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Titolo Data di pubblicazione Autori Tipo File Abstract
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation 2018 MAGRI, STEFANIAGhezzi, DanieleRusmini, PaolaPoletti, Angelo + Article (author) -
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations 2021 Abati, ElenaMagri, StefaniaMeneri, MegiBresolin, NereoComi, Giacomo PietroRonchi, DarioCorti, Stefania + Article (author) -
Analysis of the autophagic response in models of KIF5A-related neurodegeneration 2021 Cozzi MartaTedesco BarbaraCristofani RiccardoGalbiati MariaritaRusmini PaolaCrippa ValeriaPiccolella MargheritaFerrari VeronicaCasarotto ElenaChierichetti MartaMina FrancescoMagri StefaniaPoletti Angelo + Conference Object -
Identification of a new candidate gene in the insurgence of leukodystrophies 2022 Pezzotta ASpreafico MMagri SSalsano ETaroni FPistocchi A + Conference Object -
Investigating the molecular mechanisms involved in KIF5A-related neurodegeneration 2022 Marta CozziBarbara TedescoRiccardo CristofaniVeronica FerrariElena CasarottoMarta ChierichettiFrancesco MinaMargherita PiccolellaMariarita GalbiatiPaola RusminiValeria CrippaStefania MagriSerena SantangeloAntonia RattiAngelo Poletti + Conference Object -
Modeling a novel N-terminal mutation of KIF5A gene in patient-derived iPSC-motoneurons 2022 S. SantangeloP. BossolascoC. FalliniS. MagriM. BertocchiS. InvernizziD. BardelliC. ColombritaV. SilaniF. TaroniA. Ratti + Conference Object -
Characterization of iPSC-motoneurons from a HSP patient with a novel mutation in KIF5A N-terminal region Characterization of iPSCmotoneurons from a HSP patient with a novel mutation in KIF5A N-terminal region 2022 S. SantangeloP. BossolascoC. FalliniS. MagriM. BertocchiS. InvernizziD. BardelliC. ColombritaV. SilaniF. TaroniA. Ratti + Conference Object -
STIP1 Homology And U-Box Containing Protein 1 (STUB1/CHIP) mutants as a key factor on TATA-box binding protein (TBP) behaviour in digenic spinocerebellar ataxia type 17 (SCA17-DI) 2023 Paola PramaggioreStefania MagriMarta ChierichettiPaola RusminiVeronica FerrariBarbara TedescoMarta CozziElena CasarottoValeria CrippaMariarita GalbiatiLaura CornaggiaGuglielmo PatelliAngelo PolettiRiccardo Cristofani + Conference Object -
Mostrati risultati da 1 a 8 di 8
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