Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ

Open source

DOI
10.1038/ng.3661
Published
2016 Oct
Container
Nature genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/ng.3661,
  title = {Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.},
  author = {Jenkinson EM and Rodero MP and Kasher PR and Uggenti C and Oojageer A and Goosey LC and Rose Y and Kershaw CJ and Urquhart JE and Williams SG and Bhaskar SS and O'Sullivan J and Baerlocher GM and Haubitz M and Aubert G and Barañano KW and Barnicoat AJ and Battini R and Berger A and Blair EM and Brunstrom-Hernandez JE and Buckard JA and Cassiman DM and Caumes R and Cordelli DM and De Waele LM and Fay AJ and Ferreira P and Fletcher NA and Fryer AE and Goel H and Hemingway CA and Henneke M and Hughes I and Jefferson RJ and Kumar R and Lagae L and Landrieu PG and Lourenço CM and Malpas TJ and Mehta SG and Metz I and Naidu S and Õunap K and Panzer A and Prabhakar P and Quaghebeur G and Schiffmann R and Sherr EH and Sinnathuray KR and Soh C and Stewart HS and Stone J and Van Esch H and Van Mol CE and Vanderver A and Wakeling EL and Whitney A and Pavitt GD and Griffiths-Jones S and Rice GI and Revy P and van der Knaap MS and Livingston JH and O'Keefe RT and Crow YJ},
  year = {2016},
  journal = {Nature genetics},
  doi = {10.1038/ng.3661},
  url = {https://doi.org/10.1038/ng.3661}
}

RIS

TY  - JOUR
TI  - Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
AU  - Jenkinson EM
AU  - Rodero MP
AU  - Kasher PR
AU  - Uggenti C
AU  - Oojageer A
AU  - Goosey LC
AU  - Rose Y
AU  - Kershaw CJ
AU  - Urquhart JE
AU  - Williams SG
AU  - Bhaskar SS
AU  - O'Sullivan J
AU  - Baerlocher GM
AU  - Haubitz M
AU  - Aubert G
AU  - Barañano KW
AU  - Barnicoat AJ
AU  - Battini R
AU  - Berger A
AU  - Blair EM
AU  - Brunstrom-Hernandez JE
AU  - Buckard JA
AU  - Cassiman DM
AU  - Caumes R
AU  - Cordelli DM
AU  - De Waele LM
AU  - Fay AJ
AU  - Ferreira P
AU  - Fletcher NA
AU  - Fryer AE
AU  - Goel H
AU  - Hemingway CA
AU  - Henneke M
AU  - Hughes I
AU  - Jefferson RJ
AU  - Kumar R
AU  - Lagae L
AU  - Landrieu PG
AU  - Lourenço CM
AU  - Malpas TJ
AU  - Mehta SG
AU  - Metz I
AU  - Naidu S
AU  - Õunap K
AU  - Panzer A
AU  - Prabhakar P
AU  - Quaghebeur G
AU  - Schiffmann R
AU  - Sherr EH
AU  - Sinnathuray KR
AU  - Soh C
AU  - Stewart HS
AU  - Stone J
AU  - Van Esch H
AU  - Van Mol CE
AU  - Vanderver A
AU  - Wakeling EL
AU  - Whitney A
AU  - Pavitt GD
AU  - Griffiths-Jones S
AU  - Rice GI
AU  - Revy P
AU  - van der Knaap MS
AU  - Livingston JH
AU  - O'Keefe RT
AU  - Crow YJ
PY  - 2016
JO  - Nature genetics
DO  - 10.1038/ng.3661
UR  - https://doi.org/10.1038/ng.3661
ER  -

APA

EM, J., MP, R., PR, K., C, U., A, O., LC, G., Y, R., CJ, K., JE, U., SG, W., SS, B., J, O., GM, B., M, H., G, A., KW, B., AJ, B., R, B., A, B., EM, B., JE, B., JA, B., DM, C., R, C., DM, C., LM, D. W., AJ, F., P, F., NA, F., AE, F., H, G., CA, H., M, H., I, H., RJ, J., R, K., L, L., PG, L., CM, L., TJ, M., SG, M., I, M., S, N., K, Õ., A, P., P, P., G, Q., R, S., EH, S., KR, S., C, S., HS, S., J, S., H, V. E., CE, V. M., A, V., EL, W., A, W., GD, P., S, G., GI, R., P, R., MS, V. D. K., JH, L., RT, O., & YJ, C. (2016). Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.. Nature genetics. https://doi.org/10.1038/ng.3661

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