Making sense of missense variants in TTN-related congenital myopathies.

Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M

Open source

DOI: 10.1007/s00401-020-02257-0
Published: 2021 Mar
Container: Acta neuropathologica
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1007/s00401-020-02257-0,
  title = {Making sense of missense variants in TTN-related congenital myopathies.},
  author = {Rees M and Nikoopour R and Fukuzawa A and Kho AL and Fernandez-Garcia MA and Wraige E and Bodi I and Deshpande C and Özdemir Ö and Daimagüler HS and Pfuhl M and Holt M and Brandmeier B and Grover S and Fluss J and Longman C and Farrugia ME and Matthews E and Hanna M and Muntoni F and Sarkozy A and Phadke R and Quinlivan R and Oates EC and Schröder R and Thiel C and Reimann J and Voermans N and Erasmus C and Kamsteeg EJ and Konersman C and Grosmann C and McKee S and Tirupathi S and Moore SA and Wilichowski E and Hobbiebrunken E and Dekomien G and Richard I and Van den Bergh P and Domínguez-González C and Cirak S and Ferreiro A and Jungbluth H and Gautel M},
  year = {2021},
  journal = {Acta neuropathologica},
  doi = {10.1007/s00401-020-02257-0},
  url = {https://doi.org/10.1007/s00401-020-02257-0}
}

RIS

TY  - JOUR
TI  - Making sense of missense variants in TTN-related congenital myopathies.
AU  - Rees M
AU  - Nikoopour R
AU  - Fukuzawa A
AU  - Kho AL
AU  - Fernandez-Garcia MA
AU  - Wraige E
AU  - Bodi I
AU  - Deshpande C
AU  - Özdemir Ö
AU  - Daimagüler HS
AU  - Pfuhl M
AU  - Holt M
AU  - Brandmeier B
AU  - Grover S
AU  - Fluss J
AU  - Longman C
AU  - Farrugia ME
AU  - Matthews E
AU  - Hanna M
AU  - Muntoni F
AU  - Sarkozy A
AU  - Phadke R
AU  - Quinlivan R
AU  - Oates EC
AU  - Schröder R
AU  - Thiel C
AU  - Reimann J
AU  - Voermans N
AU  - Erasmus C
AU  - Kamsteeg EJ
AU  - Konersman C
AU  - Grosmann C
AU  - McKee S
AU  - Tirupathi S
AU  - Moore SA
AU  - Wilichowski E
AU  - Hobbiebrunken E
AU  - Dekomien G
AU  - Richard I
AU  - Van den Bergh P
AU  - Domínguez-González C
AU  - Cirak S
AU  - Ferreiro A
AU  - Jungbluth H
AU  - Gautel M
PY  - 2021
JO  - Acta neuropathologica
DO  - 10.1007/s00401-020-02257-0
UR  - https://doi.org/10.1007/s00401-020-02257-0
ER  -

APA

M, R., R, N., A, F., AL, K., MA, F., E, W., I, B., C, D., Ö, Ö., HS, D., M, P., M, H., B, B., S, G., J, F., C, L., ME, F., E, M., M, H., F, M., A, S., R, P., R, Q., EC, O., R, S., C, T., J, R., N, V., C, E., EJ, K., C, K., C, G., S, M., S, T., SA, M., E, W., E, H., G, D., I, R., P, V. D. B., C, D., S, C., A, F., H, J., & M, G. (2021). Making sense of missense variants in TTN-related congenital myopathies.. Acta neuropathologica. https://doi.org/10.1007/s00401-020-02257-0

Source records

pubmed · retrieved 2026-09-26T23:38:15.142Z