Inherited mitochondrial disease
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[1] S. Rahman,et al. Natural history of mitochondrial disorders: a systematic review. , 2018, Essays in biochemistry.
[2] J. Rahman,et al. Mitochondrial medicine in the omics era , 2018, The Lancet.
[3] S. Rahman,et al. Recognition, investigation and management of mitochondrial disease , 2017, Archives of Disease in Childhood.
[4] W. Craigen,et al. Mitochondrial DNA maintenance defects. , 2017, Biochimica et biophysica acta. Molecular basis of disease.
[5] S. Rahman,et al. Nuclear Genetic Causes of Leigh and Leigh-Like Syndrome , 2016 .
[6] S. Rahman,et al. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease , 2014, Journal of Inherited Metabolic Disease.
[7] J. Rahman,et al. Mitochondrial DNA-Associated Leigh Syndrome and NARP , 2014 .
[8] S. Rahman,et al. Development of pharmacological strategies for mitochondrial disorders , 2014, British journal of pharmacology.
[9] J. Nunnari,et al. Mitochondrial form and function , 2014, Nature.
[10] Robert W. Taylor,et al. SURF1 deficiency: a multi-centre natural history study , 2013, Orphanet Journal of Rare Diseases.
[11] S. Rahman. Gastrointestinal and hepatic manifestations of mitochondrial disorders , 2013, Journal of Inherited Metabolic Disease.
[12] M. Ashworth,et al. Barth syndrome , 2013, Orphanet Journal of Rare Diseases.
[13] Vamsi K. Mootha,et al. Mitochondrial disorders as windows into an ancient organelle , 2012, Nature.
[14] T. Matsuishi,et al. Molecular pathology of MELAS and L-arginine effects. , 2012, Biochimica et biophysica acta.
[15] J. Nunnari,et al. Mitochondria: In Sickness and in Health , 2012, Cell.
[16] S. Rahman,et al. 176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency , 2012, Neuromuscular Disorders.
[17] W. Martin,et al. The energetics of genome complexity , 2010, Nature.
[18] H. Mandel,et al. Acute infantile liver failure due to mutations in the TRMU gene. , 2009, American journal of human genetics.
[19] Robert W. Taylor,et al. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy , 2009, Brain : a journal of neurology.
[20] S. Rahman,et al. Diagnosis of mitochondrial DNA depletion syndromes , 2008, Archives of Disease in Childhood.
[21] T. Matsuishi,et al. MELAS and L-arginine therapy. , 2007, Mitochondrion.
[22] J. Christodoulou,et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities , 1996, Annals of neurology.
[23] T. Bourgeron,et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. , 1995, Human molecular genetics.