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Mina Ryten

Showing results (121-130 of 176) with videos related to

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Annals of Human Genetics|January 31, 2013
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk LociPatrick Holton, Mina Ryten, Michael Nalls, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Nature Biotechnology|May 22, 2024
Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seqBernardo Aguzzoli Heberle, J Anthony Brandon, Madeline L Page, et al.
Plos One|August 23, 2013
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locusDaniah Trabzuni, Mina Ryten, Warren Emmett, et al.
Biorxiv : the Preprint Server for Biology|August 23, 2023
Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversityBernardo Aguzzoli Heberle, J Anthony Brandon, Madeline L Page, et al.
Neurobiology of Disease|March 16, 2023
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseasesZhongbo Chen, Regina H Reynolds, Antonio F Pardiñas, et al.
Journal of Medical Genetics|April 14, 2016
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditionsMaria Tropeano, Deirdre Howley, Matthew J Gazzellone, et al.
Science Translational Medicine|January 10, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduriaSonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau, et al.
Brain : a Journal of Neurology|September 8, 2022
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 lociMarc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, et al.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Pageof 18

Showing results (121-130 of 176) with videos related to

Sort By:
Pageof 18
Annals of Human Genetics|January 31, 2013
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk LociPatrick Holton, Mina Ryten, Michael Nalls, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Nature Biotechnology|May 22, 2024
Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seqBernardo Aguzzoli Heberle, J Anthony Brandon, Madeline L Page, et al.
Plos One|August 23, 2013
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locusDaniah Trabzuni, Mina Ryten, Warren Emmett, et al.
Biorxiv : the Preprint Server for Biology|August 23, 2023
Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversityBernardo Aguzzoli Heberle, J Anthony Brandon, Madeline L Page, et al.
Neurobiology of Disease|March 16, 2023
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseasesZhongbo Chen, Regina H Reynolds, Antonio F Pardiñas, et al.
Journal of Medical Genetics|April 14, 2016
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditionsMaria Tropeano, Deirdre Howley, Matthew J Gazzellone, et al.
Science Translational Medicine|January 10, 2024
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduriaSonam Gurung, Oskar Vilhelmsson Timmermand, Dany Perocheau, et al.
Brain : a Journal of Neurology|September 8, 2022
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 lociMarc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, et al.
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Pageof 18