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Fine mapping of the HLA locus in Parkinson's disease in Europeans.
- Published in:
- NPJ Parkinson's Disease, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41531-021-00231-5
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- Publication type:
- Article
Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00813
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- Publication type:
- Article
Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder<sup>1</sup>.
- Published in:
- Genome, 2013, v. 56, n. 10, p. 634, doi. 10.1139/gen-2013-0081
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- Publication type:
- Article
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1859, doi. 10.1093/brain/awac413
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- Publication type:
- Article
Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.
- Published in:
- 2021
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- Publication type:
- journal article
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1052
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- Publication type:
- Article
Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 6, p. 335, doi. 10.1002/ajmg.b.32683
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- Publication type:
- Article
A survey of the methods for the characterization of microbial consortia and communities.
- Published in:
- Canadian Journal of Microbiology, 2005, v. 51, n. 5, p. 355, doi. 10.1139/w05-003
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- Publication type:
- Article
Increased exonic de novo mutation rate in individuals with schizophrenia.
- Published in:
- Nature Genetics, 2011, v. 43, n. 9, p. 860, doi. 10.1038/ng.886
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- Publication type:
- Article
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
- Published in:
- Nature Genetics, 2008, v. 40, n. 5, p. 572, doi. 10.1038/ng.132
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- Publication type:
- Article
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007285
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- Publication type:
- Article
Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0128255
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- Publication type:
- Article
Factors impacting the efficacy of the in-situ vaccine with CpG and OX40 agonist.
- Published in:
- Cancer Immunology, Immunotherapy, 2023, v. 72, n. 7, p. 2459, doi. 10.1007/s00262-023-03433-3
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- Publication type:
- Article
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
- Published in:
- EMBO Reports, 2014, v. 15, n. 7, p. 766, doi. 10.15252/embr.201438840
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- Publication type:
- Article
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
- Published in:
- Human Genetics, 2011, v. 130, n. 4, p. 563, doi. 10.1007/s00439-011-0975-z
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- Publication type:
- Article
Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12450-9
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- Publication type:
- Article
Generation of Novel Immunocompetent Mouse Cell Lines to Model Experimental Metastasis of High-Risk Neuroblastoma.
- Published in:
- Cancers, 2023, v. 15, n. 19, p. 4693, doi. 10.3390/cancers15194693
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- Publication type:
- Article
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
- Published in:
- Cancers, 2022, v. 14, n. 9, p. N.PAG, doi. 10.3390/cancers14092251
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- Publication type:
- Article
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 796, doi. 10.1038/ejhg.2011.271
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- Publication type:
- Article
Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study.
- Published in:
- BMC Medicine, 2022, v. 20, n. 1, p. 382, doi. 10.1186/s12916-022-02578-9
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- Publication type:
- Article
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
HLA in isolated REM sleep behavior disorder and Lewy body dementia.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1682, doi. 10.1002/acn3.51841
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- Publication type:
- Article
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
- Published in:
- 2020
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- Publication type:
- journal article
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 6, p. 748, doi. 10.1002/ana.21625
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- Publication type:
- Article
Whole exome sequencing identifies novel predisposing genes in neural tube defects.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.467
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- Publication type:
- Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1134, doi. 10.1002/mgg3.492
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- Publication type:
- Article
Association of Rare Variants in ARSA with Parkinson's Disease.
- Published in:
- Movement Disorders, 2023, v. 38, n. 10, p. 1806, doi. 10.1002/mds.29521
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- Publication type:
- Article
Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7.
- Published in:
- Movement Disorders, 2021, v. 36, n. 7, p. 1664, doi. 10.1002/mds.28528
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- Publication type:
- Article
Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.
- Published in:
- Movement Disorders, 2021, v. 36, n. 2, p. 514, doi. 10.1002/mds.28341
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- Publication type:
- Article
Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder.
- Published in:
- 2021
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- Publication type:
- journal article
Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease.
- Published in:
- Movement Disorders, 2021, v. 36, n. 1, p. 178, doi. 10.1002/mds.28299
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- Publication type:
- Article
Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.
- Published in:
- 2020
- By:
- Publication type:
- journal article
De Novo Mutations in Moderate or Severe Intellectual Disability.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004772
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- Publication type:
- Article
A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001318
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- Publication type:
- Article
Rare deleterious variants in GRHL3 are associated with human spina bifida.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 716, doi. 10.1002/humu.23214
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- Publication type:
- Article
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
- Published in:
- Frontiers in Oncology, 2023, v. 13, p. 1, doi. 10.3389/fonc.2023.1111191
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- Publication type:
- Article
A combined radio-immunotherapy regimen eradicates late-stage tumors in mice.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1419773
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- Publication type:
- Article
Oligogenicity, C9orf72 expansion, and variant severity in ALS.
- Published in:
- Neurogenetics, 2020, v. 21, n. 3, p. 227, doi. 10.1007/s10048-020-00612-7
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- Publication type:
- Article
Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 6, p. 4317, doi. 10.1007/s12035-018-1369-1
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- Publication type:
- Article
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00809-9
- By:
- Publication type:
- Article
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0183-0
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- Publication type:
- Article