De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.