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Annals of Neurology|January 10, 2002
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentationsP Corona, E Lamantea, M Greco, et al.Gene|May 15, 1988
Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidaseM Zeviani, S Sakoda, A A Sherbany, et al.American Journal of Human Genetics|December 1, 1990
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant diseaseM Zeviani, N Bresolin, C Gellera, et al.Science (New York, N.Y.)|August 5, 2000
Role of adenine nucleotide translocator 1 in mtDNA maintenanceJ Kaukonen, J K Juselius, V Tiranti, et al.Journal of Inherited Metabolic Disease|August 11, 2004
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutationsB Garavaglia, F Invernizzi, M L Agostoni Carbone, et al.Neurology|May 19, 2006
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathyM Bugiani, S Al Shahwan, E Lamantea, et al.Journal of the Neurological Sciences|April 1, 1995
Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiencyC Antozzi, S Franceschetti, G Filippini, et al.Cell|January 13, 1995
Identification and characterization of a spinal muscular atrophy-determining geneS Lefebvre, L Bürglen, S Reboullet, et al.American Journal of Human Genetics|March 7, 1998
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosidesX Estivill, N Govea, E Barceló, et al.Science (New York, N.Y.)|June 3, 1994
De novo and inherited deletions of the 5q13 region in spinal muscular atrophiesJ Melki, S Lefebvre, L Burglen, et al.Pageof 18