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Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 10, p. 1298, doi. 10.1002/mdc3.14178
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- Publication type:
- Article
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
- Published in:
- 2020
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- Publication type:
- journal article
GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
- Published in:
- 2020
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- Publication type:
- Letter
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
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- 2019
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- Publication type:
- journal article
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
- Published in:
- 2017
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- Publication type:
- Letter
A glimpse of the genetics of young‐onset Parkinson's disease in Central Asia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1671
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- Publication type:
- Article
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22262-5
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- Publication type:
- Article
FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.
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- British Journal of Haematology, 2019, v. 186, n. 6, p. e163, doi. 10.1111/bjh.15979
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- Publication type:
- Article
ALZHEIMER’S DISEASE, PARKINSON’S DISEASE AND FRONTOTEMPORAL DEMENTIA: POLYGENICITY AND PLEIOTROPY.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P972, doi. 10.1016/j.jalz.2017.06.1310
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- Publication type:
- Article
Tau gene polymorphism influences risk of sporadic tauopathy by allele-specific changes in transcription and alternative splicing
- Published in:
- 2010
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- Publication type:
- Abstract
P2-175: Tau gene-specific natural antisense transcript expression and splicing in sporadic tauopathies
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- 2008
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- Publication type:
- Abstract
P2-174: Expression of three-repeat and four-repeat tau isoforms and mRNA levels in control and progressive supranuclear palsy brains
- Published in:
- 2008
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- Publication type:
- Abstract
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
- Published in:
- Nature Genetics, 2011, v. 43, n. 7, p. 699, doi. 10.1038/ng.859
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- Publication type:
- Article
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46354-0
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- Publication type:
- Article
The South Asian Genome.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0102645
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- Publication type:
- Article
Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated <i>LRRK2</i> Locus.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070724
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- Publication type:
- Article
Novel L284R MAPT Mutation in a Family with an Autosomal Dominant Progressive Supranuclear Palsy Syndrome.
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- Neurodegenerative Diseases, 2011, v. 8, n. 3, p. 149, doi. 10.1159/000319454
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- Publication type:
- Article
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2007, v. 99, n. 4, p. 291, doi. 10.1093/jnci/djk051
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- Publication type:
- Article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10910-w
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- Publication type:
- Article
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03014-8
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- Publication type:
- Article
An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.
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- BMC Systems Biology, 2017, v. 11, p. 1, doi. 10.1186/s12918-017-0420-6
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- Publication type:
- Article
Questions on NOTCH2NLC Repeat Expansions in Parkinson Disease.
- Published in:
- 2021
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- Publication type:
- Letter
Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?
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- Brain: A Journal of Neurology, 2011, v. 134, n. 5, p. 1493, doi. 10.1093/brain/awr031
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- Publication type:
- Article
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
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- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00723-0
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- Publication type:
- Article
POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation.
- Published in:
- 2024
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- Publication type:
- Case Study
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 1961, doi. 10.1002/acn3.51433
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- Publication type:
- Article
Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 1002, doi. 10.1002/acn3.51330
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- Publication type:
- Article
<italic>GLS</italic> loss of function causes autosomal recessive spastic ataxia and optic atrophy.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 216, doi. 10.1002/acn3.522
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- Publication type:
- Article
Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.
- Published in:
- Briefings in Bioinformatics, 2018, v. 19, n. 2, p. 286, doi. 10.1093/bib/bbw114
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- Publication type:
- Article
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1239725
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- Publication type:
- Article
Brain tau isoform mRNA and protein correlation in PSP brain.
- Published in:
- Translational Neuroscience, 2010, v. 1, n. 1, p. 30, doi. 10.2478/v10134-010-0009-8
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- Publication type:
- Article
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
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- 2021
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- Publication type:
- journal article
NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 3, p. 633, doi. 10.1002/ana.26003
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- Publication type:
- Article
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.
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- 2020
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- Publication type:
- Letter
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
- Published in:
- 2019
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- Publication type:
- journal article
Despite genetic isolation in sympatry, post-copulatory reproductive barriers have not evolved between bat- and human-associated common bedbugs (Cimex lectularius L.).
- Published in:
- Frontiers in Zoology, 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12983-023-00514-y
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- Publication type:
- Article
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 69, doi. 10.1002/mgg3.118
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- Publication type:
- Article
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
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- Publication type:
- Article
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
- Published in:
- Movement Disorders, 2021, v. 36, n. 1, p. 251, doi. 10.1002/mds.28302
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- Publication type:
- Article
Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12186
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- Publication type:
- Article
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
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- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1147-9
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- Publication type:
- Article
Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.
- Published in:
- Molecular Neurodegeneration, 2016, v. 11, p. 1, doi. 10.1186/s13024-016-0085-4
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- Publication type:
- Article
A loss‐of‐function homozygous mutation in <italic>DDX59</italic> implicates a conserved DEAD‐box RNA helicase in nervous system development and function.
- Published in:
- Human Mutation, 2018, v. 39, n. 2, p. 187, doi. 10.1002/humu.23368
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- Publication type:
- Article
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
- Published in:
- 2018
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- Publication type:
- journal article
Prevalence of familial cluster headache: a systematic review and meta-analysis.
- Published in:
- Journal of Headache & Pain, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s10194-020-01101-w
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- Publication type:
- Article
Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40324-0
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- Publication type:
- Article
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14483-x
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- Publication type:
- Article
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-70
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- Publication type:
- Article
Genome-wide linkage scan for colorectal cancer susceptibility genes supports linkage to chromosome 3q.
- Published in:
- BMC Cancer, 2008, v. 8, p. 1, doi. 10.1186/1471-2407-8-87
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- Publication type:
- Article