Results 31 to 40 of about 8,951 (213)

The consequences of nuclear transfer for mammalian foetal development and offspring survival : a mitochondrial DNA perspective [PDF]

, 2004
Review of the articleThe introduction of nuclear transfer (NT) and other technologies that involve embryo reconstruction require us to reinvestigate patterns of mitochondrial DNA (mtDNA) transmission, transcription and replication.
Anderson, Barrientos, Barrientos, Barritt, Barritt, Birky, Birky, Blok, Boiani, Bortvin, Boulet, Brenner, Campbell, Cibelli, Clark, Clayton, Cohen, Cormier, Cummins, Davis, Do, Dunbar, Evans, Fisher, Gaertig, Gahan, Giles, Goto, Gyllensten, Hauswirth, Hayakawa, Hiendleder, Hoeh, Holt, Howell, Hsieh, Huo, Inoue, Jansen, Jenuth, Kaneda, Kaukonen, King, King, Laipis, Larsson, Larsson, Lazzari, Magnusson, Maher, Mandel, Marchington, Michaels, Moraes, Moyes, Pik  , Poulton, Poulton, Reik, Reynier, Saada, Schon, Schutz, Schwartz, Shi, Shitara, Shoffner, Smith, St. John, Steinborn, Steinborn, Sutovsky, Takeda, Takeda, Torroni, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Zhang   +80 more
core   +1 more source

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy [PDF]

, 2016
Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP).
Boschetti, E, Caporali, L, Capristo, M, Carelli, V, Casali, C, Cenacchi, G, D'Alessandro, R, D'Angelo, R, DE GIORGIO, Roberto, Gramegna, Ll, Lodi, R, Pinna, Ad, Pironi, L, Rinaldi, R, Stanzani, M, Tonon, C   +15 more
core   +1 more source

Non-epileptic myoclonus and mitochondrial encephalomyopathy

Arquivos de Neuro-Psiquiatria, 1989
Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arhythmic myoclonus, an arthresthesic ...
A. Cukiert, F. G. M. Naylor, H. B. Scapolan, M. M. Vilela, F. S. Aloe, J. O. Siffert, Ana M. Tsanaglis, Monica Haddad, Teresa C. Machado, Mary Carvalho-Alegro, J. A. Levy, L. Marques-Assis   +11 more
doaj   +1 more source

The Emerging Role of Disturbed CoQ Metabolism in Nonalcoholic Fatty Liver Disease Development and Progression [PDF]

, 2015
Although non-alcoholic fatty liver disease (NAFLD), characterised by the accumulation of triacylglycerol in the liver, is the most common liver disorder, the causes of its development and progression to the more serious non-alcoholic steatohepatitis ...
Elena Bravo, Kathleen Botham, Mariarosaria Napolitano, Sumimoto   +3 more
core   +3 more sources

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +3 more sources

Modeling mitochondrial encephalomyopathy in Drosophila

Neurobiology of Disease, 2010
Mitochondrial encephalomyopathies are disturbingly complex and devastating diseases, reflecting the underlying importance of the affected organelle.
Michael J. Palladino
doaj   +1 more source

Mitochondrial disease in children : from clinical presentation to genetic background [PDF]

, 2017
Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain.
Naess, Karin
core   +1 more source

Mitochondrial myopathy and comorbid major depressive disorder. effectiveness of dTMS on gait and mood symptoms [PDF]

, 2015
Background: Mitochondrial myopathies (MMs) often present with leukoencephalopathy and psychiatric symptoms, which do not respond to or worsen with psychiatric drugs.
Angeletti, Gloria, Brugnoli, Roberto, Callovini, G, Dacquino, Claudia, Danese, E, DEL CASALE, Antonio, Ferracuti, Stefano, Ferri, Vr, Gentile, Giovanna, Girardi, Paolo, Janiri, D, Kotzalidis, Georgios, Manfredi, G, Raccah, Rn, Rapinesi, Chiara, Scatena, P, Serata, D, Simmaco, Maurizio, Zangen, A   +18 more
core   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome

Journal of Pediatric and Neonatal Individualized Medicine
Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous.
Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar   +11 more
doaj   +1 more source