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Neurology
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Mitochondrial disorders

Citations 61-70 of 92 total displayed.

Past content (since Mar 2001):

ARTICLES
Autosomal dominant acute necrotizing encephalopathy
D. E. Neilson, R. M. Eiben, S. Waniewski, C. L. Hoppel, M. E. Varnes, B. A. Bangert, M. Wiznitzer, M. L. Warman, and D. S. Kerr
Neurology 2003; 61: 226-230. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
Marco Crimi, Sara Galbiati, Isabella Moroni, Andreina Bordoni, Maria Paola Perini, Eleonora Lamantea, Monica Sciacco, Massimo Zeviani, Ida Biunno, Maurizio Moggio, Guglielmo Scarlato, and Giacomo Pietro Comi
Neurology 2003; 60: 1857-1861. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
A. Agostino, L. Valletta, P.F. Chinnery, G. Ferrari, F. Carrara, R.W. Taylor, A.M. Schaefer, D.M. Turnbull, V. Tiranti, and M. Zeviani
Neurology 2003; 60: 1354-1356. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
M. Deschauer, C. Bamberg, D. Claus, S. Zierz, D.M. Turnbull, and R.W. Taylor
Neurology 2003; 60: 1357-1359. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness
M. Crimi, S. Galbiati, M.P. Perini, A. Bordoni, G. Malferrari, M. Sciacco, I. Biunno, S. Strazzer, M. Moggio, N. Bresolin, and G.P. Comi
Neurology 2003; 60: 1200-1203. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Reversion of mtDNA depletion in a patient with TK2 deficiency
M.R. Vilà, T. Segovia-Silvestre, J. Gámez, A. Marina, A.B. Naini, A. Meseguer, A. Lombès, E. Bonilla, S. DiMauro, M. Hirano, and A.L. Andreu
Neurology 2003; 60: 1203-1205. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Cerebellar ataxia and coenzyme Q10 deficiency
C. Lamperti, A. Naini, M. Hirano, D.C. De Vivo, E. Bertini, S. Servidei, M. Valeriani, D. Lynch, B. Banwell, M. Berg, T. Dubrovsky, C. Chiriboga, C. Angelini, E. Pegoraro, and S. DiMauro
Neurology 2003; 60: 1206-1208. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency
P. C. Goldenberg, R. D. Steiner, L. S. Merkens, T. Dunaway, R. A. Egan, E. A. Zimmerman, G. Nesbit, B. Robinson, and N. G. Kennaway
Neurology 2003; 60: 865-868. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation
L. M. Cupini, R. Massa, R. Floris, G. Manenti, B. Martini, A. Tessa, G. Nappi, G. Bernardi, and F. M. Santorelli
Neurology 2003; 60: 717-719. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Myoglobinuria and COX deficiency in a patient taking cerivastatin and gemfibrozil
J. Arenas, M.A. Fernández-Moreno, J.A. Molina, V. Fernández, P. del Hoyo, Y. Campos, P. Calvo, M.A. Martín, A. García, T. Moreno, A. Martínez-Salio, B. Börnstein, F. Bermejo, A. Cabello, and R. Garesse
Neurology 2003; 60: 124-126. [Abstract] [Full text] [PDF]  

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* Related collections:
 Genetics
 All Genetics
 Neurofibromatosis
 Other neurocutaneous disorders
 Genetic linkage
 Association studies in genetics
 Gene expression studies
 Gene therapy
 Mitochondrial disorders
 Ion channel gene defects
 Spinocerebellar ataxia
 Trinucleotide repeat diseases
 Chromosomes


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