相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
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HUMAN MUTATION (2015)
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
Sahar Esmaeeli Nieh et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2015)
KIF1A mutation in a patient with progressive neurodegeneration
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JOURNAL OF HUMAN GENETICS (2014)
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
Andrea Citterio et al.
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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
Stephan Klebe et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Fadi F. Hamdan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
Jean-Baptiste Riviere et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
Yaniv Erlich et al.
GENOME RESEARCH (2011)
Complicated Forms of Autosomal Dominant Hereditary Spastic Paraplegia Are Frequent in SPG10
Cyril Goizet et al.
HUMAN MUTATION (2009)
Association of the kinesin motor KIF1A with the multimodular protein liprin-α
H Shin et al.
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Characterization of the movement of the kinesin motor KIF1A in living cultured neurons
JR Lee et al.
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