Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.
Francisco S et al.
Protein Science : a Publication of the Protein Society, 2025
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
Bellad A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Beheshtian M et al.
Clinical Genetics, 2021
Genetics of intellectual disability in consanguineous families.
Hu H et al.
Molecular Psychiatry, 2019
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Roubertie A et al.
Neurology. Genetics, 2018
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Bettencourt C et al.
Orphanet Journal of Rare Diseases, 2017
Contiguous mutation syndrome in the era of high-throughput sequencing.
Langouët M et al.
Molecular Genetics & Genomic Medicine, 2015
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K et al.
Human Molecular Genetics, 2015
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.
Hirst J et al.
Traffic (copenhagen, Denmark), 2013
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H et al.
Nature, 2011
Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.
Kamate M et al.
Annals of Indian Academy of Neurology, 0