Clinical, histological, and genetic characterization of PYROXD1-related myopathy.

Lornage X, Schartner V, Balbueno I, Biancalana V, Willis T, Echaniz-Laguna A, Scheidecker S, Quinlivan R, Fardeau M, Malfatti E, Lannes B, Sewry C, Romero NB, Laporte J, Böhm J

Open source

DOI: 10.1186/s40478-019-0781-8
Published: 2019 Aug 27
Container: Acta neuropathologica communications
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1186/s40478-019-0781-8,
  title = {Clinical, histological, and genetic characterization of PYROXD1-related myopathy.},
  author = {Lornage X and Schartner V and Balbueno I and Biancalana V and Willis T and Echaniz-Laguna A and Scheidecker S and Quinlivan R and Fardeau M and Malfatti E and Lannes B and Sewry C and Romero NB and Laporte J and Böhm J},
  year = {2019},
  journal = {Acta neuropathologica communications},
  doi = {10.1186/s40478-019-0781-8},
  url = {https://doi.org/10.1186/s40478-019-0781-8}
}

RIS

TY  - JOUR
TI  - Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
AU  - Lornage X
AU  - Schartner V
AU  - Balbueno I
AU  - Biancalana V
AU  - Willis T
AU  - Echaniz-Laguna A
AU  - Scheidecker S
AU  - Quinlivan R
AU  - Fardeau M
AU  - Malfatti E
AU  - Lannes B
AU  - Sewry C
AU  - Romero NB
AU  - Laporte J
AU  - Böhm J
PY  - 2019
JO  - Acta neuropathologica communications
DO  - 10.1186/s40478-019-0781-8
UR  - https://doi.org/10.1186/s40478-019-0781-8
ER  -

APA

X, L., V, S., I, B., V, B., T, W., A, E., S, S., R, Q., M, F., E, M., B, L., C, S., NB, R., J, L., & J, B. (2019). Clinical, histological, and genetic characterization of PYROXD1-related myopathy.. Acta neuropathologica communications. https://doi.org/10.1186/s40478-019-0781-8

Source records

pubmed · retrieved 2026-09-27T06:43:43.534Z