Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?
Clin. Dysmorphol., Jan;21(1):8-10 (2012)
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
Neurology., Oct;65(8):1301-3 (2005)
Genetic spectrum of hereditary neuropathies with onset in the first year of life
Brain, 134: 2664-2676
Spastic Paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect
Annals of Neurology, 59: 398-403
Biopsy in a patient with PMP22 exon 2 mutation recapitulates the pathology of the Trembler J mouse
Neuromuscular Disorders, 2012