scholarly journals The Myoclonic Epilepsy and Ragged-Red Fiber Mutation Provides New Insights into Human Mitochondrial Function and Genetics

1998 ◽  
Vol 62 (4) ◽  
pp. 745-751 ◽  
Author(s):  
Anne Chomyn
Keyword(s):  
Mitochondrial Function ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fiber

Myoclonic epilepsy and ragged red fiber (MERRF) disease

2020 ◽  
pp. 393-398
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Myoclonic Epilepsy ◽  
Ragged Red Fiber

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

Cell ◽  
1990 ◽  
Vol 61 (6) ◽  
pp. 931-937 ◽  
Author(s):  
John M. Shoffner ◽  
Marie T. Lott ◽  
Angela M.S. Lezza ◽  
Peter Seibel ◽  
Scott W. Ballinger ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fiber

scholarly journals Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation

2018 ◽  
Vol 131 (20) ◽  
pp. 2433-2438 ◽  
Author(s):  
Li-Jun Su ◽  
Yu-Liang Wang ◽  
Tao Han ◽  
Shan Qiao ◽  
Ke-Jun Zang ◽  
...  
Keyword(s):  
Combined Treatment ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fiber

Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA

1993 ◽  
Vol 33 (6) ◽  
pp. 640-645 ◽  
Author(s):  
W. D. Graf ◽  
S. M. Sumi ◽  
M. K. Copass ◽  
L. M. Ojemann ◽  
W. T. Longstreth ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Point Mutation ◽  
Phenotypic Heterogeneity ◽  
Myoclonic Epilepsy ◽  
Ragged Red Fiber

Rigorous swim training impairs mitochondrial function in post-ischaemic rat heart

1997 ◽  
Vol 160 (1) ◽  
pp. 139-148
Author(s):  
S.B. LEICHTWEIS ◽  
C. LEEUWENBURGH ◽  
D. J. PARMELEE ◽  
R. FIEBIG ◽  
L. L. JI
Keyword(s):  
Mitochondrial Function ◽  
Rat Heart

Residual hepatic mitochondrial function assessment through 13C-methionine, 13C-octanoate and 13C-ketoisocaproate breath tests

2001 ◽  
Vol 120 (5) ◽  
pp. A566-A566
Author(s):  
A ARMUZZI ◽  
M ZOCCO ◽  
M CANDELLI ◽  
C DICAMPLI ◽  
E NISTA ◽  
...  
Keyword(s):  
Mitochondrial Function ◽  
Breath Tests ◽  
Function Assessment
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