Marina Kennerson

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh et al. · The American Journal of Human Genetics · 2004 · 810 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Genetic Disorder +8

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Stephan Züchner, Maher Noureddine, Marina Kennerson et al. · Nature Genetics · 2005 · 356 citations

Mendelian Disorder, Genetics, Pathogenesis +6

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

Garth A. Nicholson, Linda J. Valentijn, Annia K. Cherryson et al. · Nature Genetics · 1994 · 227 citations

Peripheral Nerves, Genetic Disorder, Medicine +9

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

Christine L. Chiu, Richard D. Bagnall, Jodie Ingles et al. · Journal of the American College of Cardiology · 2009 · 191 citations

Cardiac Muscle, Cardiomyopathy, Heart Failure +5

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Marina Kennerson, Garth A. Nicholson, Stephen G. Kaler et al. · The American Journal of Human Genetics · 2010 · 186 citations · Full text

Missense Mutations, Genetic Disorder, Medicine +5