Found: 291
Select item for more details and to access through your institution.
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
- By:
- Publication type:
- Article
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
- By:
- Publication type:
- Article
Case-Control and Family-Based Association Study of Specific PTPRD Variants in Restless Legs Syndrome.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 5, p. 460, doi. 10.1002/mdc3.12306
- By:
- Publication type:
- Article
Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 5, p. 465, doi. 10.1002/mdc3.12309
- By:
- Publication type:
- Article
Decreased global methylation in patients with bipolar disorder who respond to lithium.
- Published in:
- International Journal of Neuropsychopharmacology, 2014, v. 17, n. 4, p. 561, doi. 10.1017/S1461145713001569
- By:
- Publication type:
- Article
Differential effect of lithium on spermidine/spermine N1-acetyltransferase expression in suicidal behaviour.
- Published in:
- International Journal of Neuropsychopharmacology, 2013, v. 16, n. 10, p. 2209, doi. 10.1017/S1461145713000655
- By:
- Publication type:
- Article
H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.
- Published in:
- International Journal of Neuropsychopharmacology, 2013, v. 16, n. 2, p. 289, doi. 10.1017/S1461145712000363
- By:
- Publication type:
- Article
Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
- Published in:
- International Journal of Neuropsychopharmacology, 2005, v. 8, n. 4, p. 495, doi. 10.1017/s1461145705005821
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Reliability and correlation of mixture cell correction in methylomic and transcriptomic blood data.
- Published in:
- BMC Research Notes, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13104-020-4936-2
- By:
- Publication type:
- Article
A closer look at the history and genetics of Tourette syndrome.
- Published in:
- Salud Mental, 2008, v. 31, n. 2, p. 103
- By:
- Publication type:
- Article
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
- Published in:
- Journal of Child Neurology, 2020, v. 35, n. 2, p. 106, doi. 10.1177/0883073819878917
- By:
- Publication type:
- Article
Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 4, doi. 10.1186/1750-1172-6-4
- By:
- 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
- By:
- Publication type:
- Article
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4608, doi. 10.1093/brain/awad224
- By:
- Publication type:
- Article
Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
- Published in:
- 2020
- By:
- Publication type:
- Letter
POLR3A variants in hereditary spastic paraplegia and ataxia.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
- Published in:
- 2015
- By:
- Publication type:
- journal article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Selective Enhancement of REM Sleep in Male Rats through Activation of Melatonin MT<sub>1</sub> Receptors Located in the Locus Ceruleus Norepinephrine Neurons.
- Published in:
- Journal of Neuroscience, 2024, v. 44, n. 29, p. 1, doi. 10.1523/JNEUROSCI.0914-23.2024
- By:
- Publication type:
- Article
Strategies for studying the epilepsy genome.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 58, doi. 10.1111/j.1528-1167.2010.02844.x
- By:
- Publication type:
- Article
Mutated GABA.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, p. 62, doi. 10.1111/j.1528-1167.2010.02848.x
- By:
- Publication type:
- Article
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Molecular Genetics of Neurofibromatosis 2 and Related Tumors (Acoustic Neuroma and Meningioma)<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1991, v. 615, n. 1, p. 338, doi. 10.1111/j.1749-6632.1991.tb37776.x
- By:
- 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
- By:
- Publication type:
- Article
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.
- Published in:
- Cerebellum, 2022, v. 21, n. 1, p. 49, doi. 10.1007/s12311-021-01268-1
- By:
- Publication type:
- Article
The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.
- Published in:
- Cerebellum, 2019, v. 18, n. 6, p. 1098, doi. 10.1007/s12311-019-01052-2
- By:
- Publication type:
- Article
Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.
- Published in:
- Cerebellum, 2019, v. 18, n. 4, p. 731, doi. 10.1007/s12311-019-01033-5
- By:
- Publication type:
- Article
Cognitive Impairment in ARCA-1, a Newly Discovered Pure Cerebellar Ataxia Syndrome.
- Published in:
- Cerebellum, 2010, v. 9, n. 3, p. 443, doi. 10.1007/s12311-010-0184-7
- By:
- Publication type:
- Article
Response Inhibition in Tic Disorders: Waiting to Respond Is Harder When ADHD Is Present.
- Published in:
- 2016
- By:
- Publication type:
- journal article
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
- By:
- Publication type:
- Article
Synaptic processes and immune-related pathways implicated in Tourette syndrome.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-020-01082-z
- By:
- Publication type:
- Article
Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 3, p. 247, doi. 10.1038/jhg.2010.162
- By:
- Publication type:
- Article
Human copy number variants are enriched in regions of low mappability.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 14, p. 7236, doi. 10.1093/nar/gky538
- By:
- Publication type:
- Article
Automated design of hammerhead ribozymes and validation by targeting the PABPN1 gene transcript.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 4, p. 1, doi. 10.1093/nar/gkv1111
- By:
- 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
- By:
- Publication type:
- Article
Adolescent anxiety and pain problems: A joint, genome-wide investigation and pathway-based analysis.
- Published in:
- PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0285263
- By:
- Publication type:
- Article
A novel homozygous <italic>AP4B1</italic> mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 985, doi. 10.1002/ajmg.a.38628
- By:
- Publication type:
- Article
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1225, doi. 10.1002/ajmg.a.37566
- By:
- Publication type:
- Article
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura.
- Published in:
- Nature Medicine, 2010, v. 16, n. 10, p. 1157, doi. 10.1038/nm.2216
- By:
- Publication type:
- Article
FAMILIAL AGGREGATION OF ATYPICAL DEMENTIA IN A LARGE CANADIAN FAMILY: THE MISSING GENE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P302, doi. 10.1016/j.jalz.2017.06.223
- By:
- Publication type:
- Article
Variation in genome-wide mutation rates within and between human families.
- Published in:
- Nature Genetics, 2011, v. 43, n. 7, p. 712, doi. 10.1038/ng.862
- By:
- 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
- By:
- Publication type:
- Article
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
- Published in:
- Nature Genetics, 2007, v. 39, n. 1, p. 80, doi. 10.1038/ng1927
- By:
- Publication type:
- Article
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 300, doi. 10.1038/ng1740
- By:
- Publication type:
- Article