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Evan Reid

Showing results (31-40 of 47) with videos related to

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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.
The Journal of Clinical Investigation|January 11, 2012
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12Gladys Montenegro, Adriana P Rebelo, James Connell, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
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.
The Journal of Clinical Investigation|January 11, 2012
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12Gladys Montenegro, Adriana P Rebelo, James Connell, et al.
Pageof 5