Human mutation

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

Overcoming Presynaptic Effects of VAMP2 Mutations with 4-Aminopyridine Treatment.

A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders.

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Detecting prion protein gene mutations by denaturing gradient gel electrophoresis.

Detecting prion protein gene mutations by denaturing gradient gel electrophoresis.