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Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.
- Published in:
- Movement Disorders, 2010, v. 25, n. 11, p. 1605, doi. 10.1002/mds.23134
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- Publication type:
- Article
Developmental and benign movement disorders in childhood.
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- Movement Disorders, 2010, v. 25, n. 10, p. 1317, doi. 10.1002/mds.22944
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- Publication type:
- Article
Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients.
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- Movement Disorders, 2008, v. 23, n. 16, p. 2392, doi. 10.1002/mds.22313
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- Publication type:
- Article
Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.
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- Cells (2073-4409), 2023, v. 12, n. 13, p. 1807, doi. 10.3390/cells12131807
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- Publication type:
- Article
MeCP2 deficiency is associated with impaired microtubule stability
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- FEBS Letters, 2013, v. 587, n. 2, p. 245, doi. 10.1016/j.febslet.2012.11.033
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- Article
Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.
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- 2018
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- Publication type:
- journal article
Bilateral Frontoparietal Polymicrogyria.
- Published in:
- 2015
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- Publication type:
- Report
Recurrent KIF2A mutations are responsible for classic lissencephaly.
- Published in:
- Neurogenetics, 2017, v. 18, n. 2, p. 73, doi. 10.1007/s10048-016-0499-8
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- Publication type:
- Article
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
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- Neurogenetics, 2017, v. 18, n. 1, p. 23, doi. 10.1007/s10048-016-0498-9
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- Publication type:
- Article
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
- Published in:
- 2016
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- Publication type:
- Letter
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
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- Publication type:
- 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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- Publication type:
- Article
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
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- Neurogenetics, 2011, v. 12, n. 1, p. 1, doi. 10.1007/s10048-010-0255-4
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- Publication type:
- Article
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
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- Neurogenetics, 2010, v. 11, n. 2, p. 241, doi. 10.1007/s10048-009-0220-2
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- Publication type:
- Article
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.
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- Neurogenetics, 2009, v. 10, n. 2, p. 127, doi. 10.1007/s10048-008-0161-1
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- Publication type:
- Article
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
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- Neurogenetics, 2008, v. 9, n. 4, p. 277, doi. 10.1007/s10048-008-0141-5
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- Publication type:
- Article
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 52, doi. 10.1038/jhg.2010.143
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Altered microtubule dynamics in Mecp2-deficient astrocytes.
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- Journal of Neuroscience Research, 2012, v. 90, n. 5, p. 990, doi. 10.1002/jnr.23001
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- Publication type:
- Article
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
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- 2019
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- Publication type:
- journal article
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
- Published in:
- 2018
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- Publication type:
- journal article
Activation of the PI3K/AKT/mTOR Pathway in Cajal–Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5376, doi. 10.3390/ijms24065376
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- Publication type:
- Article
Effect of desipramine on patients with breathing disorders in RETT syndrome.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 118, doi. 10.1002/acn3.468
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- Publication type:
- Article
Analysis of the Phenotypes in the Rett Networked Database.
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- International Journal of Genomics, 2019, p. 1, doi. 10.1155/2019/6956934
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- Publication type:
- Article
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
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- Publication type:
- Article
The phenotype associated with a large deletion on MECP2.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 921, doi. 10.1038/ejhg.2012.34
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- Publication type:
- Article
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1378, doi. 10.1038/ejhg.2009.82
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- Publication type:
- Article
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174
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- Publication type:
- 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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- Publication type:
- Article
Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research.
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- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00434
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- Publication type:
- 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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- Publication type:
- Article
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.
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- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381
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- Publication type:
- Article
EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751
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- Publication type:
- Article
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
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- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2022.874695
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- Publication type:
- Article
MRI Findings in 77 Children with Non-Syndromic Autistic Disorder.
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- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004415
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- Publication type:
- Article
Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02745-y
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- Publication type:
- Article
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorder.
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- BMC Psychiatry, 2015, v. 15, p. 1, doi. 10.1186/s12888-015-0631-6
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- Publication type:
- Article
Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27705-7
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- Publication type:
- Article
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30443-z
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- Publication type:
- Article
Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27705-7
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- Publication type:
- Article
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
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- 2016
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- Publication type:
- journal article
The three stages of epilepsy in patients with CDKL5 mutations.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1027, doi. 10.1111/j.1528-1167.2007.01520.x
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- Publication type:
- Article
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
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- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
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- Publication type:
- Article
Early Pattern of Epilepsy in the Ring Chromosome 20 Syndrome.
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- Epilepsia (Series 4), 2006, v. 47, n. 3, p. 543, doi. 10.1111/j.1528-1167.2006.00465.x
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- Publication type:
- Article
Epilepsy in Menkes Disease: Analysis of Clinical Stages.
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- Epilepsia (Series 4), 2006, v. 47, n. 2, p. 380, doi. 10.1111/j.1528-1167.2006.00432.x
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- Publication type:
- Article
The Nonmalformed Hemisphere Is Secondarily Impaired in Young Children with Hemimegalencephaly: A Pre- and Postsurgery Study with SPECT and EEG.
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- Epilepsia (Series 4), 2004, v. 45, n. 11, p. 1375, doi. 10.1111/j.0013-9580.2004.66003.x
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- Publication type:
- Article
Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility.
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- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186941
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- Publication type:
- Article
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 98, doi. 10.1002/ajmg.a.33785
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- Publication type:
- Article
The ketogenic diet improves recently worsened focal epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2009, v. 51, n. 4, p. 276, doi. 10.1111/j.1469-8749.2008.03216.x
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- Publication type:
- Article