Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

A. Duarri; O. Teijido; T. Lopez-Hernandez; G.C. Scheper; H. Barriere; P.K.I. Boor; F. Aguado; A. Zorzano; M. Palacin; A Martinez; G.L. Lukacs; M.S. van der Knaap; V. Nunes; R. Estevez

doi:10.1093/hmg/ddn269

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

A. Duarri, O. Teijido, T. Lopez-Hernandez, G.C. Scheper, H. Barriere, P.K.I. Boor, F. Aguado, A. Zorzano, M. Palacin, A Martinez, G.L. Lukacs, M.S. van der Knaap, V. Nunes, R. Estevez

Pediatrics

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

Original language	Undefined/Unknown
Pages (from-to)	3728-3739
Journal	Human Molecular Genetics
Volume	17
Issue number	23
DOIs	https://doi.org/10.1093/hmg/ddn269
Publication status	Published - 2008

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10.1093/hmg/ddn269

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Duarri, A., Teijido, O., Lopez-Hernandez, T., Scheper, G. C., Barriere, H., Boor, P. K. I., Aguado, F., Zorzano, A., Palacin, M., Martinez, A., Lukacs, G. L., van der Knaap, M. S., Nunes, V., & Estevez, R. (2008). Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Human Molecular Genetics, 17(23), 3728-3739. https://doi.org/10.1093/hmg/ddn269

Duarri, A. ; Teijido, O. ; Lopez-Hernandez, T. ; Scheper, G.C. ; Barriere, H. ; Boor, P.K.I. ; Aguado, F. ; Zorzano, A. ; Palacin, M. ; Martinez, A ; Lukacs, G.L. ; van der Knaap, M.S. ; Nunes, V. ; Estevez, R. / Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. In: Human Molecular Genetics. 2008 ; Vol. 17, No. 23. pp. 3728-3739.

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author = "A. Duarri and O. Teijido and T. Lopez-Hernandez and G.C. Scheper and H. Barriere and P.K.I. Boor and F. Aguado and A. Zorzano and M. Palacin and A Martinez and G.L. Lukacs and {van der Knaap}, M.S. and V. Nunes and R. Estevez",

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Duarri, A, Teijido, O, Lopez-Hernandez, T, Scheper, GC, Barriere, H, Boor, PKI, Aguado, F, Zorzano, A, Palacin, M, Martinez, A, Lukacs, GL, van der Knaap, MS, Nunes, V & Estevez, R 2008, 'Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects', Human Molecular Genetics, vol. 17, no. 23, pp. 3728-3739. https://doi.org/10.1093/hmg/ddn269

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. / Duarri, A.; Teijido, O.; Lopez-Hernandez, T.; Scheper, G.C.; Barriere, H.; Boor, P.K.I.; Aguado, F.; Zorzano, A.; Palacin, M.; Martinez, A; Lukacs, G.L.; van der Knaap, M.S.; Nunes, V.; Estevez, R.

In: Human Molecular Genetics, Vol. 17, No. 23, 2008, p. 3728-3739.

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

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T1 - Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

AU - Duarri, A.

AU - Teijido, O.

AU - Lopez-Hernandez, T.

AU - Scheper, G.C.

AU - Barriere, H.

AU - Boor, P.K.I.

AU - Aguado, F.

AU - Zorzano, A.

AU - Palacin, M.

AU - Martinez, A

AU - Lukacs, G.L.

AU - van der Knaap, M.S.

AU - Nunes, V.

AU - Estevez, R.

PY - 2008

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DO - 10.1093/hmg/ddn269

M3 - Article

C2 - 18757878

VL - 17

SP - 3728

EP - 3739

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

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