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Cell Reports|February 16, 2017
The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP AssemblyPaul G Donlin-Asp, Claudia Fallini, Jazmin Campos, et al.Frontiers in Genetics|March 16, 2026
Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patientSerena Santangelo, Valeria Casiraghi, Claudia Fallini, et al.Plos One|July 5, 2012
Coaggregation of RNA-binding proteins in a model of TDP-43 proteinopathy with selective RGG motif methylation and a role for RRM1 ubiquitinationEric B Dammer, Claudia Fallini, Yair M Gozal, et al.Scientific Reports|March 10, 2017
ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activationReddy Ranjith K Sama, Claudia Fallini, Rodolfo Gatto, et al.Neurology. Genetics|June 25, 2021
Novel <i>TUBA4A</i> Variant Associated With Familial Frontotemporal DementiaMerel O Mol, Tsz H Wong, Shamiram Melhem, et al.Cell Reports|April 6, 2022
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of functionDesiree M Baron, Adam R Fenton, Sara Saez-Atienzar, et al.Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.Neuron|November 7, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALSBradley N Smith, Nicola Ticozzi, Claudia Fallini, et al.Nature Genetics|July 26, 2016
NEK1 variants confer susceptibility to amyotrophic lateral sclerosisKevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, et al.Pageof 4