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Journal of the Neurological Sciences|May 9, 2003
Apolipoprotein E, angiotensin-converting enzyme and alpha-1-antichymotrypsin genotypes are not associated with post-stroke dementiaAna Arpa, Teodoro del Ser, Guillermo Goda, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
The pathogenicity scoring system for mitochondrial tRNA mutations revisitedEmiliano González-Vioque, Belén Bornstein, María Esther Gallardo, et al.
BMC Research Notes|December 10, 2014
Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotypeRamón Zabalza, Anssi Nurminen, Laurie S Kaguni, et al.
European Journal of Biochemistry|October 14, 2004
Expression of the Drosophila melanogaster ATP synthase alpha subunit gene is regulated by a transcriptional element containing GAF and Adf-1 binding sitesAna Talamillo, Miguel Angel Fernández-Moreno, Francisco Martínez-Azorín, et al.
Journal of the Neurological Sciences|March 1, 2015
Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma geneManuel Delgado-Alvarado, Patricia de la Riva, Haritz Jiménez-Urbieta, et al.
Medicina Clinica|June 26, 2010
[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]Ignacio J Posada, María Esther Gallardo, Cristina Domínguez, et al.
Revista Espanola De Cardiologia|March 29, 2011
[Familial approach in hereditary transthyretin cardiac amyloidosis]Pablo García-Pavía, Patricia Avellana, Belén Bornstein, et al.
Human Mutation|February 22, 2002
The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell linesBelén Bornstein, Jose Antonio Mas, Miguel Angel Fernández-Moreno, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.
Archives of Neurology|January 13, 2006
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish populationEmiliano González-Vioque, Alberto Blázquez, Daniel Fernández-Moreira, et al.
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