Showing results (31-40 of 48) with videos related to
Sort By:
Pageof 5
Human Molecular Genetics|July 2, 2013
Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIBBenoit D Roussel, Timothy M Newton, Elke Malzer, et al.European Journal of Human Genetics : EJHG|September 16, 2020
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes ProjectThomas Bourinaris, Damian Smedley, Valentina Cipriani, et al.The Journal of Cell Biology|April 9, 2017
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaRachel Allison, James R Edgar, Guy Pearson, et al.Annals of Neurology|December 19, 2003
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32Sergiu C Blumen, Simon Bevan, Saif Abu-Mouch, et al.American Journal of Human Genetics|October 2, 2002
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)Evan Reid, Mark Kloos, Allison Ashley-Koch, et al.Nature Genetics|July 17, 2007
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthJenny Douglas, Deirdre Cilliers, Kim Coleman, et al.Epilepsia|June 15, 2007
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalitiesCarla Marini, Davide Mei, Teresa Temudo, et al.Neurology|April 22, 2021
[<sup>11</sup>C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial DiseaseJelle van den Ameele, Young T Hong, Roido Manavaki, et al.Nature Communications|November 6, 2020
Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNSVeselina Petrova, Craig S Pearson, Jared Ching, et al.Brain : a Journal of Neurology|February 27, 2018
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegiaTimothy Newton, Rachel Allison, James R Edgar, et al.Pageof 5