The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders

KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery

(2018) Julien Beyrath et al.   Scientific Reports

Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study

(2017) Torsten Kraya et al.   HEADACHE

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

(2017) Rob Ramakers et al.   Orphanet Journal of Rare Diseases

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

(2017) Saskia Koene et al.   Orphanet Journal of Rare Diseases

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease

(2017) Ria de Haas et al.   Scientific Reports

Mitochondrial Dysfunction in Depression

(2016) Yashika Bansal et al.   Current Neuropharmacology

Mitochondrial disorders in children: toward development of small-molecule treatment strategies

(2016) W. J. Koopman et al.   EMBO Molecular Medicine

Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome

(2016) A. Fayssoil et al.   EUROPEAN JOURNAL OF NEUROLOGY

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

(2016) Christianne Verhaak et al.   Orphanet Journal of Rare Diseases

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications

(2014) S. Koene et al.   NEUROLOGY

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

(2013) Brook Galna et al.   JOURNAL OF NEUROLOGY

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

(2012) Paul de Laat et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

(2012) Kieren G. Hollingsworth et al.   NEUROMUSCULAR DISORDERS

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

(2011) Thomas Klopstock et al.   BRAIN

Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe

(2011) Barbara Mascialino et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

(2011) P. Kaufmann et al.   NEUROLOGY

Mitochondrial Energetics and Therapeutics

(2010) Douglas C. Wallace et al.   Annual Review of Pathology-Mechanisms of Disease

A randomized trial of coenzyme Q10in mitochondrial disorders

(2010) Elisa I. Glover et al.   MUSCLE & NERVE

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

(2008) S. Koene et al.   JOURNAL OF AFFECTIVE DISORDERS