Majamaa K
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Publications:
Title | Authors | Year | Journal |
---|---|---|---|
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. | Majamaa K | Lancet | |
Digenic mutations in severe myoclonic epilepsy of infancy. | Majamaa K | 2009 | Epilepsy research |
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. | Majamaa K | 2008 | Epilepsia |
Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. | Majamaa K | 2008 | Parkinsonism & related disorders |
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. | Majamaa K | 2005 | American journal of human genetics |