Associated Papers
Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.
Yousaf H et al.
Human Genomics, 2026
Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia.
Alzaidan H et al.
Cureus, 2024
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.
Kovalskaia VA et al.
Genes, 2022
HACE1 deficiency leads to structural and functional neurodevelopmental defects.
Nagy V et al.
Neurology. Genetics, 2019
A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India.
Hariharan N et al.
Human Genome Variation, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi N et al.
Nature Genetics, 2015
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