KIF1A ‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
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Title
KIF1A
‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement
Authors
Keywords
-
Journal
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2020-02-25
DOI
10.1111/jns.12368
References
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Related references
Note: Only part of the references are listed.- KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
- (2019) Maartje Pennings et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex
- (2018) Debopam Samanta et al. JOURNAL OF CLINICAL NEUROSCIENCE
- Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene
- (2017) M. Krenn et al. EUROPEAN JOURNAL OF NEUROLOGY
- A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
- (2017) Pedro J. Tomaselli et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene
- (2017) Chong Kun Cheon et al. Scientific Reports
- De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
- (2015) Sylvie Langlois et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
- (2015) Emil Ylikallio et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis
- (2015) Andrea Citterio et al. JOURNAL OF NEUROLOGY
- De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
- (2014) Jae-Ran Lee et al. HUMAN MUTATION
- KIF1A mutation in a patient with progressive neurodegeneration
- (2014) Nobuhiko Okamoto et al. JOURNAL OF HUMAN GENETICS
- KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
- (2012) Stephan Klebe et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
- (2011) Jean-Baptiste Rivière et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
- (2011) Y. Erlich et al. GENOME RESEARCH
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
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