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Human Molecular Genetics|September 9, 2008
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletionAnna H Hakonen, Steffi Goffart, Sanna Marjavaara, et al.
The American Journal of Pathology|August 26, 2003
Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patientsSusa Enholm, Tuija Hienonen, Anu Suomalainen, et al.
Plos One|March 31, 2015
Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stressMasataka Ikeda, Tomomi Ide, Takeo Fujino, et al.
Human Gene Therapy|August 15, 2012
Capsid-modified adenoviral vectors for improved muscle-directed gene therapyKilian Guse, Masataka Suzuki, Gautam Sule, et al.
American Journal of Human Genetics|April 5, 2024
Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editorsSami Jalil, Timo Keskinen, Juhana Juutila, et al.
Human Molecular Genetics|October 26, 2018
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvementChristopher B Jackson, Martina Huemer, Ramona Bolognini, et al.
EMBO Molecular Medicine|September 21, 2016
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patientsSofia Ahola, Mari Auranen, Pirjo Isohanni, et al.
Human Molecular Genetics|February 5, 2008
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolismAnnina Lyly, Sanna K Marjavaara, Aija Kyttälä, et al.
The Journal of Biological Chemistry|June 16, 2009
Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forksJaakko L O Pohjoismäki, Steffi Goffart, Henna Tyynismaa, et al.
Lancet (London, England)|September 8, 2004
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic studyPetri Luoma, Atle Melberg, Juha O Rinne, et al.
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