R. Kiely

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

P. Andersen, E. Pioro, W. Seltzer, 2003 .

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis

Robert H. Brown, P. Andersen, E. Pioro, 2003 .

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Robert H. Brown, P. Andersen, E. Pioro, 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Mutational spectrum of the NF2 gene: a meta‐analysis of 12 years of research and diagnostic laboratory findings

K. Sims, M. Maccollin, W. Xin, 2007, Human mutation.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

H. Goebel, T. Mullen, Y. Shen, 2010, Neurology.

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

M. Brin, X. Breakefield, S. Bressman, 1999, Genetic testing.