Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Murtadha L. Al-Saady, Charlotte S. Kaiser, Felipe Wakasuqui, G. Christoph Korenke, Quinten Waisfisz, Abeltje Polstra, Petra J.W. Pouwels, Marianna Bugiani, Marjo S. Van Der Knaap, Roelineke J. Lunsing, Eva Liebau, Nicole I. Wolf*

*Corresponding author for this work

Research output: Contribution to Journal › Article › Academic › peer-review

Fingerprint

Dive into the research topics of 'Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy'. Together they form a unique fingerprint.

Medicine and Dentistry

Pharmacology, Toxicology and Pharmaceutical Science

Neuroscience

Biochemistry, Genetics and Molecular Biology