Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Published version

Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/328073

Repository DOI

https://doi.org/10.17863/CAM.75530

Files

Published version (222.3 KB)

Bibliographic metadata (130.19 KB)

Published version (53.3 KB)

Published version (843.02 KB)

Type

Authors

Schüle, Rebecca

Timmann, Dagmar

Erasmus, Corrie E

Reichbauer, Jennifer

Wayand, Melanie

Description

Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle Fund

Funder: University of Tübingen Medical Faculty PATE program

Funder: European Reference Network for Rare Neurological Diseases | 739510

Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 441409627

Keywords

Datasets as Topic, Genetic Testing, Genomics, Humans, Nervous System Diseases, Practice Guidelines as Topic, Rare Diseases, Exome Sequencing

Journal Title

Eur J Hum Genet

Journal ISSN

1018-4813
1476-5438

Volume Title

29

Publisher

Springer Science and Business Media LLC

Publisher DOI

https://doi.org/10.1038/s41431-021-00901-1

Rights and licensing

Attribution 4.0 International

Except where otherwised noted, this item's license is described as Attribution 4.0 International

Sponsorship

MRC (MR/N027302/2)
Addenbrooke's Charitable Trust (ACT) (64/17 A)
Wellcome Trust (109915/A/15/Z)
Ataxia UK (Unknown)
MRC (MR/V009346/1)
Medical Research Council (MR/N025431/2)

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