KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement-Reference-Cited by-同舟云学术

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KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement

Published:2020-03-06 Issue:2 Volume:25 Page:117-124
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Nemani Tarishi¹,Steel Dora¹²^ORCID,Kaliakatsos Marios¹,DeVile Catherine¹,Ververi Athina³,Scott Richard³,Getov Spas⁴,Sudhakar Sniya⁵,Male Alison³,Mankad Kshitij⁵,Muntoni Francesco¹²,Reilly Mary M⁶,Kurian Manju A¹²,Carr Lucinda¹,Munot Pinki¹,

Affiliation:

1. Department of Paediatric NeurologyGreat Ormond Street Hospital London UK

2. Department of Developmental NeurosciencesUCL Great Ormond Street Institute of Child London UK

3. Department of Clinical GeneticsGreat Ormond Street Hospital London UK

4. Department of NeurophysiologyGreat Ormond Street Hospital London UK

5. Department of RadiologyGreat Ormond Street Hospital London UK

6. Department of Neuromuscular DiseaseUCL Queen Square Institute of Neurology London UK

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12368

Reference21 articles.

1. The neuron-specific kinesin superfamily protein KIF1A is a uniqye monomeric motor for anterograde axonal transport of synaptic vesicle precursors

2. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

3. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

4. KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

5. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

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3. A plant flavonol and genetic suppressors rescue a pathogenic mutation associated with kinesin in neurons;Proceedings of the National Academy of Sciences;2024-01-25

4. Autosomal dominant neurodevelopmental disorders associated with <italic>KIF1A</italic> gene variants in 6 pediatric patients;Journal of Zhejiang University (Medical Sciences);2023-12-01

5. The High Prevalence of Cardiac Autonomic Neuropathy in Selected Epilepsy Patients May Depend on the Diagnostic Methods Used;Nigerian Journal of Clinical Practice;2023-11

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