A novel mitochondrial tRNA^Phe mutation causes MERRF syndromeMANCUSO, M; FILOSTO, M; MOOTHA, V. K et al.Neurology. 2004, Vol 62, Num 11, pp 2119-2121, issn 0028-3878, 3 p.Article

Anesthetic management of a patient with MERRF syndromeVILELA, Hugo; GARCIA-FERNANDEZ, Javier; PARODI, Elba et al.Paediatric anaesthesia (Paris). 2005, Vol 15, Num 1, pp 77-79, issn 1155-5645, 3 p.Article

Antimyoclonic effect of levetiracetam in MERRF syndromeMANCUSO, Michelangelo; GALLI, Renato; PIZZANELLI, Chiara et al.Journal of the neurological sciences. 2006, Vol 243, Num 1-2, pp 97-99, issn 0022-510X, 3 p.Article

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cellsKOLESNIKOVA, Olga A; ENTELIS, Nina S; JACQUIN-BECKER, Clarisse et al.Human molecular genetics (Print). 2004, Vol 13, Num 20, pp 2519-2534, issn 0964-6906, 16 p.Article

MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genesNAKAMURA, M; YABE, I; SUDO, A et al.Journal of medical genetics. 2010, Vol 47, Num 10, pp 659-664, issn 0022-2593, 6 p.Article

Spasmodic dysphonia in a patient with the a to G transition at nucleotide 8344 in mitochondrial DNAYING PENG; CRUMLEY, Roger; RINGMAN, John M et al.Movement disorders. 2003, Vol 18, Num 6, pp 716-718, issn 0885-3185, 3 p.Article

Peripheral neuropathy in mitochondrial encephalomyopathiesCHU, C.-C; HUANG, C.-C; FANG, W et al.European neurology. 1997, Vol 37, Num 2, pp 110-115, issn 0014-3022Article

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. CommentaryJACOBS, H. T; HOLT, I. J; KLOPSTOCK, T et al.Human molecular genetics (Print). 2000, Vol 9, Num 4, pp 463-475, issn 0964-6906, 12 p.Article

Immunohistochemical demonstration of spinal ventral horn cells involvement in a case of myoclonus epilepsy with ragged red fibers (MERRF)SPARACO, M; CAVALLARO, T; ROSSI, G et al.Clinical neuropathology. 2000, Vol 19, Num 4, pp 200-207, issn 0722-5091Article

Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletionsBLUMENTHAL, D. T; SHANSKE, S; SCHOCHET, S. S et al.Neurology. 1998, Vol 50, Num 2, pp 524-525, issn 0028-3878Article

Myoclonus epilepsy associated with ragged-red fibers : A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA^Lys in two familiesOZAWA, M; NISHINO, I; HORAI, S et al.Muscle & nerve. 1997, Vol 20, Num 3, pp 271-278, issn 0148-639XArticle

Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF) : a single-photon emission computed tomographic (SPECT) and electrophysiological studyTANAKA, S; OSARI, S.-I; OZAWA, M et al.Brain & development (Tokyo. 1979). 1997, Vol 19, Num 3, pp 205-208, issn 0387-7604Article

Les encéphalomyopathies mitochondriales : Pathologie mitochondriales = Mitochondrial encephalomyopathies : Mitochondrial diseasesMIKOL, Jacqueline; POLIVKA, Marc.Annales de pathologie (Paris). 2005, Vol 25, Num 4, pp 282-291, issn 0242-6498, 10 p.Article

Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseasesFILOSTO, Massimiliano; TONIN, Paola; VATTEMI, Gaetano et al.Acta neuropathologica. 2002, Vol 103, Num 3, pp 215-220, issn 0001-6322Article

Clinical features and genetics of myoclonic epilepsy with ragged red fibersDIMAURO, Salvatore; HIRANO, Michio; KAUFMANN, Petra et al.Advances in neurology. 2002, Vol 89, pp 217-229, issn 0091-3952, 13 p.Conference Paper

Audiological findings in patients with myoclonic epilepsy associated with ragged-red fibresTSUTSUMI, Takeshi; NISHIDA, Hiroaki; NOGUCHI, Yoshihiro et al.Journal of laryngology and otology. 2001, Vol 115, Num 10, pp 777-781, issn 0022-2151Article

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNAGAMEZ, J; PLAYAN, A; ANDREU, A. L et al.Neurology. 1998, Vol 51, Num 1, pp 258-260, issn 0028-3878Article

The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections : Revisiting the pastSANTORELLI, F. M; TANJI, K; SHANSKE, S et al.Annals of neurology. 1998, Vol 44, Num 6, pp 962-964, issn 0364-5134Article

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunctionTANJI, Kurenai; GAMEZ, Josep; CERVERA, Carles et al.Acta neuropathologica. 2003, Vol 105, Num 1, pp 69-75, issn 0001-6322, 7 p.Article

MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutationMONGINI, T; DORIGUZZI, C; CHIADO-PIAT, L et al.Clinical neuropathology. 2002, Vol 21, Num 2, pp 72-76, issn 0722-5091Article

Thalamic activation in photic myoclonusTRÄFF, J; PETROVIC, P; INGVAR, M et al.Acta neurologica scandinavica. 2000, Vol 101, Num 5, pp 339-343, issn 0001-6314Conference Paper

Coenzyme Q₁₀ treatment in mitochondrial encephalomyopathies : Short-term double-blind, crossover studyCHEN, R.-S; HUANG, C.-C; CHU, N.-S et al.European neurology. 1997, Vol 37, Num 4, pp 212-218, issn 0014-3022Article