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Search results (280)

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Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.

Dombi E. et al, (2024), Front Cell Dev Biol, 12

Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.

Spath K. et al, (2021), Fertil Steril, 115, 1521 - 1532

The contribution of X-linked coding variation to severe developmental disorders.

Martin HC. et al, (2021), Nat Commun, 12

cetyl-leucine slows disease progression in lysosomal storage disorders.

Kaya E. et al, (2021), Brain Commun, 3

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

Klionsky DJ. et al, (2021), Autophagy, 17, 1 - 382

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.

Catarino CB. et al, (2020), J Neuroophthalmol, 40, 558 - 565

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

Hathazi D. et al, (2020), EMBO J, 39

Evidence for 28 genetic disorders discovered by combining healthcare and research data.

Kaplanis J. et al, (2020), Nature, 586, 757 - 762

Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C.

Colaco A. et al, (2020), Life Sci Alliance, 3

Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.

Liu Y-T. et al, (2020), Hum Mol Genet, 29, 1547 - 1567

cetyl-Leucine slows disease progression in lysosomal storage disorders

Kaya E. et al, (2020)

ePresentation Sessions

(2020), European Journal of Neurology, 27, 103 - 522

Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report.

Li MCH. et al, (2020), Seizure, 76, 153 - 155

Loss of CHCHD2 and CHCHD10 Activates Oma1 Peptidase to Disrupt Mitochondrial Cristae Phenocopying Patient Mutations

Narendra D. et al, (2020), ANNALS OF NEUROLOGY, 88, S215 - S215

Loss of CHCHD2 and CHCHD10 disrupts mitochondrial cristae phenocopying patient mutations

Narendra D. et al, (2020), MOVEMENT DISORDERS, 35, S228 - S228

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