Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Shukla AAW, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K

Open source

DOI
10.1101/2024.12.02.24316741
Published
2024 Dec 5
Container
medRxiv : the preprint server for health sciences
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1101/2024.12.02.24316741,
  title = {Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.},
  author = {Thomsen M and Ott F and Loens S and Kilic-Berkmen G and Tan AH and Lim SY and Lohmann E and Schröder KM and Ipsen L and Nothacker LA and Welzel L and Rudnik AS and Hinrichs F and Odorfer T and Zeuner KE and Schumann F and Kühn AA and Zittel S and Moeller M and Pfister R and Kamm C and Lang AE and Tay YW and Vidailhet M and Roze E and Perlmutter JS and Feuerstein JS and Fung VSC and Chang F and Barbano RL and Bellows S and Shukla AAW and Espay AJ and LeDoux MS and Berman BD and Reich S and Deik A and Franke A and Wittig M and Franzenburg S and Volkmann J and Brüggemann N and Jinnah HA and Bäumer T and Klein C and Busch H and Lohmann K},
  year = {2024},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.1101/2024.12.02.24316741},
  url = {https://doi.org/10.1101/2024.12.02.24316741}
}

RIS

TY  - JOUR
TI  - Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
AU  - Thomsen M
AU  - Ott F
AU  - Loens S
AU  - Kilic-Berkmen G
AU  - Tan AH
AU  - Lim SY
AU  - Lohmann E
AU  - Schröder KM
AU  - Ipsen L
AU  - Nothacker LA
AU  - Welzel L
AU  - Rudnik AS
AU  - Hinrichs F
AU  - Odorfer T
AU  - Zeuner KE
AU  - Schumann F
AU  - Kühn AA
AU  - Zittel S
AU  - Moeller M
AU  - Pfister R
AU  - Kamm C
AU  - Lang AE
AU  - Tay YW
AU  - Vidailhet M
AU  - Roze E
AU  - Perlmutter JS
AU  - Feuerstein JS
AU  - Fung VSC
AU  - Chang F
AU  - Barbano RL
AU  - Bellows S
AU  - Shukla AAW
AU  - Espay AJ
AU  - LeDoux MS
AU  - Berman BD
AU  - Reich S
AU  - Deik A
AU  - Franke A
AU  - Wittig M
AU  - Franzenburg S
AU  - Volkmann J
AU  - Brüggemann N
AU  - Jinnah HA
AU  - Bäumer T
AU  - Klein C
AU  - Busch H
AU  - Lohmann K
PY  - 2024
JO  - medRxiv : the preprint server for health sciences
DO  - 10.1101/2024.12.02.24316741
UR  - https://doi.org/10.1101/2024.12.02.24316741
ER  - 

APA

M, T., F, O., S, L., G, K., AH, T., SY, L., E, L., KM, S., L, I., LA, N., L, W., AS, R., F, H., T, O., KE, Z., F, S., AA, K., S, Z., M, M., R, P., C, K., AE, L., YW, T., M, V., E, R., JS, P., JS, F., VSC, F., F, C., RL, B., S, B., AAW, S., AJ, E., MS, L., BD, B., S, R., A, D., A, F., M, W., S, F., J, V., N, B., HA, J., T, B., C, K., H, B., & K, L. (2024). Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.. medRxiv : the preprint server for health sciences. https://doi.org/10.1101/2024.12.02.24316741

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