Skip to Main Content

Paper Details

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
1
2024
-, ACBD5, ACBD6, ACBD6 defects, ACBD6 variants, ACBD6-deficiency, Chchd-related proteins, Fus, Marcks, Midline brain malformations, N, N-myristoyltransferase enzymes, NMTs, Xenopus, Xenopus tropicalis, Xenopus tropicalis acbd6 knockouts, acbd6, acbd6-deficient, acyl-CoA, acyl-CoA-binding domain-containing protein 6, cerebellar ataxia, cervical dystonia, cognitive and movement disorders, corpus callosum abnormalities, craniofacial dysmorphism, derived fibroblasts, developmental delay, dystonia, epilepsy, facial dysmorphism, gait impairment, head tremor, human, human cells, hypertonia, hypertrophy of the clava, hypokinesia, hypoplasia/agenesis of the anterior commissure, intellectual disability, jerky tremor, limb dystonia, limb spasticity, microcephaly, midbrain defects, movement disorder, movement disorders, myristoyltransferase, neurodevelopmental syndrome, neurological diseases, oculomotor (, overweight, parkinsonism, patient, patient-, patients, postural deformities, progressive neuromotor impairment, seizures, short midbrain, small inferior cerebellar, zebrafish
Author NameAffiliation
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Vorasuk ShotelersukKing Chulalongkorn Memorial Hospital, Chulalongkorn University
Matloob AzamWah Medical College
Jan KosterAmsterdam University Medical Centers location AMC
Jan KosterAmsterdam University Medical Centers location AMC
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
Wendy K ChungColumbia University Irving Medical Center
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
Joseph G GleesonUniversity of California
Joseph G GleesonRady Children's Institute for Genomic Medicine
Henry HouldenUCL Institute of Neurology
  • 1 - 18

Datasets