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Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
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Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis
Journal of neurology, ISSN 0340-5354, 12/2015, Volume 262, Issue 12, pp. 2684 - 2690
Dominant inheritance | Neurology | Neurosciences | Medicine & Public Health | Spastic paraparesis | NGS-targeted resequencing | KIF1A | Neuroradiology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spastic Paraplegia, Hereditary - genetics | Humans | Middle Aged | Male | Young Adult | Phenotype | Genes, Dominant | Pedigree | Kinesin - genetics | Adult | Female | Aged | Mutation | Child | Spastic Paraplegia, Hereditary - physiopathology | Care and treatment | Patient outcomes | Development and progression | Genetic aspects | Research | Paraparesis, Tropical spastic | Risk factors | Index Medicus
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Journal of virology, ISSN 0022-538X, 05/2020, Volume 94, Issue 9
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Human mutation, ISSN 1059-7794, 01/2015, Volume 36, Issue 1, pp. 69 - 78
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Current biology, ISSN 0960-9822, 01/2019, Volume 29, Issue 2, pp. 268 - 282.e8
synaptic strength | dynein | kinesin | microtubule dynamics | axonal transport | KIF1A | synaptic vesicles | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Hippocampus - metabolism | Animals | Microtubules - physiology | Kinesin - genetics | Rats | Neurons - metabolism | Synaptic Vesicles - physiology | Kinesin - metabolism | Index Medicus
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Journal of the peripheral nervous system, ISSN 1085-9489, 12/2017, Volume 22, Issue 4, pp. 460 - 463
KIF1A | autism spectrum disorder | Kinesin family member 1A gene | peripheral neuropathy | next‐generation sequencing | next-generation sequencing | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Autism | Nervous system diseases | Genetic aspects | Hereditary spastic paraplegia | Paraplegia | Spasticity | Nervous system | Neuropathy | Paralysis | Mutation | Spastic paraplegia | Kinesin | Binding sites | Index Medicus | Case Report | Case Reports
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Cell reports (Cambridge), ISSN 2211-1247, 09/2019, Volume 28, Issue 11, pp. 2807 - 2823.e5
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Human mutation, ISSN 1059-7794, 10/2020, Volume 41, Issue 10, pp. 1761 - 1774
MECP2 | microtubule | neurite tip accumulation | kinesin | Rett syndrome | KIF1A | KAND | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nervous system diseases | Kinesin | Neurological diseases | Molecular modelling | Microtubules | Neurodevelopmental disorders | Cell differentiation | Gliding | Index Medicus
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Human mutation, ISSN 1059-7794, 12/2020, Volume 41, Issue 12, pp. 2094 - 2104
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A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
Frontiers in genetics, ISSN 1664-8021, 02/2020, Volume 11, pp. 61 - 61
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