Mitochondrial disorders

Citations 51-60 of 92 total displayed.

Past content (since Mar 2001):

ARTICLES
Cerebral lactic acidosis correlates with neurological impairment in MELAS

P. Kaufmann, D. C. Shungu, M. C. Sano, S. Jhung, K. Engelstad, E. Mitsis, X. Mao, S. Shanske, M. Hirano, S. DiMauro, and D. C. De Vivo
Neurology 2004; 62: 1297-1302. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA^His gene

R. W. Taylor, A. M. Schaefer, M. T. McDonnell, R. K.H. Petty, A. M. Thomas, E. L. Blakely, C. M. Hayes, R. McFarland, and D. M. Turnbull
Neurology 2004; 62: 1420-1423. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Patient homozygous for a recessive POLG mutation presents with features of MERRF

G. Van Goethem, R. Mercelis, A. Löfgren, S. Seneca, C. Ceuterick, J. J. Martin, and C. Van Broeckhoven
Neurology 2003; 61: 1811-1813. [Abstract] [Full text] [PDF]  

ARTICLES
Slowly progressive spread of the stroke-like lesions in MELAS

Takahiro Iizuka, Fumihiko Sakai, Shinichi Kan, and Norihiro Suzuki
Neurology 2003; 61: 1238-1244. [Abstract] [Full text] [PDF]  

EDITORIALS
Nonconvulsive status epilepticus

Peter W. Kaplan
Neurology 2003; 61: 1035-1036. [Full text] [PDF]  

BRIEF COMMUNICATIONS
Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes

Teeratorn Pulkes, Danae Liolitsa, Isabelle P. Nelson, and Michael G. Hanna
Neurology 2003; 61: 1144-1147. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Aggressive confusional state as a clinical manifestation of status epilepticus in MELAS

B. Feddersen, A. Bender, S. Arnold, T. Klopstock, and S. Noachtar
Neurology 2003; 61: 1149-1150. [Full text] [PDF]  

ARTICLES
Remarkable infidelity of polymerase A associated with mutations in POLG1 exonuclease domain

R. Del Bo, A. Bordoni, M. Sciacco, A. Di Fonzo, S. Galbiati, M. Crimi, N. Bresolin, and G. P. Comi
Neurology 2003; 61: 903-908. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

A.-R. Moslemi, M. Tulinius, N. Darin, P. Åman, E. Holme, and A. Oldfors
Neurology 2003; 61: 991-993. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit

V. Petruzzella, G. Di Giacinto, S. Scacco, F. Piemonte, A. Torraco, R. Carrozzo, R. Vergari, C. Dionisi-Vici, D. Longo, A. Tessa, S. Papa, and E. Bertini
Neurology 2003; 61: 1017-1018. [Full text] [PDF]  

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