subject area of
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A biallelic pathogenic variant in the
OGDH gene results in a neurological disorder with features of a mitochondrial disease Academic Article - A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant Academic Article
- A randomized trial of coenzyme Q10in mitochondrial disorders Academic Article
- A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy Academic Article
- Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes Academic Article
- Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders Academic Article
- Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Academic Article
- Clinical Use of Creatine in Neuromuscular and Neurometabolic Disorders Academic Article
- Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project Academic Article
- Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation Academic Article
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Academic Article
- Diagnosis of ‘possible’ mitochondrial disease: an existential crisis Academic Article
- Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing Academic Article
- Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions Academic Article
- Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians Academic Article
- How is Mitochondrial Biogenesis Affected in Mitochondrial Disease? Academic Article
- Identification of ataxia-associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids Academic Article
- Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence Academic Article
- Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2 Academic Article
- Management of mitochondrial diabetes in the era of novel therapies Academic Article
- Mental illness in patients with inherited mitochondrial disorders Academic Article
- Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities Academic Article
- Mitochondrial Myopathies: Diagnosis, Exercise Intolerance, and Treatment Options Academic Article
- Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy Academic Article
- Mouse models for mitochondrial disease Academic Article
- Muscle Physiology in Healthy Men and Women and Those with Metabolic Myopathies Academic Article
- Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Academic Article
- Nutritional and exercise-based therapies in the treatment of mitochondrial disease Academic Article
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Academic Article
- Polymerase gamma mutator mice rely on increased glycolytic flux for energy production Conference Paper
- Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges Academic Article
- Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management Academic Article
- Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB Academic Article
- Psychiatric symptoms correlate with metabolic indices in the hippocampus and cingulate in patients with mitochondrial disorders Academic Article
- Psychotropic medications and mitochondrial toxicity Academic Article
- Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency Academic Article
- Solid organ transplantation in primary mitochondrial disease: Proceed with caution Academic Article
- The Psychiatric Manifestations of Mitochondrial Disorders Academic Article
- The Psychiatric Presentation of Mitochondrial Disorders in Adults Academic Article
- The genotypic and phenotypic spectrum of MTO1 deficiency Academic Article
- The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies Academic Article
- The mitochondrial genome and psychiatric illness Academic Article
- Treating Psychiatric Illness in Patients With Mitochondrial Disorders Academic Article
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Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a
Canadian population Academic Article - Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians Academic Article