Mitochondrial Diseases Concept

subject area of

• 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
• 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