Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

T. López-Hernández; S. Sirisi; X. Capdevila-Nortes; M. Montolio; V. Fernandez-Duenas; G.C. Scheper; M.S. van der Knaap; P. Casquero; F. Ciruela; I. Ferrer; V. Nunes; R. Estevez

doi:10.1093/hmg/ddr238

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

T. López-Hernández, S. Sirisi, X. Capdevila-Nortes, M. Montolio, V. Fernandez-Duenas, G.C. Scheper, M.S. van der Knaap, P. Casquero, F. Ciruela, I. Ferrer, V. Nunes, R. Estevez

Pediatric surgery

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	3266-3277
Journal	Human Molecular Genetics
Volume	20
Issue number	16
DOIs	https://doi.org/10.1093/hmg/ddr238
Publication status	Published - 2011

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10.1093/hmg/ddr238

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López-Hernández, T., Sirisi, S., Capdevila-Nortes, X., Montolio, M., Fernandez-Duenas, V., Scheper, G. C., van der Knaap, M. S., Casquero, P., Ciruela, F., Ferrer, I., Nunes, V., & Estevez, R. (2011). Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. Human Molecular Genetics, 20(16), 3266-3277. https://doi.org/10.1093/hmg/ddr238

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title = "Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts",

author = "T. L{\'o}pez-Hern{\'a}ndez and S. Sirisi and X. Capdevila-Nortes and M. Montolio and V. Fernandez-Duenas and G.C. Scheper and {van der Knaap}, M.S. and P. Casquero and F. Ciruela and I. Ferrer and V. Nunes and R. Estevez",

year = "2011",

doi = "10.1093/hmg/ddr238",

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López-Hernández, T, Sirisi, S, Capdevila-Nortes, X, Montolio, M, Fernandez-Duenas, V, Scheper, GC, van der Knaap, MS, Casquero, P, Ciruela, F, Ferrer, I, Nunes, V & Estevez, R 2011, 'Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts', Human Molecular Genetics, vol. 20, no. 16, pp. 3266-3277. https://doi.org/10.1093/hmg/ddr238

TY - JOUR

T1 - Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

AU - López-Hernández, T.

AU - Sirisi, S.

AU - Capdevila-Nortes, X.

AU - Montolio, M.

AU - Fernandez-Duenas, V.

AU - Scheper, G.C.

AU - van der Knaap, M.S.

AU - Casquero, P.

AU - Ciruela, F.

AU - Ferrer, I.

AU - Nunes, V.

AU - Estevez, R.

PY - 2011

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U2 - 10.1093/hmg/ddr238

DO - 10.1093/hmg/ddr238

M3 - Article

C2 - 21624973

VL - 20

SP - 3266

EP - 3277

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 16

ER -