T. Dunaway

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

T. Wieland, J. Hardy, T. Meitinger, 2012, American journal of human genetics.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

J. Hardy, T. Meitinger, H. Prokisch, 2013, Brain : a journal of neurology.

Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency

E. Zimmerman, R. Egan, R. Steiner, 2003, Neurology.