Intellectual disability and autism spectrum disorder (ASD) are common, and genetic testing
is increasingly performed in individuals with these diagnoses to inform prognosis, refine …

Background Monoallelic variants in the KIF1A gene are associated with a large set of clinical
phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned …

KIF1A-associated neurological disorder (KAND) encompasses a group of rare
neurodegenerative conditions caused by variants in KIF1A, a gene that encodes an …

KIF1A-associated neurological disorder (KAND) is a neurodegenerative and often lethal
ultrarare disease with a wide phenotypic spectrum associated with largely heterozygous de …

It is increasingly recognized that local protein synthesis (LPS) contributes to fundamental
aspects of axon biology, in both developing and mature neurons. Mutations in RNA-binding …

KIF1A is a critical cargo transport motor within neurons. More than 100 known mutations
result in KIF1A-associated neurological disorder (KAND), a degenerative condition for which …

In mammalian testes, the apical cytoplasm of each Sertoli cell holds up to several dozens of
germ cells, especially spermatids that are transported up and down the seminiferous …

KIF1A is a microtubule-dependent motor protein responsible for fast anterograde transport of
synaptic vesicle precursors in neurons. Pathogenic variants in KIF1A have been associated …

Graves' orbitopathy (GO) is an autoimmune disease that involves complex immune systems.
The mainstays of clinical management for this disease are surgery, targeted drugs therapy …

Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of
diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic …