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The Intellectual Disability Risk Gene Kdm5b Regulates Long-Term Memory Consolidation in the Hippocampus.
- Published in:
- Journal of Neuroscience, 2024, v. 44, n. 19, p. 1, doi. 10.1523/JNEUROSCI.1544-23.2024
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- Publication type:
- Article
O09 Targeted genetic therapy for congenital melanocytic naevi.
- Published in:
- British Journal of Dermatology, 2024, v. 190, p. i4, doi. 10.1093/bjd/ljad483.009
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- Publication type:
- Article
Presacral malakoplakia presenting as foot drop: a case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Genetic Insights from Consanguineous Cardiomyopathy Families.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 182, doi. 10.3390/genes14010182
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- Publication type:
- Article
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
- Published in:
- 2022
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- Publication type:
- journal article
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
- Published in:
- 2022
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- Publication type:
- journal article
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
- Published in:
- PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0274867
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- Publication type:
- Article
Impaired Pre‐Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1‐Linked Dyskinesia.
- Published in:
- Movement Disorders, 2021, v. 36, n. 5, p. 1158, doi. 10.1002/mds.28479
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- Publication type:
- Article
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
- Published in:
- 2021
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- Publication type:
- journal article
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
- Published in:
- Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1
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- Publication type:
- Article
Community‐based genetic study of Parkinson's disease in Estonia.
- Published in:
- Acta Neurologica Scandinavica, 2021, v. 143, n. 1, p. 89, doi. 10.1111/ane.13329
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- Publication type:
- Article
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1387
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- Publication type:
- Article
Genome-Wide Association Study Identifies Novel Colony Stimulating Factor 1 Locus Conferring Susceptibility to Cryptococcosis in Human Immunodeficiency Virus-Infected South Africans.
- Published in:
- Open Forum Infectious Diseases, 2020, v. 7, n. 11, p. 1, doi. 10.1093/ofid/ofaa489
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- Publication type:
- Article
Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.570424
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- Publication type:
- Article
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
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- Publication type:
- Article
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
- Published in:
- 2019
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- Publication type:
- journal article
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
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- Publication type:
- Article
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 11, p. 1416, doi. 10.1001/jamaneurol.2018.1885
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- Publication type:
- Article
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
- Published in:
- 2018
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- Publication type:
- journal article
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
- Published in:
- 2018
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- Publication type:
- journal article
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
- Published in:
- 2018
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- Publication type:
- journal article
<italic>GLS</italic> loss of function causes autosomal recessive spastic ataxia and optic atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 216, doi. 10.1002/acn3.522
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- Publication type:
- Article
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
- Published in:
- 2017
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- Publication type:
- journal article
DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0180467
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- Publication type:
- Article
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical and genetic characterization of leukoencephalopathies in adults.
- Published in:
- 2017
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- Publication type:
- journal article
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5483, doi. 10.1093/hmg/ddw348
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- Publication type:
- Article
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
- Published in:
- 2016
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- Publication type:
- journal article
CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
- Published in:
- 2016
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- Publication type:
- letter
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5326, doi. 10.1093/hmg/ddv255
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- Publication type:
- Article
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. e352, doi. 10.1093/brain/awu309
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- Publication type:
- Article
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- 2014
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- Publication type:
- journal article
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2480, doi. 10.1093/brain/awu179
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- Publication type:
- Article
A 6.4 Mb Duplication of the a-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism Phenotype-Genotype Correlations.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 9, p. 1162, doi. 10.1001/jamaneurol.2014.994
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- Publication type:
- Article
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 5, p. 664, doi. 10.1038/nn.3688
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- Publication type:
- Article
Genetic Analysis in Neurology.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 6, p. 696, doi. 10.1001/jamaneurol.2013.2068
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- Publication type:
- Article
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 4, p. 546, doi. 10.1002/ana.23832
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- Publication type:
- Article
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
- Published in:
- 2013
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- Publication type:
- journal 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
MLH1-93G > A is a risk factor for MSI colorectal cancer.
- Published in:
- Carcinogenesis, 2011, v. 32, n. 8, p. 1157, doi. 10.1093/carcin/bgr089
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- Publication type:
- Article
Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 14, p. 2879, doi. 10.1093/hmg/ddr190
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- Publication type:
- Article
Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002105
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- Publication type:
- Article
Evaluation of germline BMP4 mutation as a cause of colorectal cancer.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1928, doi. 10.1002/humu.21376
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- Publication type:
- Article
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 973, doi. 10.1038/ng.670
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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
Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 9, p. 1840, doi. 10.1093/hmg/ddq044
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- Publication type:
- Article
The CDH1-160C>A polymorphism is a risk factor for colorectal cancer.
- Published in:
- International Journal of Cancer, 2009, v. 125, n. 7, p. 1622, doi. 10.1002/ijc.24542
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- Publication type:
- Article
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 23, p. 3720
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- Publication type:
- Article
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1426, doi. 10.1038/ng.262
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- Publication type:
- Article
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia.
- Published in:
- Nature Genetics, 2008, v. 40, n. 10, p. 1204, doi. 10.1038/ng.219
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- Publication type:
- Article