-
1
-
-
0024420201
-
Myoclonus epilepsy and ragged-red fibres (MERRF). I. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
-
Berkovic SF, Carpenter S, Evans A, et al. (1989) Myoclonus epilepsy and ragged-red fibres (MERRF). I. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 112:1231-60.
-
(1989)
Brain
, vol.112
, pp. 1231-1260
-
-
Berkovic, S.F.1
Carpenter, S.2
Evans, A.3
-
2
-
-
0035933047
-
Epileptic phenotypes associated with mitochondrial disorders
-
Canafoglia L, Franceschetti S, Antozzi C, et al. (2001) Epileptic phenotypes associated with mitochondrial disorders. Neurology 56:1340-6.
-
(2001)
Neurology
, vol.56
, pp. 1340-1346
-
-
Canafoglia, L.1
Franceschetti, S.2
Antozzi, C.3
-
3
-
-
35748984402
-
The role of mitochondria in status epilepticus
-
Cock H (2007) The role of mitochondria in status epilepticus. Epilepsia 48:24-7.
-
(2007)
Epilepsia
, vol.48
, pp. 24-27
-
-
Cock, H.1
-
4
-
-
0035092240
-
The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
-
Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M (2001) The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 49:377-83.
-
(2001)
Ann Neurol
, vol.49
, pp. 377-383
-
-
Darin, N.1
Oldfors, A.2
Moslemi, A.R.3
Holme, E.4
Tulinius, M.5
-
5
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348:2656-68.
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
Dimauro, S.1
Schon, E.A.2
-
6
-
-
48249156188
-
Mitochondrial disorders in the nervous system
-
DiMauro S, Schon EA (2008) Mitochondrial disorders in the nervous system. Ann Rev Neurosci 31:91-123.
-
(2008)
Ann Rev Neurosci
, vol.31
, pp. 91-123
-
-
Dimauro, S.1
Schon, E.A.2
-
7
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF (2008) Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 83:254-60.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 254-260
-
-
Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
Relton, C.L.4
Chinnery, P.F.5
-
8
-
-
39749121457
-
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
-
Engelsen BA, Tzoulis C, Karlsen B, et al. (2008) POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131:818-28.
-
(2008)
Brain
, vol.131
, pp. 818-828
-
-
Engelsen, B.A.1
Tzoulis, C.2
Karlsen, B.3
-
9
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma
-
Ferrari G, Lamantea E, Donati A, et al. (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma. Brain 128:723-31.
-
(2005)
Brain
, vol.128
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
-
10
-
-
0018885541
-
Myoclonus epilepsy associated with ragged-red fibres (Mitochondrial abnormalities): Disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature
-
Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T (1980) Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 47:117-33.
-
(1980)
J Neurol Sci
, vol.47
, pp. 117-133
-
-
Fukuhara, N.1
Tokiguchi, S.2
Shirakawa, K.3
Tsubaki, T.4
-
11
-
-
0026004614
-
A new mtDNA mutation associated with mitochondrial myopathy, encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Goto Y-I, Nonaka I, Horai S (1991) A new mtDNA mutation associated with mitochondrial myopathy, encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Biocheim Biophys Acta 1097:238-40.
-
(1991)
Biocheim Biophys Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.-I.1
Nonaka, I.2
Horai, S.3
-
12
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin
-
Hakonen AH, Heiskanen S, Juvonen V, et al. (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77:430-41.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 430-441
-
-
Hakonen, A.H.1
Heiskanen, S.2
Juvonen, V.3
-
13
-
-
34250834964
-
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
-
Hakonen AH, Davidzon G, Salemi R, et al. (2007) Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. Eur J Hum Genet 15:779-83.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 779-783
-
-
Hakonen, A.H.1
Davidzon, G.2
Salemi, R.3
-
14
-
-
0004596707
-
Primary mitochondrial diseases
-
Engel J, Pedley TA (eds.), Philadelphia, PA: Lippincott-Raven
-
Hirano M, DiMauro S (1997) Primary mitochondrial diseases. In: Engel J, Pedley TA (eds.) Epilepsy: A Comprehensive Textbook. Philadelphia, PA: Lippincott-Raven, pp. 2563-70.
-
(1997)
Epilepsy: A Comprehensive Textbook
, pp. 2563-2570
-
-
Hirano, M.1
Dimauro, S.2
-
15
-
-
0028107258
-
Topical review: Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)-current concepts
-
Hirano M, Pavlakis SG (1994) Topical review: Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)-current concepts. J Child Neurol 9:4-13.
-
(1994)
J Child Neurol
, vol.9
, pp. 4-13
-
-
Hirano, M.1
Pavlakis, S.G.2
-
16
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
-
Horvath R, Hudson G, Ferrari G, et al. (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129:1674-84.
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
-
17
-
-
33749001168
-
Mitochondrial DNA polymerase-gamma and human disease
-
Hudson G, Chinnery PF (2006) Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 15:R244-52.
-
(2006)
Hum Mol Genet
, vol.15
, pp. R244-R252
-
-
Hudson, G.1
Chinnery, P.F.2
-
18
-
-
0242494492
-
Slowly progressive spread of the stroke-like lesions in MELAS
-
Iizuka T, Sakai F, Kan S, Suzuki N (2003) Slowly progressive spread of the stroke-like lesions in MELAS. Neurology 61:1238-44.
-
(2003)
Neurology
, vol.61
, pp. 1238-1244
-
-
Iizuka, T.1
Sakai, F.2
Kan, S.3
Suzuki, N.4
-
20
-
-
0027280496
-
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations
-
Koo B, Becker LE, Chuang S, et al. (1993) Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. Ann Neurol 34:25-32.
-
(1993)
Ann Neurol
, vol.34
, pp. 25-32
-
-
Koo, B.1
Becker, L.E.2
Chuang, S.3
-
21
-
-
0036221686
-
The role of mitochondria in epileptogenesis
-
Kunz WF (2002) The role of mitochondria in epileptogenesis. Curr Opin Neurol 15:179-84.
-
(2002)
Curr Opin Neurol
, vol.15
, pp. 179-184
-
-
Kunz, W.F.1
-
22
-
-
0031921731
-
Complex partial status epilepticus in late-onset MELAS
-
Leff AP, McNabb AW, Hanna MG, Clarke CR, Larner AJ (1998) Complex partial status epilepticus in late-onset MELAS. Epilepsia 39:438-41.
-
(1998)
Epilepsia
, vol.39
, pp. 438-441
-
-
Leff, A.P.1
McNabb, A.W.2
Hanna, M.G.3
Clarke, C.R.4
Larner, A.J.5
-
23
-
-
34948862122
-
Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease
-
Luoma PT, Eerola J, Ahola S, et al. (2007) Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology 69:1152-9.
-
(2007)
Neurology
, vol.69
, pp. 1152-1159
-
-
Luoma, P.T.1
Eerola, J.2
Ahola, S.3
-
24
-
-
7444244924
-
Assigning pathogenicity to mitochondrial tRNA mutations: When ‘definitely maybe’ is not good enough
-
McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM (2004) Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’ is not good enough. Trends Genet 20:591-6.
-
(2004)
Trends Genet
, vol.20
, pp. 591-596
-
-
McFarland, R.1
Elson, J.L.2
Taylor, R.W.3
Howell, N.4
Turnbull, D.M.5
-
25
-
-
0023889006
-
MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission
-
Montagna P, Gallassi R, Medori R, et al. (1988) MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 38:751-4.
-
(1988)
Neurology
, vol.38
, pp. 751-754
-
-
Montagna, P.1
Gallassi, R.2
Medori, R.3
-
27
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
-
Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16:481-8.
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
Dimauro, S.3
De Vivo, D.C.4
Rowland, L.P.5
-
28
-
-
33846094306
-
An enhanced MITOMAP with a global mtDNA mutational phylogeny
-
Ruiz-Pesini E, Lott MT, Procaccio V, et al. (2007) An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucl Acids Res 35:D823-8.
-
(2007)
Nucl Acids Res
, vol.35
, pp. D823-D828
-
-
Ruiz-Pesini, E.1
Lott, M.T.2
Procaccio, V.3
-
29
-
-
39049156470
-
Prevalence of mitochondrial DNA disease in adults
-
Schaefer AM, McFarland R, Blakely EL, et al. (2008) Prevalence of mitochondrial DNA disease in adults. Ann Neurol 63:35-9.
-
(2008)
Ann Neurol
, vol.63
, pp. 35-39
-
-
Schaefer, A.M.1
McFarland, R.2
Blakely, E.L.3
-
30
-
-
0042266280
-
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
-
Skladal D, Halliday J, Thorburn DR (2003) Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126:1905-12.
-
(2003)
Brain
, vol.126
, pp. 1905-1912
-
-
Skladal, D.1
Halliday, J.2
Thorburn, D.R.3
-
31
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
Taylor RW, Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6:389-402.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
32
-
-
1542328875
-
The diagnosis of mitochondrial muscle disease
-
Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM (2004) The diagnosis of mitochondrial muscle disease. Neuromusc Disords 14:237-45.
-
(2004)
Neuromusc Disords
, vol.14
, pp. 237-245
-
-
Taylor, R.W.1
Schaefer, A.M.2
Barron, M.J.3
McFarland, R.4
Turnbull, D.M.5
-
33
-
-
60549093363
-
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
-
Tzoulis C, Bindoff LA (2009) Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Stroke 40:e15-17.
-
(2009)
Stroke
, vol.40
, pp. e15-e17
-
-
Tzoulis, C.1
Bindoff, L.A.2
-
34
-
-
33745685519
-
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases
-
Tzoulis C, Engelsen BA, Telstad W, et al. (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129:1685-92.
-
(2006)
Brain
, vol.129
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.A.2
Telstad, W.3
-
35
-
-
16844382687
-
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase-gamma mutations
-
Winterthun S, Ferrari G, He L, et al. (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase-gamma mutations. Neurology 64:1204-8.
-
(2005)
Neurology
, vol.64
, pp. 1204-1208
-
-
Winterthun, S.1
Ferrari, G.2
He, L.3
|