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Alternative Transcripts of Dclk1 and Dclk2 and Their Expression in Doublecortin Knockout Mice.
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- Developmental Neuroscience, 2008, v. 30, n. 1-3, p. 171, doi. 10.1159/000109861
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- Article
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
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- Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
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- Article
Mosaic DCX deletion causes subcortical band heterotopia in males.
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- Neurogenetics, 2012, v. 13, n. 4, p. 367, doi. 10.1007/s10048-012-0339-4
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- Article
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
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- Neurogenetics, 2010, v. 11, n. 2, p. 251, doi. 10.1007/s10048-009-0224-y
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- Article
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
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- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1516, doi. 10.1093/hmg/ddt538
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- Article
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
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- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4462, doi. 10.1093/hmg/ddq377
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- Article
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
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- Human Molecular Genetics, 2009, v. 18, n. 20, p. 3779, doi. 10.1093/hmg/ddp320
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- Article
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.
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- Human Molecular Genetics, 2006, v. 15, n. 13, p. 2183, doi. 10.1093/hmg/ddl139
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- Article
Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.
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- Human Molecular Genetics, 2006, v. 15, n. 9, p. 1387, doi. 10.1093/hmg/ddl062
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- Article
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 977, doi. 10.1038/ejhg.2012.279
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- Article
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 381, doi. 10.1038/ejhg.2012.195
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- Article
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
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- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1358, doi. 10.1038/ejhg.2008.103
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- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
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- Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
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- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
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- Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
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- Article
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
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- Nature Genetics, 2009, v. 41, n. 6, p. 746, doi. 10.1038/ng.380
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- Article
The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity.
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- Journal of Neuroscience, 2017, v. 37, n. 28, p. 6606, doi. 10.1523/JNEUROSCI.3775-16.2017
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- Article
The intellectual disability protein Oligophrenin‐1 controls astrocyte morphology and migration.
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- Glia, 2020, v. 68, n. 9, p. 1729, doi. 10.1002/glia.23801
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- Article
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
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- Human Mutation, 2008, v. 29, n. 9, p. 1083, doi. 10.1002/humu.20829
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- Article
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A).
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- Human Mutation, 2007, v. 28, n. 11, p. 1055, doi. 10.1002/humu.20572
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- Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
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- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
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- Article
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
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- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1676, doi. 10.1093/brain/awu082
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- Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. e199, doi. 10.1093/brain/awr108
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- Article
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 9, p. 2304, doi. 10.1093/brain/awn155
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- Article
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.
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- Human Molecular Genetics, 2018, v. 27, n. 2, p. 224, doi. 10.1093/hmg/ddx384
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- Article
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.
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- Human Molecular Genetics, 2016, v. 25, n. 1, p. 146, doi. 10.1093/hmg/ddv464
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- Article