-
Marques, I, Sá, MJ, Soares, G, Mota, MDC, Pinheiro, C, Aguiar, L, Amado, M, Soares, C, Calado, A, Dias, P, et al.
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach..
Mol Genet Genomic Med
3(3)
:
203 -214
2015
view publication
-
Parikh, S, Bernard, G, Leventer, RJ, van der Knaap, MS, van Hove, J, Pizzino, A, McNeill, NH, Helman, G, Simons, C, Schmidt, JL, et al.
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies..
Mol Genet Metab
114(4)
:
501 -515
2015
view publication
-
Wolf, NI, Toro, C, Kister, I, Latif, KA, Leventer, R, Pizzino, A, Simons, C, Abbink, TEM, Taft, RJ, van der Knaap, MS, et al.
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder..
Neurology
84(3)
:
226 -230
2015
view publication
-
Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G, et al.
Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry..
PLoS One
10(8)
:
e0137370
2015
view publication
-
Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G, et al.
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry..
PLoS One
10(5)
:
e0127045
2015
view publication