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Do variants in the coding regions of FOXP2, a gene implicated in speech disorder, confer a risk for congenital amusia?
- Published in:
- Annals of the New York Academy of Sciences, 2022, v. 1517, n. 1, p. 279, doi. 10.1111/nyas.14883
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- Publication type:
- Article
Case-Control and Family-Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 5, p. 460, doi. 10.1002/mdc3.12306
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- Publication type:
- Article
A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 8, p. 942
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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
MEIS1 and Restless Legs Syndrome: A Comprehensive Review.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00935
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- Publication type:
- Article
Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data.
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- BMC Research Notes, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13104-020-4936-2
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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
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
- Published in:
- 2020
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- Publication type:
- Letter
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
- Published in:
- 2008
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- Publication type:
- journal article
Chemical composition and 13C NMR spectroscopic characterisation of ulvans from Ulva (Ulvales, Chlorophyta).
- Published in:
- Journal of Applied Phycology, 1999, v. 11, n. 1, p. 1, doi. 10.1023/A:1008063600071
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- Publication type:
- Article
Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette's syndrome.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03231-0
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- Publication type:
- Article
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
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- Cerebellum, 2022, v. 21, n. 1, p. 49, doi. 10.1007/s12311-021-01268-1
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- Publication type:
- Article
Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.
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- Cerebellum, 2019, v. 18, n. 4, p. 731, doi. 10.1007/s12311-019-01033-5
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- Publication type:
- Article
CLONAL PROPAGATION OF LAMINARIA DIGITATA (PHAEOPHYCEAE) SPOROPHYTES THROUGH A DIPLOID CELL-FILAMENT SUSPENSION.
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- Journal of Phycology, 2001, v. 37, n. 3, p. 411, doi. 10.1046/j.1529-8817.2001.037003411.x
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- Publication type:
- Article
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.
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- Journal of Human Genetics, 2011, v. 56, n. 3, p. 247, doi. 10.1038/jhg.2010.162
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- Publication type:
- Article
Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition.
- Published in:
- Science Signaling, 2016, v. 9, n. 421, p. 1, doi. 10.1126/scisignal.aad0163
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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
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
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
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- Nature Genetics, 2007, v. 39, n. 1, p. 80, doi. 10.1038/ng1927
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- Publication type:
- Article
<italic>TOX3</italic> Variants Are Involved in Restless Legs Syndrome and Parkinson’s Disease with Opposite Effects.
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- Journal of Molecular Neuroscience, 2018, v. 64, n. 3, p. 341, doi. 10.1007/s12031-018-1031-4
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- Publication type:
- Article
Retention of hexanucleotide repeatcontaining intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0289-4
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- Publication type:
- Article
Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-014-0181-z
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- Publication type:
- Article
FET proteins regulate lifespan and neuronal integrity.
- Published in:
- Scientific Reports, 2016, p. 25159, doi. 10.1038/srep25159
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- Publication type:
- Article
Mutation Burden of Rare Variants in Schizophrenia Candidate Genes.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128988
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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
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in <i>C. elegans</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083450
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- Publication type:
- Article
Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics
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- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0065294
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- Publication type:
- Article
Comparative Analysis of the Expression Profile of <i>Wnk1</i> and <i>Wnk1/Hsn2</i> Splice Variants in Developing and Adult Mouse Tissues.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057807
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- Publication type:
- Article
LINGO1 Variants in the French-Canadian Population.
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- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016254
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- Publication type:
- Article
ALS: Recent Developments from Genetics Studies.
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- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 6, p. 1, doi. 10.1007/s11910-016-0658-1
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- Publication type:
- Article
Schizophrenia Genetics: Putting All the Pieces Together.
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- Current Neurology & Neuroscience Reports, 2012, v. 12, n. 3, p. 261, doi. 10.1007/s11910-012-0266-7
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- Publication type:
- Article
Recent advances in the genetics of amyotrophic lateral sclerosis.
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- Current Neurology & Neuroscience Reports, 2009, v. 9, n. 3, p. 198, doi. 10.1007/s11910-009-0030-9
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- Publication type:
- Article
Chronic lithium treatment alters the excitatory/ inhibitory balance of synaptic networks and reduces mGluR5--PKC signalling in mouse cortical neurons.
- Published in:
- Journal of Psychiatry & Neuroscience, 2021, v. 46, n. 3, p. E402, doi. 10.1503/jpn.200185
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- Publication type:
- Article
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
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- EMBO Reports, 2014, v. 15, n. 7, p. 766, doi. 10.15252/embr.201438840
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- Publication type:
- Article
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
- Published in:
- 2009
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- Publication type:
- journal article
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00318-9
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- Publication type:
- Article
Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01624-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
Analysis of the effects of rare variants on splicing identifies alterations in GABA<sub>A</sub> receptor genes in autism spectrum disorder individuals.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 749, doi. 10.1038/ejhg.2012.243
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- Publication type:
- Article
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 237, doi. 10.1038/ejhg.2012.135
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- Publication type:
- Article
ALS predisposition modifiers: Knock NOX, who's there? SOD1 mice still are.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 140, doi. 10.1038/sj.ejhg.5201961
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- Publication type:
- Article
The FUS about arginine methylation in ALS and FTLD.
- Published in:
- EMBO Journal, 2012, v. 31, n. 22, p. 4249, doi. 10.1038/emboj.2012.291
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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
Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes.
- Published in:
- Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-1105-z
- By:
- Publication type:
- Article
A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 8, p. 942, doi. 10.1001/jamaneurol.2015.0888
- By:
- Publication type:
- Article
SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 10, p. 1296, doi. 10.1001/jamaneurol.2013.3268
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- Publication type:
- Article
Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01219
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- Publication type:
- Article
A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 6, p. 652, doi. 10.1111/j.1469-1809.2009.00546.x
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- Publication type:
- Article
Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.
- Published in:
- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0225186
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- Publication type:
- Article