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Current Molecular Medicine|October 18, 2014
Metabolic Ataxias in AdultsA Antenora, A Filla, F M Santorelli, et al.Journal of Human Genetics|March 18, 2000
Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndromeG De Joanna, F M Santorelli, C Casali, et al.Acta Neurologica Scandinavica|April 19, 2000
OXPHOS and mtDNA alterations in a family with spastic paraparesisF M Santorelli, F Piemonte, R Carrozzo, et al.Neurology|May 1, 1994
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndromeF M Santorelli, S Shanske, K D Jain, et al.Journal of Medical Genetics|July 1, 1997
The mitochondrial A3243G mutation presenting as severe cardiomyopathyL Vilarinho, F M Santorelli, M J Rosas, et al.Biochemical and Biophysical Research Communications|September 23, 1997
Identification of a novel mutation in the mtDNA ND5 gene associated with MELASF M Santorelli, K Tanji, R Kulikova, et al.Biochemical and Biophysical Research Communications|May 8, 1998
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patientF M Santorelli, E Bertini, V Petruzzella, et al.European Journal of Neurology|July 23, 2016
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three familiesA Tessa, R Battini, A Rubegni, et al.Journal of the American College of Cardiology|May 20, 1999
Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acidC Casali, G d'Amati, P Bernucci, et al.Neurology|March 4, 1998
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletionsD T Blumenthal, S Shanske, S S Schochet, et al.Pageof 13