-
1
-
-
0027722281
-
Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies
-
Matthews PM, Andermann F, Silver K, Karpati G, Arnold DL. Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies. Neurology 1993;43:2484-2490.
-
(1993)
Neurology
, vol.43
, pp. 2484-2490
-
-
Matthews, P.M.1
Andermann, F.2
Silver, K.3
Karpati, G.4
Arnold, D.L.5
-
2
-
-
0027454928
-
Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects
-
Sparaco M, Bonilla E, DiMauro S, Powers JM. Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 1993;52:1-10.
-
(1993)
J Neuropathol Exp Neurol
, vol.52
, pp. 1-10
-
-
Sparaco, M.1
Bonilla, E.2
DiMauro, S.3
Powers, J.M.4
-
3
-
-
0028286006
-
Molecular basis of mitochondrial DNA disease
-
Brown MD, Wallace DC. Molecular basis of mitochondrial DNA disease. J Bioenerg Biomembr 1994;26:273-289.
-
(1994)
J Bioenerg Biomembr
, vol.26
, pp. 273-289
-
-
Brown, M.D.1
Wallace, D.C.2
-
4
-
-
9344252587
-
Familial metabolic disease with clinicopathological findings of both Leigh's disease and adult-type spinocerebellar degeneration
-
Guggenheim MA, Stumpf DA. Familial metabolic disease with clinicopathological findings of both Leigh's disease and adult-type spinocerebellar degeneration. Ann Neurol 1977;2:264-265.
-
(1977)
Ann Neurol
, vol.2
, pp. 264-265
-
-
Guggenheim, M.A.1
Stumpf, D.A.2
-
5
-
-
0025897119
-
Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
-
Howell N, Kubacka I, Xu M, McCullough DA. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 1991;48:935-942.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 935-942
-
-
Howell, N.1
Kubacka, I.2
Xu, M.3
McCullough, D.A.4
-
7
-
-
0027288377
-
(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF): Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
-
(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF): relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993;116:617-632.
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
-
8
-
-
0027190874
-
Clinical features associated with the A > G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
-
Silvestri G, Ciafaloni E, Santorelli FM, et al. Clinical features associated with the A > G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993;43:1200-1206.
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, E.2
Santorelli, F.M.3
-
9
-
-
0027382862
-
i sites and the heme prosthetic groups in ubiquinol-cytochrome c oxidoreductase
-
i sites and the heme prosthetic groups in ubiquinol-cytochrome c oxidoreductase. Biochem 1993;32:11162-11172.
-
(1993)
Biochem
, vol.32
, pp. 11162-11172
-
-
Howell, N.1
Robertson, D.E.2
-
10
-
-
0028047561
-
Mitochondrial DNA mutation underlying Leigh's syndrome: Clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy
-
Sweeney MG, Hammans SR, Duchen LW, et al. Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy. J Neurol Sci 1994; 121:57-65.
-
(1994)
J Neurol Sci
, vol.121
, pp. 57-65
-
-
Sweeney, M.G.1
Hammans, S.R.2
Duchen, L.W.3
-
11
-
-
0016675751
-
An autosomal dominant form of necrotizing encephalomyelopathy resembling a spinocerebellar degeneration
-
Greenwood RS, DeVivo DC, Nelson JS, et al. An autosomal dominant form of necrotizing encephalomyelopathy resembling a spinocerebellar degeneration. Trans Am Neurol Assoc 1975;100:47-51.
-
(1975)
Trans Am Neurol Assoc
, vol.100
, pp. 47-51
-
-
Greenwood, R.S.1
DeVivo, D.C.2
Nelson, J.S.3
-
12
-
-
0028070835
-
Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF
-
Calabresi PA, Silvestri G, DiMauro S, Griggs RC. Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF. Muscle Nerve 1994;17:943-945.
-
(1994)
Muscle Nerve
, vol.17
, pp. 943-945
-
-
Calabresi, P.A.1
Silvestri, G.2
DiMauro, S.3
Griggs, R.C.4
-
13
-
-
0024439898
-
Nuclearly inherited diuron-resistant mutations conferring a deficiency in the NADH- Or succinate - ubiquinone oxidoreductase activity in Saccharomyces cerevisiae
-
Meunier B, Colson-Corbisier A-M, Lemesle-Meunier D. Nuclearly inherited diuron-resistant mutations conferring a deficiency in the NADH- or succinate - ubiquinone oxidoreductase activity in Saccharomyces cerevisiae. Eur J Biochem 1989; 184:651-656.
-
(1989)
Eur J Biochem
, vol.184
, pp. 651-656
-
-
Meunier, B.1
Colson-Corbisier, A.-M.2
Lemesle-Meunier, D.3
-
14
-
-
0024420201
-
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
-
Berkovic SF, Carpenter S, Evans A, et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989;112:1231-1260.
-
(1989)
Brain
, vol.112
, pp. 1231-1260
-
-
Berkovic, S.F.1
Carpenter, S.2
Evans, A.3
-
15
-
-
0028566729
-
Pathogenic factors underlying the lesions in Leigh's disease: Tissue responses to cellular energy deprivation and their clinico-pathological consequences
-
Cavanagh JB, Harding BN. Pathogenic factors underlying the lesions in Leigh's disease: Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 1994;117:1357-1376.
-
(1994)
Brain
, vol.117
, pp. 1357-1376
-
-
Cavanagh, J.B.1
Harding, B.N.2
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