E-LIB Suche - Ergebnisse für: Shanske, Sara

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

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/..

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

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/..

8

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/..

9

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/..

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

Achalasia as the Harbinger of a Novel Mitochondrial Disorde..:

Chelimsky, Gisela ; Shanske, Sara ; Hirano, Michio...
Journal of Pediatric Gastroenterology and Nutrition. 40 (2005) 4 - p. 512-517 , 2005

Link: https://doi.org/10.1097/..

14

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/..

15

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/..