Found: 90
Select item for more details and to access through your institution.
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.
- Published in:
- 2017
- By:
- Publication type:
- journal article
SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.
- Published in:
- 2016
- By:
- Publication type:
- case study
Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum.
- Published in:
- Journal of Neuroscience, 2012, v. 32, n. 11, p. 3865, doi. 10.1523/JNEUROSCI.3679-11.2012
- By:
- 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
- By:
- Publication type:
- Article
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.
- Published in:
- Neurogenetics, 2015, v. 16, n. 4, p. 315, doi. 10.1007/s10048-015-0455-z
- By:
- Publication type:
- Article
Rare Variants in Complex Traits: Novel Identification Strategies and the Role of de novo Mutations.
- Published in:
- Human Heredity, 2013, v. 74, n. 3/4, p. 215, doi. 10.1159/000346478
- By:
- Publication type:
- Article
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
- Published in:
- 2009
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30665-6
- 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
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1363, doi. 10.1093/hmg/ddu545
- By:
- Publication type:
- Article
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 12, p. 2350, doi. 10.1093/hmg/ddt080
- By:
- Publication type:
- Article
Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2211, doi. 10.1093/hmg/dds036
- By:
- Publication type:
- Article
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 15, p. 3102, doi. 10.1093/hmg/ddq203
- By:
- Publication type:
- Article
Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 4, p. 671, doi. 10.1093/hmg/ddp534
- By:
- Publication type:
- Article
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1065, doi. 10.1093/hmg/ddn443
- By:
- Publication type:
- Article
Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 17, p. 2691, doi. 10.1093/hmg/ddn171
- By:
- Publication type:
- Article
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl− co-transporter 3.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 17, p. 2703, doi. 10.1093/hmg/ddn172
- By:
- Publication type:
- Article
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 18, p. 2649, doi. 10.1093/hmg/ddi299
- By:
- 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
- By:
- Publication type:
- Article
ALS: Recent Developments from Genetics Studies.
- Published in:
- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 6, p. 1, doi. 10.1007/s11910-016-0658-1
- By:
- Publication type:
- Article
Schizophrenia Genetics: Putting All the Pieces Together.
- Published in:
- Current Neurology & Neuroscience Reports, 2012, v. 12, n. 3, p. 261, doi. 10.1007/s11910-012-0266-7
- By:
- Publication type:
- Article
Recent advances in the genetics of amyotrophic lateral sclerosis.
- Published in:
- Current Neurology & Neuroscience Reports, 2009, v. 9, n. 3, p. 198, doi. 10.1007/s11910-009-0030-9
- By:
- Publication type:
- Article
Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
- Published in:
- 2020
- By:
- Publication type:
- letter
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
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
- 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
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 9, p. 941, doi. 10.1002/acn3.228
- By:
- 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
- By:
- Publication type:
- Article
Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-014-0181-z
- 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
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
- By:
- 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
- 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
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
- 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
WNK1/HSN2 Mutation in Human Peripheral Neuropathy Deregulates KCC2 Expression and Posterior Lateral Line Development in Zebrafish (Danio rerio)
- Published in:
- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003124
- 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
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
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
- By:
- Publication type:
- Article
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
- Published in:
- Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00386
- By:
- 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
- By:
- Publication type:
- Article
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
SEASONAL VARIABILITY OF PHYSICOCHEMICAL AND RHEOLOGICAL PROPERTIES OF ULVAN IN TWO ULVA SPECIES (CHLOROPHYTA) FROM THE BRITTANY COAST.
- Published in:
- Journal of Phycology, 2009, v. 45, n. 4, p. 962, doi. 10.1111/j.1529-8817.2009.00699.x
- By:
- Publication type:
- Article
CLONAL PROPAGATION OF LAMINARIA DIGITATA (PHAEOPHYCEAE) SPOROPHYTES THROUGH A DIPLOID CELL-FILAMENT SUSPENSION.
- Published in:
- Journal of Phycology, 2001, v. 37, n. 3, p. 411, doi. 10.1046/j.1529-8817.2001.037003411.x
- By:
- 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
- By:
- Publication type:
- Article
Potassium-Chloride Cotransporter 3 Interacts with Vav2 to Synchronize the Cell Volume Decrease Response with Cell Protrusion Dynamics
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0065294
- By:
- 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
- By:
- Publication type:
- Article