Works matching DE "LISSENCEPHALY"
Results: 221
Demonstration of different histological layers of the pachygyria/agyria cortex using diffusion tensor MR imaging.
- Published in:
- Surgical & Radiologic Anatomy, 2013, v. 35, n. 5, p. 427, doi. 10.1007/s00276-012-1050-8
- By:
- Publication type:
- Article
DTI tractography of lissencephaly caused by TUBA1A mutation.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Malformations of Cortical Development in Children with Congenital Cytomegalovirus Infection - A Study of Nine Children with Proven Congenital Cytomegalovirus Infection.
- Published in:
- Collegium Antropologicum, 2011, v. 35, p. 229
- By:
- Publication type:
- Article
Epilepsy Due to Malformations of Cortical Development - Correlation of Clinical, MRI and Tc-99mECD SPECT Findings.
- Published in:
- Collegium Antropologicum, 2008, v. 32, n. 2, p. 345
- By:
- Publication type:
- Article
EP03.12: A comparison between prenatal and postnatal radiologic findings of prenatally diagnosed lissencephaly cases.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 268, doi. 10.1002/uog.18350
- By:
- Publication type:
- Article
EP02.04: Prenatal ultrasound diagnosis of lissencephaly in the second trimester of gestation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern.
- Published in:
- 2016
- By:
- Publication type:
- journal article
P04.20: Prenatal diagnosis and postnatal outcome of severe microcephaly associated to isolated lissencephaly.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 206, doi. 10.1002/uog.14073
- By:
- Publication type:
- Article
P04.10: Miller-Dieker syndrome.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 204, doi. 10.1002/uog.14063
- By:
- Publication type:
- Article
Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport.
- Published in:
- Nature Cell Biology, 2000, v. 2, n. 11, p. 776, doi. 10.1038/35041011
- By:
- Publication type:
- Article
A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function.
- Published in:
- Nature Cell Biology, 2000, v. 2, n. 11, p. 784, doi. 10.1038/35041020
- By:
- Publication type:
- Article
A rough guide to a smooth brain.
- Published in:
- Nature Cell Biology, 2000, v. 2, n. 11, p. E201, doi. 10.1038/35041123
- By:
- Publication type:
- Article
Drosophila Lissencephaly-1 functions with Bic-D and dynein in oocyte determination and nuclear positioning.
- Published in:
- Nature Cell Biology, 1999, v. 1, n. 7, p. 444, doi. 10.1038/15680
- By:
- Publication type:
- Article
Singing the Blues: Is It Really Cyanosis?
- Published in:
- 2008
- By:
- Publication type:
- Case Study
MRI as the modality of choice for diagnose congenital anomalies of the brain.
- Published in:
- Pedijatrija Danas: Pediatrics Today, 2007, v. 3, p. 32
- By:
- Publication type:
- Article
Missense mutations resulting in type 1 lissencephaly.
- Published in:
- Cellular & Molecular Life Sciences, 2005, v. 62, n. 4, p. 425, doi. 10.1007/s00018-004-4344-0
- By:
- Publication type:
- Article
Neuronal Migration Dynamics in the Developing Ferret Cortex.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 42, p. 14307, doi. 10.1523/JNEUROSCI.2198-15.2015
- By:
- Publication type:
- Article
Reelin Prevents Apical Neurite Retraction during Terminal Translocation and Dendrite Initiation.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 30, p. 10659, doi. 10.1523/JNEUROSCI.1629-15.2015
- By:
- Publication type:
- Article
DBZ Regulates Cortical Cell Positioning and Neurite Development by Sustaining the Anterograde Transport of Lis1 and DISC1 through Control of Ndel1 Dual-Phosphorylation.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 7, p. 2942, doi. 10.1523/JNEUROSCI.5029-13.2015
- By:
- Publication type:
- Article
Doublecortin (Dcx) Family Proteins Regulate Filamentous Actin Structure in Developing Neurons.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 2, p. 709, doi. 10.1523/JNEUROSCI.4603-12.2013
- By:
- Publication type:
- Article
LISI Deficiency Promotes Dysfunctional Synaptic Integration of Granule Cells Generated in the Developing and Adult Dentate Gyrus.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 37, p. 12862, doi. 10.1523/JNEUROSCI.1286-12.2012
- By:
- Publication type:
- Article
Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP family members.
- Published in:
- EMBO Journal, 2004, v. 23, n. 20, p. 4106, doi. 10.1038/sj.emboj.7600390
- By:
- Publication type:
- Article
DCX, a new mediator of the JNK pathway.
- Published in:
- EMBO Journal, 2004, v. 23, n. 4, p. 823, doi. 10.1038/sj.emboj.7600079
- By:
- Publication type:
- Article
Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.
- Published in:
- EMBO Journal, 1997, v. 16, n. 23, p. 6977, doi. 10.1093/emboj/16.23.6977
- By:
- Publication type:
- Article
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 6, p. 473, doi. 10.1111/j.1469-8749.2008.02058.x
- By:
- Publication type:
- Article
Symposium 13: Microtubule motor protein in the brain from structure to function.
- Published in:
- 2001
- Publication type:
- Abstract
Isoform-dependent effects of apoE on doublecortin-positive cells and microtubule-associated protein 2 immunoreactivity following <sup>137</sup>Cs irradiation.
- Published in:
- Radiation & Environmental Biophysics, 2010, v. 49, n. 3, p. 421, doi. 10.1007/s00411-010-0290-4
- By:
- Publication type:
- Article
A MODEL OF THE FORMATION OF THE CEREBRAL CORTEX THROUGH A MIXED APPROACH OF REACTION DIFFUSION EQUATIONS AND MECHANICAL STRAIN.
- Published in:
- Journal of Mechanics in Medicine & Biology, 2012, v. 12, n. 5, p. -1, doi. 10.1142/S021951941250090X
- By:
- Publication type:
- Article
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
- Published in:
- Nature, 2010, v. 467, n. 7312, p. 207, doi. 10.1038/nature09327
- By:
- Publication type:
- Article
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
- Published in:
- Human Genetics, 2015, v. 134, n. 3, p. 305, doi. 10.1007/s00439-014-1522-5
- By:
- Publication type:
- Article
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
- Published in:
- 2015
- By:
- Publication type:
- Erratum
Lissencephaly-1 promotes the recruitment of dynein and dynactin to transported mRNAs.
- Published in:
- Journal of Cell Biology, 2013, v. 202, n. 3, p. 479, doi. 10.1083/jcb.201211052
- By:
- Publication type:
- Article
Visual Impairment Due to Lissencephaly.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Hind Brain Agenesis A Rare Imaging Findings In Cerebro Cerebellar Lissencephalic Syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Miller Dieker Syndrome as a Cause of Refractory Seizures.
- Published in:
- Journal of Nepal Paediatric Society, 2014, v. 34, n. 2, p. 154, doi. 10.3126/jnps.v34i2.9408
- By:
- Publication type:
- Article
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.
- Published in:
- Frontiers in Cellular Neuroscience, 2015, p. 1, doi. 10.3389/fnins.2015.00181
- By:
- Publication type:
- Article
Enhanced expression of Pafah1b1 causes over-migration of cerebral cortical neurons into the marginal zone.
- Published in:
- Brain Structure & Function, 2017, v. 222, n. 9, p. 4283, doi. 10.1007/s00429-017-1497-9
- By:
- Publication type:
- Article
From genes to folds: a review of cortical gyrification theory.
- Published in:
- Brain Structure & Function, 2015, v. 220, n. 5, p. 2475, doi. 10.1007/s00429-014-0961-z
- By:
- Publication type:
- Article
Neuronal Migration Disorders.
- Published in:
- Radiologic Technology, 2018, v. 89, n. 3, p. 279
- By:
- Publication type:
- Article
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 2, p. 198, doi. 10.4103/aian.AIAN_18_20
- By:
- Publication type:
- Article
Lis1 is required for the expansion of hematopoietic stem cells in the fetal liver.
- Published in:
- Cell Research, 2014, v. 24, n. 8, p. 1013, doi. 10.1038/cr.2014.69
- By:
- Publication type:
- Article
Prenatal diagnosis of lissencephaly: A case report.
- Published in:
- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2016, v. 73, n. 1, p. 77, doi. 10.2298/VSP140806010C
- By:
- Publication type:
- Article
Clinical and Molecular Characterization of a Combined 17p13.3 Microdeletion with Partial Monosomy 21q21.3 in a 26-Year-Old Man.
- Published in:
- Cytogenetic & Genome Research, 2011, v. 135, n. 2, p. 102, doi. 10.1159/000330880
- By:
- Publication type:
- Article
A mechanical approach to explain cortical folding phenomena in healthy and diseased brains.
- Published in:
- PAMM: Proceedings in Applied Mathematics & Mechanics, 2014, v. 14, n. 1, p. 101, doi. 10.1002/pamm.201410038
- By:
- Publication type:
- Article
Lissencephaly-1 mutations enhance traumatic brain injury outcomes in Drosophila.
- Published in:
- Genetics, 2023, v. 223, n. 3, p. 1, doi. 10.1093/genetics/iyad008
- By:
- Publication type:
- Article
Type I platelet-activating factor acetylhydrolase catalytic subunits over-expression induces pleiomorphic nuclei and centrosome amplification.
- Published in:
- Genes to Cells, 2007, v. 12, n. 10, p. 1153, doi. 10.1111/j.1365-2443.2007.01126.x
- By:
- Publication type:
- Article
Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 7, p. 393, doi. 10.1007/s10038-003-0033-3
- By:
- Publication type:
- Article
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 7, p. 923, doi. 10.1038/nn.3729
- By:
- Publication type:
- Article
Postnatal Gene Therapy Improves Spatial Learning Despite the Presence of Neuronal Ectopia in a Model of Neuronal Migration Disorder.
- Published in:
- Genes, 2016, v. 7, n. 12, p. 105, doi. 10.3390/genes7120105
- By:
- Publication type:
- Article