Works matching DE "LISSENCEPHALY"
Results: 219
Lissencephaly: Clinical and neuroimaging features in children.
- Published in:
- Revista Mexicana de Neurociencia, 2021, v. 22, n. 4, p. 134, doi. 10.24875/RMN.20000132
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- Publication type:
- Article
A mechanical approach to explain cortical folding phenomena in healthy and diseased brains.
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- PAMM: Proceedings in Applied Mathematics & Mechanics, 2014, v. 14, n. 1, p. 101, doi. 10.1002/pamm.201410038
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- Publication type:
- Article
Development of fetal brain sulci and gyri: assessment through two and three-dimensional ultrasound and magnetic resonance imaging.
- Published in:
- 2011
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- Publication type:
- journal article
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.
- Published in:
- Acta Neuropathologica, 2010, v. 120, n. 4, p. 503, doi. 10.1007/s00401-010-0692-z
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- Publication type:
- Article
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
- Published in:
- 2010
- By:
- Publication type:
- Report
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).
- Published in:
- 2008
- By:
- Publication type:
- Report
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
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- Publication type:
- Article
X-linked Lissencephaly: a Smooth Brain and a Rough Journey for a 15- Year-Old-Patient.
- Published in:
- Medicina Moderna, 2018, v. 25, n. 3, p. 171, doi. 10.31689/rmm.2018.25.3.171
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- 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
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- Publication type:
- Article
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
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
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- Publication type:
- Article
Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
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
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- Publication type:
- Article
Postterm Newborn with Lissencephaly Presented with Seizure: Case Report and Review of Literature.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
You Have Brains in Your Head, You Have Organoids in Your Dish, You Can Steer Yourself in any Direction You Wish.
- Published in:
- Epilepsy Currents, 2017, v. 17, n. 5, p. 311, doi. 10.5698/1535-7597.17.5.311
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- Publication type:
- Article
LIS1 and DCX: Implications for Brain Development and Human Disease in Relation to Microtubules.
- Published in:
- Scientifica, 2013, p. 1, doi. 10.1155/2013/393975
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- Publication type:
- Article
Apples and Potatoes.
- Published in:
- Journal of Palliative Medicine, 2019, v. 22, n. 6, p. 730, doi. 10.1089/jpm.2018.0475
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- Publication type:
- Article
Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Singing the Blues: Is It Really Cyanosis?
- Published in:
- 2008
- By:
- Publication type:
- Case Study
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
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- 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
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- 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
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- Publication type:
- Article
A Case of Norman-Roberts Syndrome Identified from Postnatal Diagnosis of Microlissencephaly.
- Published in:
- Fetal & Pediatric Pathology, 2015, v. 34, n. 3, p. 197, doi. 10.3109/15513815.2015.1031414
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- Publication type:
- Article
A comparison of core depressive symptom improvement with anxiety symptom reduction for depressed patients treated with fluoxetine.
- Published in:
- Taiwanese Journal of Psychiatry, 2022, v. 36, n. 2, p. 97, doi. 10.4103/TPSY.TPSY_20_22
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- Publication type:
- Article
Depression and violent automatism in lissencephaly with epilepsy: A case report.
- Published in:
- Taiwanese Journal of Psychiatry, 2022, v. 36, n. 2, p. 95, doi. 10.4103/TPSY.TPSY_19_22
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- Publication type:
- Article
Clinical, Neuroradiological and Electroencephalographic Findings of Epileptic Patients with Malformation of Cortical Development.
- Published in:
- Epilepsi: Journal of the Turkish Epilepsi Society, 2019, v. 25, n. 2, p. 81, doi. 10.14744/epilepsi.2018.19484
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- Publication type:
- Article
DCX in PC12 cells: CREB-mediated transcription and neurite outgrowth.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 10, p. 1061, doi. 10.1093/hmg/10.10.1061
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- Publication type:
- Article
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3019
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- Publication type:
- Article
Interaction between LIS1 and doublecortin, two lissencephaly gene products.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2205, doi. 10.1093/oxfordjournals.hmg.a018911
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- Publication type:
- Article
Doublecortin mutations cluster in evolutionarily conserved functional domains.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 703, doi. 10.1093/hmg/9.5.703
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- Publication type:
- Article
Doublecortin, a stabilizer of microtubules.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 9, p. 1599, doi. 10.1093/hmg/8.9.1599
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- Publication type:
- Article
LIS1 and XLIS ( DCX ) mutations cause most classical lissencephaly, but different patterns of malformation.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 13
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- Publication type:
- Article
MRI as the modality of choice for diagnose congenital anomalies of the brain.
- Published in:
- Pedijatrija Danas: Pediatrics Today, 2007, v. 3, p. 32
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- Publication type:
- Article
Lissencephaly in an adult Australian Kelpie.
- Published in:
- Australian Veterinary Journal, 2016, v. 94, n. 4, p. 107, doi. 10.1111/avj.12423
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- Publication type:
- Article
In this issue - April 2016.
- Published in:
- 2016
- By:
- Publication type:
- Editorial
Disregulated RhoGTPases and Actin Cytoskeleton Contribute to the Migration Defect in Lis1-Deficient Neurons.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 25, p. 8673, doi. 10.1523/JNEUROSCI.23-25-08673.2003
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- Publication type:
- Article
A Newborn with Congenital Complete Atrioventricular Block, Lissencephaly, and Skeletal Abnormalities: A Case of Suspected Cytomegalovirus Infection.
- Published in:
- Congenital Heart Disease, 2010, v. 5, n. 5, p. 486, doi. 10.1111/j.1747-0803.2010.00390.x
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- Publication type:
- Article
Mutations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar disorder: a preliminary study.
- Published in:
- 2006
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- Publication type:
- Conference Paper/Materials
Loss of Microtubule-to-Actin Linkage Disrupts Cortical Development.
- Published in:
- PLoS Biology, 2011, v. 9, n. 10, p. 1, doi. 10.1371/journal.pbio.1001175
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- Publication type:
- Article
EXPERIENCING DIFFERENCES BETWEEN EUROPEAN AND AMERICAN END-OF-LIFE CARE: A DIFFICULT DISCONTINUATION OF LIFE SUPPORT.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Novel genetic tools facilitate the study of cortical neuron migration.
- Published in:
- Mammalian Genome, 2016, v. 27, n. 1/2, p. 8, doi. 10.1007/s00335-015-9615-6
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- Publication type:
- Article
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
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- 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
A 14-year-old girl with lissencephaly and craniofacial dysmorphism.
- Published in:
- Neuropathology, 2012, v. 32, n. 6, p. 675, doi. 10.1111/j.1440-1789.2012.01311.x
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- Publication type:
- Article
The Japanese Society of Neuropathology.
- Published in:
- Neuropathology, 2011, v. 31, n. 3, p. 309, doi. 10.1111/j.1440-1789.2010.01226.x
- Publication type:
- Article
An 11-month-old boy with intractable epilepsy from birth.
- Published in:
- 2009
- By:
- Publication type:
- Other
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker–Warburg syndrome.
- Published in:
- Neuropathology, 2008, v. 28, n. 3, p. 333, doi. 10.1111/j.1440-1789.2007.00856.x
- 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
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- Publication type:
- Article
EP02.04: Prenatal ultrasound diagnosis of lissencephaly in the second trimester of gestation.
- Published in:
- 2016
- By:
- Publication type:
- journal article