Ian James
Holt
Publikationen, an denen er mitarbeitet Ian James Holt (6)
2024
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Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis
Acta Neuropathologica, Vol. 148, Núm. 1
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Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation
Brain, Vol. 147, Núm. 5, pp. 1899-1913
2021
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2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA
Nature Communications, Vol. 12, Núm. 1
2020
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279
2019
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders