Found: 40
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FGF12 copy number variant associated with epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
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- Publication type:
- Article
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
- Published in:
- Cell Death & Disease, 2024, v. 15, n. 5, p. 1, doi. 10.1038/s41419-024-06768-6
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- Publication type:
- Article
Nuclease-free precise genome editing corrects MECP2 mutations associated with Rett syndrome.
- Published in:
- Frontiers in Genome Editing, 2024, p. 1, doi. 10.3389/fgeed.2024.1346781
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- Publication type:
- Article
Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 607, doi. 10.1111/cge.14408
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- Publication type:
- Article
GABRG2 Variants Associated with Febrile Seizures.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 414, doi. 10.3390/biom13030414
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- Publication type:
- Article
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248
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- Publication type:
- Article
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.81032
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- Publication type:
- Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114
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- Publication type:
- Article
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 1, p. 138, doi. 10.1002/ana.26359
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- Publication type:
- Article
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1857
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- Publication type:
- Article
Improved methods for RNAseq-based alternative splicing analysis.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89938-2
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- Publication type:
- Article
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17105-8
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- Publication type:
- Article
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015
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- Publication type:
- Article
Primrose syndrome: Characterization of the phenotype in 42 patients.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 890, doi. 10.1111/cge.13749
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- Publication type:
- Article
Front Cover, Volume 41, Issue 2.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. i, doi. 10.1002/humu.23982
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- Publication type:
- Article
Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 412, doi. 10.1002/humu.23939
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- Publication type:
- Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
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- Publication type:
- Article
Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 183, doi. 10.1111/cge.13580
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- Publication type:
- Article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2623, doi. 10.1002/ajmg.a.40493
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- Publication type:
- Article
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2259, doi. 10.1002/ajmg.a.40472
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- Publication type:
- Article
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia.
- Published in:
- 2016
- By:
- Publication type:
- case study
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131797
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- Publication type:
- Article
Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113036
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- Publication type:
- Article
Electrophysiological Phenotypes of Me CP2 A140V Mutant Mouse Model.
- Published in:
- CNS Neuroscience & Therapeutics, 2014, v. 20, n. 5, p. 420, doi. 10.1111/cns.12229
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- Publication type:
- Article
Skewed Allele-Specific Expression of the NF1 Gene in Normal Subjects: A Possible Mechanism for Phenotypic Variability in Neurofibromatosis Type 1.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 6, p. 695, doi. 10.1177/0883073811423439
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- Publication type:
- Article
Isoform-Specific Toxicity of Mecp2 in Postmitotic Neurons: Suppression of Neurotoxicity by FoxG1.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 8, p. 2846, doi. 10.1523/JNEUROSCI.5841-11.2012
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- Publication type:
- Article
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Compound Heterozygotes for Nonsense Mutations of the SACS Gene.
- Published in:
- 2011
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- Publication type:
- Case Study
Evidence for population variation in TSC1 and TSC2 gene expression.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 29, doi. 10.1186/1471-2350-12-29
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- Publication type:
- Article
Angelman Syndrome (Clinics in Developmental Medicine No. 177).
- Published in:
- 2010
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- Publication type:
- Book Review
Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation.
- Published in:
- BMC Neuroscience, 2010, v. 11, p. 19, doi. 10.1186/1471-2202-11-19
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- Publication type:
- Article
A Novel Mutation of the ARX Gene in a Male With Nonsyndromic Mental Retardation.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 6, p. 744, doi. 10.1177/0883073807304000
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- Publication type:
- Article
Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex.
- Published in:
- BMC Neuroscience, 2006, v. 7, p. 1, doi. 10.1186/1471-2202-7-22
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- Publication type:
- Article
Expression of a synapse-associated membrane protein, P84/SHPS-1, and its ligand, IAP/CD47, in mouse retina.
- Published in:
- Journal of Comparative Neurology, 2000, v. 416, n. 3, p. 335, doi. 10.1002/(SICI)1096-9861(20000117)416:3<335::AID-CNE5>3.0.CO;2-X
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- Publication type:
- Article
Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene Kv1.1.
- Published in:
- Annals of Neurology, 1996, v. 40, n. 4, p. 684, doi. 10.1002/ana.410400422
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- Publication type:
- Article
Expression of members of the proteolipid protein gene family in the developing murine central nervous system.
- Published in:
- Journal of Comparative Neurology, 1996, v. 370, n. 4, p. 465, doi. 10.1002/(SICI)1096-9861(19960708)370:4<465::AID-CNE4>3.0.CO;2-2
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- Publication type:
- Article
Congenital Fumarase Deficiency Presenting With Hypotonia and Areflexia.
- Published in:
- Journal of Child Neurology, 1996, v. 11, n. 3, p. 252, doi. 10.1177/088307389601100321
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- Publication type:
- Article
Partial Structure and Mapping of the Human Myelin P<sub>2</sub> Protein Gene.
- Published in:
- Journal of Neurochemistry, 1994, v. 63, n. 6, p. 2010, doi. 10.1046/j.1471-4159.1994.63062010.x
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- Publication type:
- Article
Structure of the Mouse Myelin P<sub>2</sub> Protein Gene.
- Published in:
- Journal of Neurochemistry, 1991, v. 57, n. 1, p. 75, doi. 10.1111/j.1471-4159.1991.tb02101.x
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- Publication type:
- Article