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  Journal Articles
• A mitochondrial disorder with ptosis and exercise intolerance without ophthalmoparesis secondary to m.5865 T > C variant  Journal Articles
• A randomized trial of coenzyme Q₁₀ in mitochondrial disorders  Journal Articles
• A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy  Journal Articles
• Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes  Journal Articles
• Beneficial effects of creatine, CoQ₁₀, and lipoic acid in mitochondrial disorders  Journal Articles
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Journal Articles
• Clinical Use of Creatine in Neuromuscular and Neurometabolic Disorders  Journal Articles
• Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project  Journal Articles
• Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation  Journal Articles
• Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society  Journal Articles
• Diagnosis of ‘possible’ mitochondrial disease: an existential crisis  Journal Articles
• Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing  Journal Articles
• Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions  Journal Articles
• Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians  Journal Articles
• How is Mitochondrial Biogenesis Affected in Mitochondrial Disease?  Journal Articles
• Identification of ataxia‐associated mtDNA mutations (m.4052T>C and m.9035T>C) and evaluation of their pathogenicity in transmitochondrial cybrids  Journal Articles
• Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence  Journal Articles
• Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2  Journal Articles
• Management of mitochondrial diabetes in the era of novel therapies  Journal Articles
• Mental illness in patients with inherited mitochondrial disorders  Journal Articles
• Metabolic features of treatment-refractory major depressive disorder with suicidal ideation  Journal Articles
• 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  Journal Articles
• Mitochondrial Myopathies: Diagnosis, Exercise Intolerance, and Treatment Options  Journal Articles
• Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy  Journal Articles
• Mouse models for mitochondrial disease  Journal Articles
• Muscle Physiology in Healthy Men and Women and Those with Metabolic Myopathies  Journal Articles
• Muscle mitochondrial function is impaired in adults with type 1 diabetes  Journal Articles
• Natural disease course and genotype‐phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases  Journal Articles
• Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10  Journal Articles
• Nutritional and exercise-based therapies in the treatment of mitochondrial disease  Journal Articles
• Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society  Journal Articles
• Polymerase gamma mutator mice rely on increased glycolytic flux for energy production  Conferences
• Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges  Journal Articles
• Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management  Journal Articles
• Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB  Journal Articles
• Psychiatric symptoms correlate with metabolic indices in the hippocampus and cingulate in patients with mitochondrial disorders  Journal Articles
• Psychotropic medications and mitochondrial toxicity  Journal Articles
• Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency  Journal Articles
• Solid organ transplantation in primary mitochondrial disease: Proceed with caution  Journal Articles
• Structure-specific roles for PolG2–DNA complexes in maintenance and replication of mitochondrial DNA  Journal Articles
• The Psychiatric Manifestations of Mitochondrial Disorders  Journal Articles
• The Psychiatric Presentation of Mitochondrial Disorders in Adults  Journal Articles
• The genotypic and phenotypic spectrum of MTO1 deficiency  Journal Articles
• The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies  Journal Articles
• The mitochondrial genome and psychiatric illness  Journal Articles
• Treating Psychiatric Illness in Patients With Mitochondrial Disorders  Journal Articles
• Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population  Journal Articles
• Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians  Journal Articles