mngie

نتایج جستجو برای: mngie

تعداد نتایج: 83 فیلتر نتایج به سال:

The development of anin vitrocerebral organoid model for investigating the pathomolecular mechanisms associated with the central nervous system involvement in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Journal: :Nucleosides, Nucleotides and Nucleic Acids 2018

Correlations of brain 1H-MRS, DTI, and post-mortem findings in patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

2009

C. Tonon D. N. Manners C. Testa E. Malucelli P. Parchi R. Rinaldi R. De Giorgio C. Casali M. Hirano G. Plazzi V. Carelli B. Barbiroli

C. Tonon, D. N. Manners, C. Testa, E. Malucelli, P. Parchi, R. Rinaldi, R. De Giorgio, C. Casali, M. Hirano, G. Plazzi, V. Carelli, B. Barbiroli, and R. Lodi MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna, Italy, Italy, Department of Neurological Sciences, University of Bologna, Neurology Unit, Policlinico S. Orsola-Malpighi, Bologna,...

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Mitochondrial diseases of nuclear origin

2004

Filippo M. Santorelli Enrico Bertini

Keywords Definition Etiology and related clinical characteristics Diagnostic methods Prevalence Inheritance Genetic counseling and prenatal diagnosis Management References Abstract Mitochondrial disorders of nuclear DNA (nDNA) origin include oxidative phosphorylation (OXPHOS) disorders (such as Leigh syndrome, paraganglioma); defects in nuclear-encoded mitochondrial proteins for mtDNA integrity...

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