S. McWilliams

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene

N. Sambuughin, K. Sivakumar, A. de Bantel, 2003, Neurology.

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

T. Nelson, N. Sambuughin, K. Sivakumar, 2001, American journal of human genetics.

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia

T. Nelson, G. Zapata-Sudo, N. Sambuughin, 2002, Clinical genetics.

Novel mutation of the Spastin gene in familial spastic paraplegia

N. Sambuughin, K. Sivakumar, A. de Bantel, 2001, Clinical genetics.

The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population

M. Goyal, Aseem Sharma, A. Sharma, 2017, American Journal of Neuroradiology.