Nerve conduction studies on SPOAN syndrome

Whole exome sequencing in the diagnosis of cerebellar developmental and brain neuronal...

The ancestry of Brazilian Northeast populations with high frequency of consanguineous...

Hypomyelination: clinical, electrophysiological, and neuroimaging characterizati...

Clinical and genetic investigation of hereditary spastic paraplegia

Functional and motor characterization of spastic paraplegia, optic atrophy and peripheral...

Contribution to clinical characterization of autosomal recessive hereditary atax...

Biochemical diagnosis of creatine deficiency syndromes

Investigation of chromosomal abnormalities in patients with corpus callosum malf...

Unraveling the molecular basis of SPOAN syndrome: deletion in homozygosis inregulatory...