-
1
-
-
0023615870
-
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome c oxidase
-
Bardosi A, Creutzfeld W, DiMauro S, et al (1987) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome c oxidase. Acta Neuropathol 748: 248-258.
-
(1987)
Acta Neuropathol
, vol.748
, pp. 248-258
-
-
Bardosi, A.1
Creutzfeld, W.2
DiMauro, S.3
-
2
-
-
0025811391
-
Mitochondrial dysfunction in multiplev symmetrical lipomatosis
-
Berkovic SF, Andermann F, Shoubridge EA, et al (1991 a) Mitochondrial dysfunction in multiplev symmetrical lipomatosis. Ann Neurol 29: 566-569.
-
(1991)
Ann Neurol
, vol.29
, pp. 566-569
-
-
Berkovic, S.F.1
Andermann, F.2
Shoubridge, E.A.3
-
3
-
-
0025915103
-
Clinical spectrum of mitochondrial DNA mutation at base pair 8344
-
Berkovic SF, Shoubridge EA, Andermann F, et al (1991b) Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet 338: 457.
-
(1991)
Lancet
, vol.338
, pp. 457
-
-
Berkovic, S.F.1
Shoubridge, E.A.2
Andermann, F.3
-
4
-
-
0025896221
-
Progressive myoclonus epilepsies: Clinical and neurophysiological diagnosis
-
Berkovic SF, So NK, Andermann F (1991c) Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis. J Clin Neurophysiol 8: 261-274.
-
(1991)
J Clin Neurophysiol
, vol.8
, pp. 261-274
-
-
Berkovic, S.F.1
So, N.K.2
Andermann, F.3
-
5
-
-
0027415727
-
Progressive myoclonus epilepsies: An electroclinical, biochemical, morphological and molecular genetic study of 17 cases
-
Franceschetti S, Antozzi C, Binelli S, et al (1993) Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand 87: 219-223.
-
(1993)
Acta Neurol Scand
, vol.87
, pp. 219-223
-
-
Franceschetti, S.1
Antozzi, C.2
Binelli, S.3
-
6
-
-
0027311193
-
Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fibre disease point mutation in mitochondrial DNA
-
Graf WD, Sumi SM, Copass MK, et al (1993) Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fibre disease point mutation in mitochondrial DNA. Ann Neurol 33: 640-645.
-
(1993)
Ann Neurol
, vol.33
, pp. 640-645
-
-
Graf, W.D.1
Sumi, S.M.2
Copass, M.K.3
-
7
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt IJ, Harding AE, Petty RKH, et al (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy Am J Hum Genet 46: 428-433.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petty, R.K.H.3
-
8
-
-
27044447578
-
Identification of a second autosomal locus pre-disposing to multiple deletions of mitochondrial DNA
-
Abstract 1246
-
Kaukonen J, Amati P, Sxiomalainen A, et al (1995) Identification of a second autosomal locus pre-disposing to multiple deletions of mitochondrial DNA. Am J Hum Genet 57 (Supplement): A216 (Abstract 1246).
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
-
-
Kaukonen, J.1
Amati, P.2
Sxiomalainen, A.3
-
9
-
-
0024448458
-
Human cells lacking mitochondrial DNA: Repopulation with exogenous mitochondria by complementation
-
King M, Attardi G (1989) Human cells lacking mitochondrial DNA: repopulation with exogenous mitochondria by complementation. Science 246: 500-503.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.1
Attardi, G.2
-
11
-
-
0029032410
-
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
-
Mariotti C, Savarese N, Suomalainen A, et al (1995) Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 242: 304-312.
-
(1995)
J Neurol
, vol.242
, pp. 304-312
-
-
Mariotti, C.1
Savarese, N.2
Suomalainen, A.3
-
12
-
-
0026480006
-
Fatal infantile liver failure associated with mitochondrial DNA depletion
-
Mazziotta E, Ricci E, Bertini E, et al (1992) Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatrics 121: 896-901.
-
(1992)
J Pediatrics
, vol.121
, pp. 896-901
-
-
Mazziotta, E.1
Ricci, E.2
Bertini, E.3
-
13
-
-
0025228482
-
MR findings in patients with subacute necrotizing encephalomyopathy (Leigh syndrome): Correlation with biochemical defect
-
Medina L, Chi TL, De Vivo DC, et al (1990) MR findings in patients with subacute necrotizing encephalomyopathy (Leigh syndrome): correlation with biochemical defect. Am J Neuroradiol 11: 379-384.
-
(1990)
Am J Neuroradiol
, vol.11
, pp. 379-384
-
-
Medina, L.1
Chi, T.L.2
De Vivo, D.C.3
-
14
-
-
0026015896
-
Mitochondrial DNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes CT, Shanske S, Tritschler HJ, et al (1991) Mitochondrial DNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48: 492-501.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
-
15
-
-
0027335882
-
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
-
Moraes CT, Ciacci F, Silvestri G, et al (1993) Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc Disord 3: 43-50.
-
(1993)
Neuromusc Disord
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
-
17
-
-
0028949749
-
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
-
Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, DaCosta J, Harding AE (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118: 319-338.
-
(1995)
Brain
, vol.118
, pp. 319-338
-
-
Riordan-Eva, P.1
Sanders, M.D.2
Govan, G.G.3
Sweeney, M.G.4
DaCosta, J.5
Harding, A.E.6
-
18
-
-
0001157467
-
Mitochondrial encephalomyopathies: Lumping, splitting and melding
-
Schapira AHV, DiMauro S, eds. London: Butterworth-Heinemann
-
Rowland LP (1994) Mitochondrial encephalomyopathies: lumping, splitting and melding. In Schapira AHV, DiMauro S, eds. Mitochondrial Disorders in Neurology. International Medical Reviews: Neurology, vol. 14. London: Butterworth-Heinemann, 116-144.
-
(1994)
Mitochondrial Disorders in Neurology. International Medical Reviews: Neurology
, vol.14
, pp. 116-144
-
-
Rowland, L.P.1
-
19
-
-
27044442925
-
Clinical syndromes associated with ragged-red fibres
-
Rowland LP, Blake DM, Hirano S, et al (1991) Clinical syndromes associated with ragged-red fibres. Revue Neurologique 290: 457-465.
-
(1991)
Revue Neurologique
, vol.290
, pp. 457-465
-
-
Rowland, L.P.1
Blake, D.M.2
Hirano, S.3
-
20
-
-
0027237160
-
Investigation of respiratory chain activity in human heart
-
Rustin P, Chretien D, Bourgeron T, et al (1993) Investigation of respiratory chain activity in human heart. Biochem Med Metab Biol 50: 120-126.
-
(1993)
Biochem Med Metab Biol
, vol.50
, pp. 120-126
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
-
21
-
-
0027451284
-
The mutation at 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
-
Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S (1993) The mutation at 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34: 827-834.
-
(1993)
Ann Neurol
, vol.34
, pp. 827-834
-
-
Santorelli, F.M.1
Shanske, S.2
Macaya, A.3
DeVivo, D.C.4
DiMauro, S.5
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