Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

Pagnamenta AT, Heemeryck P, Martin HC, Bosc C, Peris L, Uszynski I, Gory-Fauré S, Couly S, Deshpande C, Siddiqui A, Elmonairy AA, WGS500 Consortium, Genomics England Research Consortium, Jayawant S, Murthy S, Walker I, Loong L, Bauer P, Vossier F, Denarier E, Maurice T, Barbier EL, Deloulme JC, Taylor JC, Blair EM, Andrieux A, Moutin MJ

Open source

DOI
10.1093/hmg/ddz186
Published
2019 Oct 15
Container
Human molecular genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1093/hmg/ddz186,
  title = {Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.},
  author = {Pagnamenta AT and Heemeryck P and Martin HC and Bosc C and Peris L and Uszynski I and Gory-Fauré S and Couly S and Deshpande C and Siddiqui A and Elmonairy AA and WGS500 Consortium and Genomics England Research Consortium and Jayawant S and Murthy S and Walker I and Loong L and Bauer P and Vossier F and Denarier E and Maurice T and Barbier EL and Deloulme JC and Taylor JC and Blair EM and Andrieux A and Moutin MJ},
  year = {2019},
  journal = {Human molecular genetics},
  doi = {10.1093/hmg/ddz186},
  url = {https://doi.org/10.1093/hmg/ddz186}
}

RIS

TY  - JOUR
TI  - Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
AU  - Pagnamenta AT
AU  - Heemeryck P
AU  - Martin HC
AU  - Bosc C
AU  - Peris L
AU  - Uszynski I
AU  - Gory-Fauré S
AU  - Couly S
AU  - Deshpande C
AU  - Siddiqui A
AU  - Elmonairy AA
AU  - WGS500 Consortium
AU  - Genomics England Research Consortium
AU  - Jayawant S
AU  - Murthy S
AU  - Walker I
AU  - Loong L
AU  - Bauer P
AU  - Vossier F
AU  - Denarier E
AU  - Maurice T
AU  - Barbier EL
AU  - Deloulme JC
AU  - Taylor JC
AU  - Blair EM
AU  - Andrieux A
AU  - Moutin MJ
PY  - 2019
JO  - Human molecular genetics
DO  - 10.1093/hmg/ddz186
UR  - https://doi.org/10.1093/hmg/ddz186
ER  - 

APA

AT, P., P, H., HC, M., C, B., L, P., I, U., S, G., S, C., C, D., A, S., AA, E., Consortium, W., Consortium, G. E. R., S, J., S, M., I, W., L, L., P, B., F, V., E, D., T, M., EL, B., JC, D., JC, T., EM, B., A, A., & MJ, M. (2019). Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.. Human molecular genetics. https://doi.org/10.1093/hmg/ddz186

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