ArticleHGG advances2021
Genotype and defects in microtubule-based motility correlate with clinical severity in
Abstract read
In one paragraph
Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 1 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.Journal of neurology · 2022Pooled it
- Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.The Journal of cell biology · 2026Article
- KIF1A-associated neurological disorders: therapeutic opportunities and challenges.European journal of human genetics : EJHG · 2026Review
- Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.Current issues in molecular biology · 2026Review
- KIF1A-mediated trafficking is required for neuronal autophagy in human neurons.bioRxiv : the preprint server for biology · 2026Article
- Instrumented Three-Dimensional Gait Analysis in an Adult With KIF1A-Associated Neurological Disorder: A Case Report.Cureus · 2026Article
- "I felt like a lone ranger": experiences of Australian families living with KIF1A-Associated Neurological Disorder.Journal of community genetics · 2026Article
- The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity.Journal of neurochemistry · 2026Review
- FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant.Neuropathology and applied neurobiology · 2026Article
- KLP-6 is a kinesin superfamily protein resistant to ADP inhibition.Communications biology · 2026Article
- Pathogenic KIF1A R350 mutations disrupt a conserved and conformation-dependent kinesin-tubulin salt bridge.Nature communications · 2026Article
- Stall force measurement of the kinesin-3 motor KIF1A using a programmable DNA origami nanospring.eLife · 2026Article
- Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.bioRxiv : the preprint server for biology · 2026Article
- Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro.Nature communications · 2026Article
- A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.JIMD reports · 2026Article
- Understanding speech and language in KIF1A-associated neurological disorder.European journal of human genetics : EJHG · 2026Article
- ALS Mutations Shift the Isoelectric Point of the KIF5A C Terminal Inducing Protein Aggregation and TDP-43 Mislocalization.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.Biomolecules · 2025Article
- Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders.Current neurology and neuroscience reports · 2025Review
- Mechanism and regulation of kinesin motors.Nature reviews. Molecular cell biology · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Lia BoyleDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Lu RaoDepartment of Anatomy and Structural Biology and Gruss Lipper Biophotonics Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Simranpreet KaurMurdoch Children's Research Institute, Parkville, Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Xiao FanDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Caroline MebaneDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Laura HammGenetic & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Andrew ThorntonColumbia University Vagelos College of Physicians and Surgeons, New York, NY 10032, USA.
Jared T AhrendsenDepartment of Pathology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
Matthew P AndersonDepartment of Pathology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
John ChristodoulouMurdoch Children's Research Institute, Parkville, Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Arne GennerichDepartment of Anatomy and Structural Biology and Gruss Lipper Biophotonics Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Yufeng ShenDepartment of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Funding
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MTRAINING IN CELLULAR, MOLECULAR AND BIOPHYSICAL STUDIEST32GM008224 · NIGMS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI LIEM, RONALD K. · 1987 to 2021
$9.9MNRSA Training CoreTL1TR001875 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPANN, MARISA N, TAYLOR, JACQUELYN Y · 2016 to 2025
$8.9MResource for Biocomputing Visualization and InformaticsP41GM103311 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERRIN, THOMAS E · 2012 to 2017
$8.2MSUPPORT FOR THE ROSE F KENNEDY IDDRC P50P50HD105352 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI Julie Secombe · 2021 to 2026
$7.0MRole of the Kinesin KIF1A in Neurological DiseaseR01NS114636 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, GENNERICH, ARNE · 2020 to 2024
$3.2MThe Brief Research in Aging and Interdisciplinary NeurosciencesT35AG044303 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Sachin Agarwal, Jennifer Jaie Manly · 2013 to 2026
$1.9MNCATS NIH HHS TL1 TR001875NCATS NIH HHS UL1 TR001873NIA NIH HHS T35 AG044303NICHD NIH HHS P50 HD105352NIGMS NIH HHS P41 GM103311NIGMS NIH HHS T32 GM008224NINDS NIH HHS R01 NS114636
Abstract
KIF1A-associated neurological disorder (KAND) encompasses a group of rare neurodegenerative conditions caused by variants in
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.