E-LIB Suche - Ergebnisse für: Project Mine Als Sequencing Consortium, Mine Als Sequencing Consortium

1

Mutations in the tail and rod domains of the neurofilament ..:

Marriott, Heather ; Spargo, Thomas P. ; Al Khleifat, Ahmad...
Annals of Clinical and Translational Neurology. 11 (2024) 7 - p. 1775-1786 , 2024

Link: https://doi.org/10.1002/..

2

Systematic rare variant analyses identify RAB32 as a suscep..:

Hop, Paul J. ; Lai, Dongbing ; Keagle, Pamela J....
Nature Genetics. 56 (2024) 7 - p. 1371-1376 , 2024

Link: https://doi.org/10.1038/..

3

Unsupervised machine learning identifies distinct ALS molec..:

Marriott, Heather ; Kabiljo, Renata ; Hunt, Guy P...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

4

SOD1-ALS-Browser: a web-utility for investigating the clini..:

Spargo, Thomas P ; Opie-Martin, Sarah ; Hunt, Guy P...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24 (2023) 7-8 - p. 736-745 , 2023

Link: https://doi.org/10.1080/..

5

Project MinE: study design and pilot analyses of a large-sc..:

Project MinE ALS Sequencing Consortium
European Journal of Human Genetics. 26 (2018) 10 - p. 1537-1546 , 2018

Link: https://doi.org/10.1038/..

6

CHCHD10 variants in amyotrophic lateral sclerosis: Where is..:

Project MinE ALS Sequencing Consortium
Annals of Neurology. 84 (2018) 1 - p. 110-116 , 2018

Link: https://doi.org/10.1002/..

7

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Re..:

Cooper-Knock, Johnathan ; Robins, Henry ; Niedermoser, Isabell...
Frontiers in Molecular Neuroscience. 10 (2017) - p. , 2017

Link: https://doi.org/10.3389/..

8

The project MinE databrowser: bringing large-scale whole-ge..:

van der Spek, Rick A.A. ; van Rheenen, Wouter ; Pulit, Sara L....
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20 (2019) 5-6 - p. 432-440 , 2019

Link: https://doi.org/10.1080/..

9

Integrative genetic analysis illuminates ALS heritability a..:

Salim Megat ; Natalia Mora ; Jason Sanogo...
https://doi.org/10.1038/s41467-022-35724-1. , 2023

Link: https://doi.org/10.1038/..

10

Author Correction: Integrative genetic analysis illuminates..:

Salim Megat ; Natalia Mora ; Jason Sanogo...
https://doi.org/10.1038/s41467-023-43710-4. , 2023

Link: https://doi.org/10.1038/..

11

Unexpected frequency of the pathogenic AR CAG repeat expans..:

Zanovello, Matteo ; Ibáñez, Kristina ; Brown, Anna-Leigh...
https://discovery.ucl.ac.uk/id/eprint/10165321/7/Zanovello_awad050.pdf. , 2023

Link: https://discovery.ucl.ac..

12

Unsupervised machine learning identifies distinct ALS molec..:

Heather Marriott ; Renata Kabiljo ; Guy P Hunt...
https://doi.org/10.1186/s40478-023-01686-8. , 2023

Link: https://doi.org/10.1186/..

13

Targeted genetic screen in Amyotrophic lateral sclerosis re..:

Cooper-Knock, Johnathan ; Robins, Henry ; Niedermoser, Isabell...
https://www.frontiersin.org/journals/molecular-neuroscience#. , 2022

Link: http://hdl.handle.net/10..

14

Genome-wide identification of the genetic basis of amyotrop..:

Zhang, S ; Cooper-Knock, J ; Weimer, A.K...
https://eprints.whiterose.ac.uk/182974/1/PIIS0896627321010369.pdf. , 2022

Link: https://eprints.whiteros..

15

Genome-wide identification of the genetic basis of amyotrop..:

Zhang, Sai ; Cooper-Knock, Johnathan ; Weimer, Annika K...
Zhang, S., Cooper-Knock, J., Weimer, A. K., Shi, M., Moll, T., Marshall, J. N., . & Snyder, M. P. (2022). Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. Neuron, 110(6), 992-1008.. , 2022

Link: https://www.um.edu.mt/li..