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| 37940383 | Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. | J Med Genet | 2024 |
| 36709533 | Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. | Mol Genet Metab | 2023 |
| 37593415 | Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants. | HGG Adv | 2023 |
| 37578052 | Gastrointestinal Sensory Neuropathy and Dysmotility in Fabry Disease: Presentations and Effect on Patient's Quality of Life. | Clin Transl Gastroenterol | 2023 |
| 37770714 | Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You? | Neurotherapeutics | 2023 |
| 37349818 | The evolution of the mitochondrial disease diagnostic odyssey. | Orphanet J Rare Dis | 2023 |
| 37474973 | Correction to: The evolution of the mitochondrial disease diagnostic odyssey. | Orphanet J Rare Dis | 2023 |
| 37268435 | Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. | Neurology | 2023 |
| 36813315 | Clinical trials in mitochondrial diseases. | Handb Clin Neurol | 2023 |
| 35317023 | Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. | Adv Genet (Hoboken) | 2022 |
| 35353965 | Case 10-2022: A 78-Year-Old Man with Marked Ventricular Wall Thickening. | N Engl J Med | 2022 |
| 36562873 | Psychometric performance of the Primary Mitochondrial Myopathy Symptom Assessment (PMMSA) in a randomized, double-blind, placebo-controlled crossover study in subjects with mitochondrial disease. | J Patient Rep Outcomes | 2022 |
| 35980381 | Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. | Genet Med | 2022 |
| 33159463 | Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome". | J Inherit Metab Dis | 2021 |
| 33718511 | Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children. | Child Neurol Open | 2021 |
| 34410034 | The experiences and support needs of siblings of people with mucopolysaccharidosis. | Am J Med Genet A | 2021 |
| 32337332 | Mitochondrial diseases in North America: An analysis of the NAMDC Registry. | Neurol Genet | 2020 |
| 32030781 | Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. | J Inherit Metab Dis | 2020 |
| 31896620 | Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. | Neurology | 2020 |
| 32096613 | A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy. | J Cachexia Sarcopenia Muscle | 2020 |
| 33176089 | Case 35-2020: A 59-Year-Old Woman with Type 1 Diabetes Mellitus and Obtundation. | N Engl J Med | 2020 |
| 32601614 | The North American mitochondrial disease registry. | J Transl Genet Genom | 2020 |
| 32906214 | Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. | Hum Mutat | 2020 |
| 32786181 | Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. | N Engl J Med | 2020 |
| 30557092 | Relapsing remitting multiple sclerosis in progressive external ophthalmoplegia: A report of two cases. | Mult Scler | 2019 |
| 31687265 | A Newborn with Severe Ventriculomegaly: Expanding the <i>PPP2R1A</i> Gene Mutation Phenotype. | J Pediatr Genet | 2019 |
| 31653361 | Fatigue in primary genetic mitochondrial disease: No rest for the weary. | Neuromuscul Disord | 2019 |
| 29990538 | Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study. | Mitochondrion | 2019 |
| 31291520 | Case 21-2019: A 31-Year-Old Woman with Vision Loss. | N Engl J Med | 2019 |
| 31516925 | Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery. | Data Brief | 2019 |
| 31138493 | Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States. | Mol Genet Metab | 2019 |
| 30683676 | Diagnosis of 'possible' mitochondrial disease: an existential crisis. | J Med Genet | 2019 |
| 28980269 | Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. | J Inherit Metab Dis | 2018 |
| 30466460 | A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008-2015. | Orphanet J Rare Dis | 2018 |
| 29500292 | Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. | Neurology | 2018 |
| 29514022 | Case 7-2018: A 25-Year-Old Man with New-Onset Seizures. | N Engl J Med | 2018 |
| 29600276 | Diagnostic odyssey of patients with mitochondrial disease: Results of a survey. | Neurol Genet | 2018 |
| 29456923 | Response to the Letter to the Editor by Finsterer and Zarrouk-Mahjoub in Clin Nephrol Case Stud. 2018; 6: 1. | Clin Nephrol Case Stud | 2018 |
| 28749475 | Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. | Genet Med | 2017 |
| 28303425 | Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. | J Inherit Metab Dis | 2017 |
| 28445665 | Case 13-2017. A 41-Year-Old Man with Hearing Loss, Seizures, Weakness, and Cognitive Decline. | N Engl J Med | 2017 |
| 29215644 | Response to Newman et al. | Genet Med | 2017 |
| 29043143 | Focal segmental glomerulosclerosis associated with mitochondrial disease. | Clin Nephrol Case Stud | 2017 |
| 26844974 | ET-1 Stimulates Superoxide Production by eNOS Following Exposure of Vascular Endothelial Cells to Endotoxin. | Shock | 2016 |
| 27665271 | Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. | Mol Genet Metab | 2016 |
| 27297686 | Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment. | CNS Neurosci Ther | 2016 |
| 27444792 | Mitochondrial disease patients' perception of dietary supplements' use. | Mol Genet Metab | 2016 |
| 27312126 | Solid organ transplantation in primary mitochondrial disease: Proceed with caution. | Mol Genet Metab | 2016 |
| 27366228 | Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis. | Therap Adv Gastroenterol | 2016 |
| 26954033 | Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. | JAMA Neurol | 2016 |