共 187 条
[1]
Kopanos C(2019)VarSome: the human genomic variant search engine Bioinformatics 35 1978-1980
[2]
Tsiolkas V(2006)Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q373 Brain 129 1456-1462
[3]
Kouris A(2017)Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene Eur J Neurol 24 741-747
[4]
Chapple CE(2011)Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis Genome Res 21 658-664
[5]
Albarca Aguilera M(2012)KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations Eur J Hum Genet 20 645-649
[6]
Meyer R(2021)Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review J Neurol 36 69-78
[7]
Massouras A(2015)De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy Hum Mutat 28 40-49
[8]
Klebe S(2020)KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia Eur J Hum Genet 20 290-2690
[9]
Azzedine H(2020)KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families BMC Neurol 262 2684-undefined
[10]
Durr A(2021)Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder HGG Adv undefined undefined-undefined