Associated Papers
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.
Amor DJ et al.
Neurology. Genetics, 2016
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.
Lines MA et al.
Neurology, 2014
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL et al.
Human Mutation, 2014
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