Associated Papers
Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.
Do Valle DA et al.
Journal of Child Neurology, 2026
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Child Neurology: TRAPPC4-Related Neurodevelopmental Disorder.
Forno A et al.
Neurology, 2025
Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency.
Hall R et al.
Stem Cell Research, 2025
TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.
Hall R et al.
International Journal of Molecular Sciences, 2024
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
Gul R et al.
Frontiers in Genetics, 2023
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Genetic disorders of cellular trafficking.
García-Cazorla A et al.
Trends in Genetics : Tig, 2022
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
Majethia P et al.
Annals of Human Genetics, 2022
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Ghosh SG et al.
European Journal of Human Genetics : Ejhg, 2021
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Saad AK et al.
Brain : a Journal of Neurology, 2020
Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
Van Bergen NJ et al.
Brain : a Journal of Neurology, 2020
Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
Van Bergen NJ et al.
Brain : a Journal of Neurology, 2020
Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
Kaur P et al.
Brain : a Journal of Neurology, 2020
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ et al.
Brain : a Journal of Neurology, 2020
Severe Microcephaly and Rapid Deterioration Due to Cortical Atrophy in Early Infancy: Consider TRAPPC4 Trappopathy.
Olmez A et al.
Annals of Indian Academy of Neurology, 0