Matt E. Hurles
Cambridge, ENG CB101SA, United Kingdom
Last Updated: 09/26/2026
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Found 3 publications
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Journal: American journal of human genetics
Published: July 23, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Journal: Brain : a journal of neurology
Published: January 05, 2013
Defective presynaptic choline transport underlies hereditary motor neuropathy.
Journal: American journal of human genetics
Published: April 24, 2012
Showing 1-3 of 3
Last Updated: 09/26/2026