Mitochondrial disorders

Citations 81-90 of 92 total displayed.

Past content (since Mar 2001):

NEUROIMAGES
MNGIE: Diarrhea and leukoencephalopathy

P. Labauge, R. Durant, G. Castelnovo, and A. Dubois
Neurology 2002; 58: 1862. [Full text] [PDF]  

ARTICLES
A forearm exercise screening test for mitochondrial myopathy

Tina D. Jensen, Pedram Kazemi-Esfarjani, Elwira Skomorowska, and John Vissing
Neurology 2002; 58: 1533-1538. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA^Gly

Y. Nishigaki, E. Bonilla, S. Shanske, D. A. Gaskin, S. DiMauro, and M. Hirano
Neurology 2002; 58: 1282-1285. [Abstract] [Full text] [PDF]  

ARTICLES
Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiency

M. J. Roef, D.-J. Reijngoud, J. A.L. Jeneson, R. Berger, and K. de Meer
Neurology 2002; 58: 1088-1093. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Effects of L-arginine on the acute phase of strokes in three patients with MELAS

Y. Koga, M. Ishibashi, I. Ueki, S. Yatsuga, R. Fukiyama, Y. Akita, and T. Matsuishi
Neurology 2002; 58: 827-828. [Full text] [PDF]  

BRIEF COMMUNICATIONS
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

L. Napoli, A. Bordoni, M. Zeviani, G. M. Hadjigeorgiou, M. Sciacco, V. Tiranti, A. Terentiou, M. Moggio, A. Papadimitriou, G. Scarlato, and G. P. Comi
Neurology 2001; 57: 2295-2298. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
CPEO associated with a single nucleotide deletion in the mitochondrial tRNA^Tyr gene

Thomas Raffelsberger, Walter Rossmanith, Helga Thaller-Antlanger, and Reginald E. Bittner
Neurology 2001; 57: 2298-2301. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
A mutation in mt tRNALeu^(UUR) causing a neuropsychiatric syndrome with depression and cataract

M. Jaksch, H. Lochmuller, F. Schmitt, B. Volpel, B. Obermaier–Kusser, and R. Horvath
Neurology 2001; 57: 1930. [Full text] [PDF]  

ARTICLES
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

M. Jaksch, R. Horvath, N. Horn, D. P. Auer, C. Macmillan, J. Peters, K.–D. Gerbitz, I. Kraegeloh–Mann, A. Muntau, V. Karcagi, R. Kalmanchey, H. Lochmuller, E. A. Shoubridge, and P. Freisinger
Neurology 2001; 57: 1440-1446. [Abstract] [Full text] [PDF]  

ARTICLES
Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family

P. de la Peña, B. Bornstein, P. del Hoyo, M. A. Fernández–Moreno, M. A. Martín, Y. Campos, C. Gómez–Escalonilla, J. A. Molina, A. Cabello, J. Arenas, and R. Garesse
Neurology 2001; 57: 1235-1238. [Abstract] [Full text] [PDF]  

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