Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

T. López-Hernández; M.C. Ridder; M. Montolio; X. Capdevila-Nortes; E. Polder; S. Sirisi; A. Duarri; U. Schulte; B. Fakler; V. Nunes; G.C. Scheper; A Martinez; R. Estevez; M.S. van der Knaap

doi:10.1016/j.ajhg.2011.02.009

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

T. López-Hernández, M.C. Ridder, M. Montolio, X. Capdevila-Nortes, E. Polder, S. Sirisi, A. Duarri, U. Schulte, B. Fakler, V. Nunes, G.C. Scheper, A Martinez, R. Estevez, M.S. van der Knaap

Pediatrics

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

Original language	Undefined/Unknown
Pages (from-to)	422-432
Journal	American journal of human genetics
Volume	88
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2011.02.009
Publication status	Published - 2011

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10.1016/j.ajhg.2011.02.009

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López-Hernández, T., Ridder, M. C., Montolio, M., Capdevila-Nortes, X., Polder, E., Sirisi, S., Duarri, A., Schulte, U., Fakler, B., Nunes, V., Scheper, G. C., Martinez, A., Estevez, R., & van der Knaap, M. S. (2011). Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism. American journal of human genetics, 88(4), 422-432. https://doi.org/10.1016/j.ajhg.2011.02.009

López-Hernández, T. ; Ridder, M.C. ; Montolio, M. ; Capdevila-Nortes, X. ; Polder, E. ; Sirisi, S. ; Duarri, A. ; Schulte, U. ; Fakler, B. ; Nunes, V. ; Scheper, G.C. ; Martinez, A ; Estevez, R. ; van der Knaap, M.S. / Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism. In: American journal of human genetics. 2011 ; Vol. 88, No. 4. pp. 422-432.

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author = "T. L{\'o}pez-Hern{\'a}ndez and M.C. Ridder and M. Montolio and X. Capdevila-Nortes and E. Polder and S. Sirisi and A. Duarri and U. Schulte and B. Fakler and V. Nunes and G.C. Scheper and A Martinez and R. Estevez and {van der Knaap}, M.S.",

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López-Hernández, T, Ridder, MC, Montolio, M, Capdevila-Nortes, X, Polder, E, Sirisi, S, Duarri, A, Schulte, U, Fakler, B, Nunes, V, Scheper, GC, Martinez, A, Estevez, R & van der Knaap, MS 2011, 'Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism', American journal of human genetics, vol. 88, no. 4, pp. 422-432. https://doi.org/10.1016/j.ajhg.2011.02.009

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism. / López-Hernández, T.; Ridder, M.C.; Montolio, M.; Capdevila-Nortes, X.; Polder, E.; Sirisi, S.; Duarri, A.; Schulte, U.; Fakler, B.; Nunes, V.; Scheper, G.C.; Martinez, A; Estevez, R.; van der Knaap, M.S.

In: American journal of human genetics, Vol. 88, No. 4, 2011, p. 422-432.

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

TY - JOUR

T1 - Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

AU - López-Hernández, T.

AU - Ridder, M.C.

AU - Montolio, M.

AU - Capdevila-Nortes, X.

AU - Polder, E.

AU - Sirisi, S.

AU - Duarri, A.

AU - Schulte, U.

AU - Fakler, B.

AU - Nunes, V.

AU - Scheper, G.C.

AU - Martinez, A

AU - Estevez, R.

AU - van der Knaap, M.S.

PY - 2011

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DO - 10.1016/j.ajhg.2011.02.009

M3 - Article

C2 - 21419380

VL - 88

SP - 422

EP - 432

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

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