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Marka van Blitterswijk

Showing results (41-50 of 89) with videos related to

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Human Molecular Genetics|June 23, 2017
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patientsMercedes Prudencio, Patrick K Gonzales, Casey N Cook, et al.
Acta Neuropathologica|October 17, 2013
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALSTania F Gendron, Kevin F Bieniek, Yong-Jie Zhang, et al.
Molecular Neurodegeneration|August 22, 2018
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseMark T W Ebbert, Stefan L Farrugia, Jonathon P Sens, et al.
Neurology|July 31, 2012
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseasesWouter van Rheenen, Marka van Blitterswijk, Mark H B Huisman, et al.
Science Advances|May 2, 2025
Characterizing the expression profile of 3R tau pathology in Pick's diseaseNicole Tamvaka, Alexandra I Soto-Beasley, Marios Gavrielatos, et al.
Brain : a Journal of Neurology|December 17, 2021
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutationsCyril Pottier, Ligia Mateiu, Matthew C Baker, et al.
Acta Neuropathologica|April 19, 2024
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansionEvan Udine, Mariely DeJesus-Hernandez, Shulan Tian, et al.
American Journal of Human Genetics|May 26, 2015
Jump from pre-mutation to pathologic expansion in C9orf72Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, et al.
Acta Neuropathologica|May 7, 2015
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron diseaseCyril Pottier, Kevin F Bieniek, NiCole Finch, et al.
The Lancet. Neurology|September 10, 2013
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort studyMarka van Blitterswijk, Mariely DeJesus-Hernandez, Ellis Niemantsverdriet, et al.
Pageof 9

Showing results (41-50 of 89) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|June 23, 2017
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patientsMercedes Prudencio, Patrick K Gonzales, Casey N Cook, et al.
Acta Neuropathologica|October 17, 2013
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALSTania F Gendron, Kevin F Bieniek, Yong-Jie Zhang, et al.
Molecular Neurodegeneration|August 22, 2018
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseMark T W Ebbert, Stefan L Farrugia, Jonathon P Sens, et al.
Neurology|July 31, 2012
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseasesWouter van Rheenen, Marka van Blitterswijk, Mark H B Huisman, et al.
Science Advances|May 2, 2025
Characterizing the expression profile of 3R tau pathology in Pick's diseaseNicole Tamvaka, Alexandra I Soto-Beasley, Marios Gavrielatos, et al.
Brain : a Journal of Neurology|December 17, 2021
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutationsCyril Pottier, Ligia Mateiu, Matthew C Baker, et al.
Acta Neuropathologica|April 19, 2024
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansionEvan Udine, Mariely DeJesus-Hernandez, Shulan Tian, et al.
American Journal of Human Genetics|May 26, 2015
Jump from pre-mutation to pathologic expansion in C9orf72Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, et al.
Acta Neuropathologica|May 7, 2015
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron diseaseCyril Pottier, Kevin F Bieniek, NiCole Finch, et al.
The Lancet. Neurology|September 10, 2013
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort studyMarka van Blitterswijk, Mariely DeJesus-Hernandez, Ellis Niemantsverdriet, et al.
Pageof 9