S DiMauro
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Explore the profile of S DiMauro including associated specialties, affiliations and a list of published articles.
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423
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9230
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Recent Articles
1.
Barca E, Musumeci O, Montagnese F, Marino S, Granata F, Nunnari D, et al.
Clin Genet
. 2016 Jan;
90(2):156-60.
PMID: 26818466
Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the patients. However, CoQ10 deficiency is a...
2.
Leigh P, Al-Sarraj S, DiMauro S
J Neurol Neurosurg Psychiatry
. 2015 Jan;
86(4):363-5.
PMID: 25587071
No abstract available.
3.
Preisler N, Orngreen M, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, et al.
Neurology
. 2012 Jan;
78(4):265-8.
PMID: 22238410
Objective: To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD). Methods: Patient...
4.
DiMauro S, Spiegel R
Acta Myol
. 2011 Nov;
30(2):96-102.
PMID: 22106711
In this selective review, we consider a number of unsolved questions regarding the glycogen storage diseases (GSD). Thus, the pathogenesis of Pompe disease (GSD II) is not simply explained by...
5.
Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule D, et al.
Neurology
. 2011 Nov;
77(22):1965-71.
PMID: 22094475
Objective: To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for...
6.
DiMauro S, Garone C
Semin Fetal Neonatal Med
. 2011 May;
16(4):181-9.
PMID: 21620786
Two major groups of inborn errors of energy metabolism are reviewed -glycogenoses and defects of the mitochondrial respiratory chain - to see how often these disorders present in fetal life...
7.
DiMauro S
Acta Myol
. 2011 Feb;
29(2):333-8.
PMID: 21314015
In this brief review, I have highlighted recent advances in several areas of mitochondrial medicine, including mtDNA-related diseases, mendelian mitochondrial encephalomyopathies, and therapy. The pathogenic mechanisms of mtDNA mutations, especially...
8.
Taratuto A, Akman H, Saccoliti M, Riudavets M, Arakaki N, Mesa L, et al.
Neuromuscul Disord
. 2010 Sep;
20(12):783-90.
PMID: 20833045
The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably...
9.
Garcia-Cazorla A, Wolf N, Serrano M, Perez-Duenas B, Pineda M, Campistol J, et al.
J Inherit Metab Dis
. 2009 Sep;
32(5):618-29.
PMID: 19731074
Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of...
10.
Anderson S, Chung W, Frezzo J, Papp J, Ekstein J, DiMauro S, et al.
J Inherit Metab Dis
. 2008 Dec;
31 Suppl 2:S461-7.
PMID: 19107570
Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an...