Mutation - Open Access .click

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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.

Science, 1994
Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93--a ...
M. Gurney +9 more
semanticscholar +1 more source

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

, 1997
Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported that a PD susceptibility gene in a ...
M. Polymeropoulos +19 more
semanticscholar +1 more source

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Science, 1988
Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families.
D. Wallace +7 more
semanticscholar +1 more source

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease