Salvatore DiMauro
Dimauro, Salvatore
DiMauro, S. (Salvatore)
DiMauro, Salvatore, 19..-...., neurologue
Dimauro, S.
VIAF ID: 9910422 (Personal)
Permalink: http://viaf.org/viaf/9910422
Preferred Forms
-
-
- 100 1 _ ‡a DiMauro, S. ‡q (Salvatore)
-
-
- 100 1 _ ‡a DiMauro, Salvatore, ‡d 19..-...., ‡c neurologue
-
- 200 _ | ‡a Dimauro ‡b Salvatore
- 100 1 _ ‡a Dimauro, S. (sparse)
- 100 1 _ ‡a Dimauro, Salvatore
- 100 0 _ ‡a Salvatore DiMauro
4xx's: Alternate Name Forms (10)
Works
Title | Sources |
---|---|
L-Carnitine and its role in medicine : from function to therapy | |
Il DNA mitocondriale in patologia umana, c1993: | |
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly | |
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation | |
Historical perspective on mitochondrial medicine | |
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy | |
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome | |
Insulin sensitivity in Belgian horses with polysaccharide storage myopathy | |
Leber hereditary optic neuropathy: biochemical lights in a blurry scenario | |
Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature | |
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease | |
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. | |
Medicinal and Genetic Approaches to the Treatment of Mitochondrial Disease | |
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation | |
Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects | |
Mitochondrial disorders in neurology | |
Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy | |
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript | |
Mitochondrial DNA in human pathology : [symposium, 1991, Venice] | |
Mitochondrial DNA mutation load: chance or destiny? | |
Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture | |
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation | |
The molecular and genetic basis of neurological disease | |
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy | |
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families | |
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion | |
Muscle coenzyme Q10 level in statin-related myopathy | |
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes | |
Mutant COQ2 in multiple-system atrophy | |
Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy | |
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene | |
Myopathies | |
Myopathy and parkinsonism in phosphoglycerate kinase deficiency | |
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene | |
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis | |
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene | |
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome | |
New insights in the field of muscle glycogenoses | |
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease | |
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions | |
A novel mouse model that recapitulates adult-onset glycogenosis type 4 | |
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). | |
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes | |
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome | |
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy | |
Phospholipid abnormalities in children with Barth syndrome | |
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family. | |
A polymorphic polymerase | |
Primary coenzyme Q10 deficiency and the brain. | |
Progressive cavitating leukoencephalopathy: a novel childhood disease | |
Psychiatric symptoms in a patient with the clinical features of MELAS. | |
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation | |
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency | |
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene | |
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene | |
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia | |
Therapeutic prospects for mitochondrial disease | |
TMEM14C is required for erythroid mitochondrial heme metabolism | |
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations. | |
VMA21 deficiency: a case of myocyte indigestion | |
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck |