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Human Mutation|October 23, 2001
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndromeS Salvi, C Dionisi-Vici, E Bertini, et al.Pediatric Neurology|February 11, 2000
Clinical and molecular studies in three Portuguese mtDNA T8993G familiesL Vilarinho, E Leão, C Barbot, et al.European Journal of Human Genetics : EJHG|April 21, 2001
Maternally inherited deafness associated with a T1095C mutation in the mDNAA Tessa, A Giannotti, L Tieri, et al.Biochemical and Biophysical Research Communications|August 15, 1995
A novel mtDNA point mutation in maternally inherited cardiomyopathyC Casali, F M Santorelli, G D'Amati, et al.Neurology|November 1, 1996
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletionF M Santorelli, M A Barmada, R Pons, et al.Acta Paediatrica (Oslo, Norway : 1992). Supplement|June 5, 2004
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coliR Carrozzo, T Rizza, S Lucioli, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2016
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56M Masciullo, A Tessa, S Perazza, et al.Neurology|May 1, 1996
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathyS Bohlega, K Tanji, F M Santorelli, et al.European Neurology|May 30, 1998
Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patientsL Vilarinho, F M Santorelli, M L Cardoso, et al.Current Molecular Medicine|October 18, 2014
Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics DivideA Tessa, P S Denora, L Racis, et al.Pageof 13