S Shanske
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Explore the profile of S Shanske including associated specialties, affiliations and a list of published articles.
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Articles
141
Citations
3261
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Recent Articles
1.
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...
2.
Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, et al.
Fetal Diagn Ther
. 2009 Mar;
25(2):177-82.
PMID: 19321960
We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To...
3.
Venditti C, Harris M, Huff D, Peterside I, Munson D, Weber H, et al.
J Inherit Metab Dis
. 2004 Oct;
27(6):735-9.
PMID: 15505378
Biventricular hypertrophy was noted at 24 weeks' gestation in a fetus with isolated cytochrome-c oxidase (COX) deficiency. Shock, caused by hypertrophic cardiomyopathy and severe pulmonary hypertension, led to the patient's...
4.
Deschauer M, Chinnery P, Schaefer A, Turnbull D, Taylor R, Zierz S, et al.
J Neurol Neurosurg Psychiatry
. 2004 Jul;
75(8):1204-5.
PMID: 15258237
No abstract available.
5.
Kaufmann P, Shungu D, Sano M, Jhung S, Engelstad K, Mitsis E, et al.
Neurology
. 2004 Apr;
62(8):1297-302.
PMID: 15111665
Objective: To evaluate the role of chronic cerebral lactic acidosis in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Methods: The authors studied 91 individuals from 34 families with MELAS...
6.
Nishigaki Y, Bonilla E, Shanske S, Gaskin D, DiMauro S, Hirano M
Neurology
. 2002 Apr;
58(8):1282-5.
PMID: 11971101
A 42-year-old woman presented with myopathy and without a family history of neuromuscular disorder. Muscle biopsy showed ragged red fibers and reduced activities of mitochondrial respiratory chain enzyme complexes I,...
7.
Shanske A, Shanske S, DiMauro S
Arch Pediatr Adolesc Med
. 2001 Nov;
155(11):1210-6.
PMID: 11695929
In the past 13 years, a new chapter of human genetics, "mitochondrial genetics", has opened up and is becoming increasingly important in differential diagnosis. Although the clinical manifestations of disorders...
8.
Karadimas C, Tanji K, Geremek M, Chronopoulou P, Vu T, Krishna S, et al.
J Child Neurol
. 2001 Jul;
16(7):531-3.
PMID: 11453453
We describe a 5-year-old child with hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. Mitochondrial DNA analysis showed a heteroplasmic A5814G point mutation in the tRNA(Cys) gene. The mutational load was...
9.
Raben N, Danon M, Lu N, Lee E, Shliselfeld L, Skurat A, et al.
Neurology
. 2001 Jun;
56(12):1739-45.
PMID: 11425943
Background: The authors previously reported the generation of a knockout mouse model of Pompe disease caused by the inherited deficiency of lysosomal acid alpha-glucosidase (GAA). The disorder in the knockout...
10.
Musumeci O, Naini A, Slonim A, Skavin N, Hadjigeorgiou G, Krawiecki N, et al.
Neurology
. 2001 Apr;
56(7):849-55.
PMID: 11294920
Objective: To describe a clinical syndrome of cerebellar ataxia associated with muscle coenzyme Q10 (CoQ10) deficiency. Background: Muscle CoQ10 deficiency has been reported only in a few patients with a...