Associated Papers
α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.
Rashedi R et al.
Movement Disorders Clinical Practice, 2024
Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.
Alsalamah AK et al.
Molecular Vision, 2021
Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance.
Kos MZ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Haugarvoll K et al.
Orphanet Journal of Rare Diseases, 2013
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