Associated Papers
Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
Chen S et al.
Frontiers in Molecular Neuroscience, 2022
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
Cooper-Knock J et al.
Frontiers in Molecular Neuroscience, 2017
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf
Investigation of recessive ataxia loci in patients with young age of onset.
Zühlke C et al.
Neuropediatrics, 2007
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