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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

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