Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
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DOI: 10.1136/jmedgenet-2020-107007
Abstract: Background Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes are currently listed in the OMIM classification: hereditary sensory and autonomic neuropathy type 2… read more here.
Keywords: heterozygous kif1a; spectrum; variants underlie; underlie wide ... See more keywords
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
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DOI: 10.3390/genes14050972
Abstract: Background: KIF1A (kinesin family member 1A)-related disorders encompass a variety of diseases. KIF1A variants are responsible for autosomal recessive and dominant spastic paraplegia 30 (SPG, OMIM610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2… read more here.
Keywords: polish patients; knowledge kif1a; kif1a dependent; dependent disorders ... See more keywords