Overcoming bioethical, legal, and hereditary barriers to mitochondrial replacement therapy in the USA.

Main|Search|PHGKB






Last Posted: Dec 20, 2018

---

• Overcoming bioethical, legal, and hereditary barriers to mitochondrial replacement therapy in the USA.
  Pompei Marybeth et al. Journal of assisted reproduction and genetics 2018 Dec
• Gene Editing: A View Through the Prism of Inherited Metabolic Disorders.
  Davison James et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2018 Apr 24(1) 2-8
• Autosomal-recessive cerebellar ataxias.
  Fogel Brent L et al. Handbook of clinical neurology 2018 147187-209
• Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
  Ogawa Erika et al. Journal of inherited metabolic disease 2017 40(5) 685-693
• Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
  Puusepp Sanna et al. Molecular genetics and metabolism reports 2018 Jun 1580-89
• Mitochondrial DNA transcription and translation: clinical syndromes.
  Boczonadi Veronika et al. Essays in biochemistry 2018 Jul
• Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.
  Nambot S et al. Clinical genetics 2017 Aug 92(2) 188-198
• Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).
  Martins Fábio Tadeu Arrojo et al. Molecular vision 2017 23495-503
• Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
  Plutino Morgane et al. BMC medical genetics 2018 Apr 19(1) 57
• Mitochondrial diseases.
  Davis Ryan L et al. Handbook of clinical neurology 2018 147125-141

more