Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG

Open source

DOI
10.1038/ng.3256
Published
2015 May
Container
Nature genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/ng.3256,
  title = {Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.},
  author = {Akizu N and Cantagrel V and Zaki MS and Al-Gazali L and Wang X and Rosti RO and Dikoglu E and Gelot AB and Rosti B and Vaux KK and Scott EM and Silhavy JL and Schroth J and Copeland B and Schaffer AE and Gordts PL and Esko JD and Buschman MD and Field SJ and Napolitano G and Abdel-Salam GM and Ozgul RK and Sagıroglu MS and Azam M and Ismail S and Aglan M and Selim L and Mahmoud IG and Abdel-Hadi S and Badawy AE and Sadek AA and Mojahedi F and Kayserili H and Masri A and Bastaki L and Temtamy S and Müller U and Desguerre I and Casanova JL and Dursun A and Gunel M and Gabriel SB and de Lonlay P and Gleeson JG},
  year = {2015},
  journal = {Nature genetics},
  doi = {10.1038/ng.3256},
  url = {https://doi.org/10.1038/ng.3256}
}

RIS

TY  - JOUR
TI  - Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
AU  - Akizu N
AU  - Cantagrel V
AU  - Zaki MS
AU  - Al-Gazali L
AU  - Wang X
AU  - Rosti RO
AU  - Dikoglu E
AU  - Gelot AB
AU  - Rosti B
AU  - Vaux KK
AU  - Scott EM
AU  - Silhavy JL
AU  - Schroth J
AU  - Copeland B
AU  - Schaffer AE
AU  - Gordts PL
AU  - Esko JD
AU  - Buschman MD
AU  - Field SJ
AU  - Napolitano G
AU  - Abdel-Salam GM
AU  - Ozgul RK
AU  - Sagıroglu MS
AU  - Azam M
AU  - Ismail S
AU  - Aglan M
AU  - Selim L
AU  - Mahmoud IG
AU  - Abdel-Hadi S
AU  - Badawy AE
AU  - Sadek AA
AU  - Mojahedi F
AU  - Kayserili H
AU  - Masri A
AU  - Bastaki L
AU  - Temtamy S
AU  - Müller U
AU  - Desguerre I
AU  - Casanova JL
AU  - Dursun A
AU  - Gunel M
AU  - Gabriel SB
AU  - de Lonlay P
AU  - Gleeson JG
PY  - 2015
JO  - Nature genetics
DO  - 10.1038/ng.3256
UR  - https://doi.org/10.1038/ng.3256
ER  -

APA

N, A., V, C., MS, Z., L, A., X, W., RO, R., E, D., AB, G., B, R., KK, V., EM, S., JL, S., J, S., B, C., AE, S., PL, G., JD, E., MD, B., SJ, F., G, N., GM, A., RK, O., MS, S., M, A., S, I., M, A., L, S., IG, M., S, A., AE, B., AA, S., F, M., H, K., A, M., L, B., S, T., U, M., I, D., JL, C., A, D., M, G., SB, G., P, D. L., & JG, G. (2015). Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.. Nature genetics. https://doi.org/10.1038/ng.3256

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