Last Posted: Mar 04, 2021
- The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose Melis et al. Journal of pediatric endocrinology & metabolism : JPEM 2021
- Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study.
Vignal-Clermont Catherine et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2021 Feb
- Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Stenton Sarah L et al. EBioMedicine 2020 May 56102784
- Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
Shen Lishuang et al. Clinics in laboratory medicine 2020 Jun 40(2) 149-161
- Resolving complexity in mitochondrial disease: Towards precision medicine.
Boggan Róisín M et al. Molecular genetics and metabolism 128(1-2) 19-29
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley Lisa G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
- Mitochondrial disease in children.
Rahman Shamima et al. Journal of internal medicine 2020 Mar
- Strategies for fighting mitochondrial diseases.
Viscomi Carlo et al. Journal of internal medicine 2020 Feb
- Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
Liu Hong-Yan et al. Scientific reports 2019 Dec 9(1) 19365
- What the Cardiologist Should Know About Mitochondrial Cardiomyopathy?
St-Pierre Guillaume et al. The Canadian journal of cardiology 2019 35(2) 221-224
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