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American Journal of Human Genetics|May 1, 1994
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiencyS Tsujino, S Servidei, P Tonin, et al.Neuromuscular Disorders : NMD|July 1, 1995
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both lociS Tsujino, S Shanske, J E Carroll, et al.Journal of the Neurological Sciences|September 1, 1991
Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathiesF Andreetta, H J Tritschler, E A Schon, et al.Chest|March 1, 1992
Respiratory failure revealing mitochondrial myopathy in adultsD Cros, S Palliyath, S DiMauro, et al.Biofactors (Oxford, England)|December 20, 2008
Human CoQ10 deficienciesC M Quinzii, L C López, A Naini, et al.Journal of Child Neurology|April 1, 1990
Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosisG Pintos-Morell, R Haas, C Prodanos, et al.Journal of the Neurological Sciences|December 14, 1999
Prospective study of palliative care in ALS: choice, timing, outcomesS M Albert, P L Murphy, M L Del Bene, et al.American Journal of Human Genetics|December 1, 1992
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)G Silvestri, C T Moraes, S Shanske, et al.Annals of Neurology|October 1, 1994
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patientsS Tsujino, S Shanske, A K Brownell, et al.Archives of Neurology|July 1, 1976
Neuromuscular disorder associated with a defect in mitochondrial energy supplyD L Schotland, S DiMauro, E Bonilla, et al.Pageof 44