle A1 Bohl, Delphine A1 Boillée, Séverine A1 Meininger, Vincent A1 Couratier, Philippe A1 Salachas, François A1 Stevanin, Giovanni A1 Millecamps, Stéphanie PB HAL CCSD; Elsevier YR 2017 K1 Missense/*genetics K1 Protein Domains/genetics K1 Mutation K1 Humans K1 Male K1 Female K1 Aged K1 Middle Aged K1 *Genetic Association Studies K1 *Phenotype K1 *Proteolysis K1 80 and over K1 Amyotrophic Lateral Sclerosis/*genetics K1 Cell Cycle Proteins/chemistry/*genetics/metabolism K1 Dimerization K1 Frontotemporal Dementia/*genetics K1 HSP70 Heat-Shock Proteins/*genetics/*metabolism K1 Spastic Paraplegia K1 Hereditary/*genetics K1 Ubiquitins/chemistry/*genetics/metabolism K1 X Chromosome Inactivation K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neurobiolaging.2017.06.018 LK http://dx.doi.org/https://hal.archives-ouvertes.fr/hal-03001781 DO https://hal.archives-ouvertes.fr/hal-03001781 SF ELIB - SuUB Bremen
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