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
Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.
Selamioğlu A et al.
Jimd Reports, 2024
Alpha-methyl acetyl-coA racemase deficiency. Magnetic resonance imaging findings of three patients with encephalopathy, epilepsy, and stroke-like episodes.
Palacio-Montoya MI et al.
The Neuroradiology Journal, 2024
Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.
Isa HM et al.
Cureus, 2023
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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