Search Results - "DIMAURO, S"

New insights in the field of muscle glycogenoses by Oldfors, Anders, DiMauro, Salvatore

“…This review highlights recent contributions regarding clinical heterogeneity, pathogenic mechanisms, therapeutic trials, and animal models of the muscle…”
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Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype by KAUFMANN, P, ENGELSTAD, K, SANO, M, MAO, X, HIRANO, M, SHUNGU, D. C, DIMAURO, S, DE VIVO, D. C, WEI, Y, KULIKOVA, R, OSKOUI, M, SPROULE, D. M, BATTISTA, V, KOENIGSBERGER, D. Y, PASCUAL, J. M, SHANSKE, S

“…To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are…”
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Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome) by Leigh, P N, Al-Sarraj, S, DiMauro, S

“…[...]he was proud of his role in identifying the disease bearing his name. LS can now be suspected and diagnosed in life through the biochemical profile of…”
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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 by Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain by DiMauro, S, Garone, C

“…Summary Two major groups of inborn errors of energy metabolism are reviewed –glycogenoses and defects of the mitochondrial respiratory chain – to see how often…”
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IN58-TH-03 Myopathy in metabolic disorders (carbohydrate and lipid) by DiMauro, S

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Dichloroacetate causes toxic neuropathy in MELAS : A randomized, controlled clinical trial by KAUFMANN, P, ENGELSTAD, K, PASCUAL, J. M, HIRANO, M, STACPOOLE, P. W, DIMAURO, S, DE VIVO, D. C, WEI, Y, JHUNG, S, SANO, M. C, SHUNGU, D. C, MILLAR, W. S, HONG, X, GOOCH, C. L, MAO, X

“…To evaluate the efficacy of dichloroacetate (DCA) in the treatment of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)…”
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Human CoQ10 deficiencies by Quinzii, C. M., López, L. C., Naini, A., DiMauro, S., Hirano, M.

“…Coenzyme Q10 (CoQ10 or ubiquinone) is a lipid‐soluble component of virtually all cell membranes and has multiple metabolic functions. A major function of CoQ10…”
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Infantile encephalomyopathy and nephropathy with CoQ10 deficiency : A CoQ10-responsive condition by SALVIATI, L, SACCONI, S, NAINI, A. B, NAVAS, P, DIMAURO, S, MONTINI, G, MURER, L, ZACCHELLO, G, FRANCESCHINI, L, LAVERDA, A. M, BASSO, G, QUINZII, C, ANGELINI, C, HIRANO, M

“…Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a…”
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Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation by QUINZII, C. M, KATTAH, A. G, NAINI, A, AKMAN, H. O, MOOTHA, V. K, DIMAURO, S, HIRANO, M

“…Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these…”
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Clinicopathological features of genetically confirmed Danon disease by SUGIE, K, YAMAMOTO, A, LAMPERTI, C, SAITOH, S, BYRNE, E, DIMAURO, S, NONAKA, I, HIRANO, M, NISHINO, I, MURAYAMA, K, OH, S. J, TAKAHASHI, M, MORA, M, RIGGS, J. E, COLOMER, J, ITURRIAGA, C, MELONI, A

“…Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. To define the clinicopathologic features of Danon disease. The features…”
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Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE by HIRANO, M, MARTI, R, SCHWARTZ, J, HAWKS, R. G, MARTONE, D. L, CAIRO, M. S, DIMAURO, S, STANZANI, M, GARVIN, J. H, SAVAGE, D. G, CASALI, C, TADESSE, S, ULDRICK, T, FINE, B, ESCOLAR, D. M, VALENTINE, M. L, NISHINO, I, HESDORFFER, C

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a multisystemic autosomal recessive disease due to primary thymidine phosphorylase (TP)…”
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Muscle phosphorylase kinase deficiency: A neutral metabolic variant or a disease? by PREISLER, N, ORNGREEN, M. C, ECHANIZ-LAGUNA, A, LAFORET, P, LONSDORFER-WOLF, E, DOUTRELEAU, S, GENY, B, AKMAN, H. O, DIMAURO, S, VISSING, J

“…To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen…”
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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) by BRUNO, C, VAN DIGGELEN, O. P, MORA, M, TONOLI, E, MASCELLI, S, TRAVERSO, M, PASQUINI, E, BADO, M, VILARINHO, L, VAN NOORT, G, MOSCA, F, DIMAURO, S, CASSANDRINI, D, ZARA, F, MINETTI, C, GIMPELEV, M, GIUFFRE, B, DONATI, M. A, INTROVINI, P, ALEGRIA, A, ASSERETO, S, MORANDI, L

“…Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and…”
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Cerebral lactic acidosis correlates with neurological impairment in MELAS by KAUFMANN, P, SHUNGU, D. C, DE VIVO, D. C, SANO, M. C, JHUNG, S, ENGELSTAD, K, MITSIS, E, MAO, X, SHANSKE, S, HIRANO, M, DIMAURO, S

“…To evaluate the role of chronic cerebral lactic acidosis in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). The authors…”
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Cerebellar ataxia and coenzyme Q10 deficiency by LAMPERTI, C, NAINI, A, DUBROVSKY, T, CHIRIBOGA, C, ANGELINI, C, PEGORARO, E, DIMAURO, S, HIRANO, M, DE VIVO, D. C, BERTINI, E, SERVIDEI, S, VALERIANI, M, LYNCH, D, BANWELL, B, BERG, M

“…The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients…”
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Coenzyme Q10 deficiency and isolated myopathy by HORVATH, R, SCHNEIDERAT, P, LOCHMÜLLER, H, SCHOSER, B. G. H, GEMPEL, K, NEUEN-JACOB, E, PLÖGER, H, MÜLLER-HÖCKER, J, PONGRATZ, D. E, NAINI, A, DIMAURO, S

“…Three unrelated, sporadic patients with muscle coenzyme Q10 (CoQ10) deficiency presented at 32, 29, and 6 years of age with proximal muscle weakness and…”
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Familial cerebellar ataxia with muscle coenzyme Q10 deficiency by MUSUMECI, O, NAINI, A, DE VIVO, D. C, HIRANO, M, DIMAURO, S, SLONIM, A. E, SKAVIN, N, HADJIGEORGIOU, G. L, KRAWIECKI, N, WEISSMAN, B. M, TSAO, C.-Y, MENDELL, J. R, SHANSKE, S

“…To describe a clinical syndrome of cerebellar ataxia associated with muscle coenzyme Q10 (CoQ10) deficiency. Muscle CoQ10 deficiency has been reported only in…”
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POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness by MANCUSO, M, FILOSTO, M, BELLAN, M, LIGUORI, R, MONTAGNA, P, BARUZZI, A, DIMAURO, S, CARELLI, V

“…The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an…”
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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? by ORNGREEN, M. C, SCHELHAAS, H. J, JEPPESEN, T. D, AKMAN, H. O, WEVERS, R. A, ANDERSEN, S. T, TER LAAK, H. J, VAN DIGGELEN, O. P, DIMAURO, S, VISSING, J

“…It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism,…”
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