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Shanske, Sara
103
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Online (103)
Mediatypes
Articles (Online) (95)
OpenAccess-fulltext (8)
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1
Mitochondrial etiologies of chronic pseudo-obstruction and ..:
Goldstein, Amy
;
Bay, Carolyn
;
Sowry, Ellen
...
Mitochondrion. 13 (2013) 6 - p. 904-905 , 2013
Link:
https://doi.org/10.1016/..
?
2
Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosi..:
Shanske, Sara
;
Naini, Ali
;
Chmait, Ramen H.
...
Journal of Child Neurology. 28 (2012) 2 - p. 264-268 , 2012
Link:
https://doi.org/10.1177/..
?
3
Slowly progressive encephalopathy with hearing loss due to ..:
Çoku, Jorida
;
Shanske, Sara
;
Mehrazin, Mahsa
...
Journal of the Neurological Sciences. 290 (2010) 1-2 - p. 166-168 , 2010
Link:
https://doi.org/10.1016/..
?
4
Longitudinal changes of mtDNA A3243G mutation load and leve..:
Mehrazin, Mahsa
;
Shanske, Sara
;
Kaufmann, Petra
...
American Journal of Medical Genetics Part A. 149A (2009) 4 - p. 584-587 , 2009
Link:
https://doi.org/10.1002/..
?
5
Mitochondrial DNA depletion syndrome due to mutations in th..:
Bornstein, Belén
;
Area, Estela
;
Flanigan, Kevin M.
...
Neuromuscular Disorders. 18 (2008) 6 - p. 453-459 , 2008
Link:
https://doi.org/10.1016/..
?
6
Mitochondrial dysfunction inmutmethylmalonic acidemia:
Chandler, Randy J.
;
Zerfas, Patricia M.
;
Shanske, Sara
...
The FASEB Journal. 23 (2008) 4 - p. 1252-1261 , 2008
Link:
https://doi.org/10.1096/..
?
7
A novel tRNAVal mitochondrial DNA mutation causing MELAS:
Tanji, Kurenai
;
Kaufmann, Petra
;
Naini, Ali B.
...
Journal of the Neurological Sciences. 270 (2008) 1-2 - p. 23-27 , 2008
Link:
https://doi.org/10.1016/..
?
8
Mitochondrial myopathy associated with a novel mutation in ..:
Pancrudo, Jacklyn
;
Shanske, Sara
;
Coku, Jorida
...
Neuromuscular Disorders. 17 (2007) 8 - p. 651-654 , 2007
Link:
https://doi.org/10.1016/..
?
9
Mitochondrial Encephalomyopathy Due to a Novel Mutation in ..:
Pancrudo, Jacklyn
;
Shanske, Sara
;
Bonilla, Eduardo
...
Journal of Child Neurology. 22 (2007) 7 - p. 858-862 , 2007
Link:
https://doi.org/10.1177/..
?
10
Infantile cardiomyopathy caused by the T14709C mutation in ..:
Van Hove, Johan L. K.
;
Freehauf, Cynthia
;
Miyamoto, Shelley
...
European Journal of Pediatrics. 167 (2007) 7 - p. 771-776 , 2007
Link:
https://doi.org/10.1007/..
?
11
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in ..:
Samanich, Joy
;
Lowes, Christina
;
Burk, Robert
...
American Journal of Medical Genetics Part A. 143A (2007) 8 - p. 830-838 , 2007
Link:
https://doi.org/10.1002/..
?
12
Unusual Clinical Presentations in Four Cases of Leigh Disea..:
Tay, Stacey K.H.
;
Sacconi, Sabrina
;
Ohran Akman, H.
...
Journal of Child Neurology. 20 (2005) 8 - p. 670-674 , 2005
Link:
https://doi.org/10.1177/..
?
13
Clinical and Genetic Features in Two Families With MELAS an..:
Tay, Stacey K. H.
;
Shanske, Sara
;
Crowe, Carol
...
Journal of Child Neurology. 20 (2005) 2 - p. 142-146 , 2005
Link:
https://doi.org/10.1177/..
?
14
Hypocitrullinemia in patients with MELAS: an insight into t..:
Naini, Ali
;
Kaufmann, Petra
;
Shanske, Sara
...
Journal of the Neurological Sciences. 229-230 (2005) - p. 187-193 , 2005
Link:
https://doi.org/10.1016/..
?
15
Benign course of glycogen storage disease type IIb in two b..:
Slonim, Alfred E.
;
Bulone, Linda
;
Minikes, Jennifer
...
Muscle & Nerve. 33 (2005) 4 - p. 571-574 , 2005
Link:
https://doi.org/10.1002/..
1-15