Initial experience in the treatment of inherited mitochondrial disease with EPI-743. (Q34633928)

3 August 2017

Initial experience in the treatment of inherited mitochondrial disease with EPI-743. (English)

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3 August 2017

mitochondrial disease

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3

Susan L Perlman

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3 August 2017

Gregory M Enns

1

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3 August 2017

Stephen L Kinsman

2

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3 August 2017

Kenneth M Spicer

4

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3 August 2017

Jose E Abdenur

5

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3 August 2017

Bruce H Cohen

6

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3 August 2017

Akiko Amagata

7

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3 August 2017

Adam Barnes

8

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3 August 2017

Viktoria Kheifets

9

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3 August 2017

William D Shrader

10

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3 August 2017

Martin Thoolen

11

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3 August 2017

Francis Blankenberg

12

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3 August 2017

Guy Miller

13

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3 August 2017

language of work or name

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21 October 2011

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Molecular Genetics and Metabolism

3 August 2017

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3 August 2017

105

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3 August 2017

91-102

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3 August 2017

1

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Mitochondrial respiratory-chain diseases

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Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes

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Pathogenic mitochondrial DNA mutations are common in the general population

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Treatment of mitochondrial electron transport chain disorders: a review of clinical trials over the past decade

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Mitochondrial diseases in man and mouse

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Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

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Glutathione deficiency in patients with mitochondrial disease: implications for pathogenesis and treatment

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The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies

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Coenzyme Q10 administration increases brain mitochondrial concentrations and exerts neuroprotective effects

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Clinical trials of coenzyme Q10 in neurological disorders

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A randomized trial of coenzyme Q10 in mitochondrial disorders

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Short-term effects of coenzyme Q10 in progressive supranuclear palsy: a randomized, placebo-controlled trial

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Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study

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Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS.

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Remission of Leber's hereditary optic neuropathy with idebenone

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A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

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Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia

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A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia

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The Interaction of Q Analogs, Particularly Hydroxydecyl Benzoquinone (Idebenone), with the Respiratory Complexes of Heart Mitochondria

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α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging

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A scale to monitor progression and treatment of mitochondrial disease in children.

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Mitochondrial disease in adults: a scale to monitor progression and treatment

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A comparison of (99m)Tc-HMPAO SPET changes in dementia with Lewy bodies and Alzheimer's disease using statistical parametric mapping.

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Astrocytes as a predominant cellular site of (99m)Tc-HMPAO retention

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DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

7 January 2021

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99mTc-propylene amine oxime (99mTc-PnAO); a potential brain radiopharmaceutical

7 January 2021

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Two decades of orphan product development

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The epidemiology of mitochondrial disorders--past, present and future

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Translation of rare disease research into orphan drug development: disease matters

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High-affinity transport of glutathione is part of a multicomponent system essential for mitochondrial function

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Glutathione deficiency leads to mitochondrial damage in brain

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Alterations in glutathione levels in Parkinson's disease and other neurodegenerative disorders affecting basal ganglia

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Depletion of brain glutathione is accompanied by impaired mitochondrial function and decreased N-acetyl aspartate concentration.

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Glutathione protects astrocytes from peroxynitrite-mediated mitochondrial damage: implications for neuronal/astrocytic trafficking and neurodegeneration

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Glutathione metabolism and oxidative stress in neurodegeneration

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Impairment of brain mitochondrial function by reactive nitrogen species: the role of glutathione in dictating susceptibility

7 January 2021

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Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

7 January 2021

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10.1016/J.YMGME.2011.10.009

7 January 2021

Identifiers

DOI

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3 August 2017

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