-
1
-
-
0033631258
-
Incidence of inborn errors of metabolism in British Columbia, 1969-1996
-
D.A. Applegarth J.R. Toone R.B. Lowry Incidence of inborn errors of metabolism in British Columbia, 1969-1996 Pediatrics 105 2000 e10
-
(2000)
Pediatrics
, vol.105
-
-
Applegarth, D.A.1
Toone, J.R.2
Lowry, R.B.3
-
2
-
-
0036024973
-
In vivo and in organello assessment of OXPHOS activities
-
A. Barrientos In vivo and in organello assessment of OXPHOS activities Methods 26 2002 307-316
-
(2002)
Methods
, vol.26
, pp. 307-316
-
-
Barrientos, A.1
-
4
-
-
0032080504
-
Efficiency of metabolic screening in childhood cardiomyopathies
-
D. Bonnet P. de Lonlay I. Gautier P. Rustin A. Rotig J. Kachaner P. Acar J. LeBidois A. Munnich D. Sidi Efficiency of metabolic screening in childhood cardiomyopathies Eur. Heart J. 19 1998 790-793
-
(1998)
Eur. Heart J.
, vol.19
, pp. 790-793
-
-
Bonnet, D.1
de Lonlay, P.2
Gautier, I.3
Rustin, P.4
Rotig, A.5
Kachaner, J.6
Acar, P.7
LeBidois, J.8
Munnich, A.9
Sidi, D.10
-
5
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
P.F. Chinnery D.M. Turnbull Epidemiology and treatment of mitochondrial disorders Am. J. Med. Genet. 106 2001 94-101
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 94-101
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
6
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
P.F. Chinnery M.A. Johnson T.M. Wardell R. Singh-Kler C. Hayes D.T. Brown R.W. Taylor L.A. Bindoff D.M. Turnbull The epidemiology of pathogenic mitochondrial DNA mutations Annu. Neurol. 48 2000 188-193
-
(2000)
Annu. Neurol.
, vol.48
, pp. 188-193
-
-
Chinnery, P.F.1
Johnson, M.A.2
Wardell, T.M.3
Singh-Kler, R.4
Hayes, C.5
Brown, D.T.6
Taylor, R.W.7
Bindoff, L.A.8
Turnbull, D.M.9
-
7
-
-
1242304290
-
DNA polymerase gamma in mitochondrial DNA replication and repair
-
W.C. Copeland M.J. Longley DNA polymerase gamma in mitochondrial DNA replication and repair Sci. World J. 3 2003 34-44
-
(2003)
Sci. World J.
, vol.3
, pp. 34-44
-
-
Copeland, W.C.1
Longley, M.J.2
-
8
-
-
0026117219
-
Pancytopenia with exocrine pancreatic dysfunction (Pearson Syndrome) - A new mitochondrial disorder in early-childhood
-
V. Cormier A. Rotig J.P. Bonnefont F. Mechinand C. Berthou O. Goulet J. Schmitz S. Blanche A. Vassaut M. Maier A. Fischer J.M. Saudubray A. Munnich Pancytopenia with exocrine pancreatic dysfunction (Pearson Syndrome)-a new mitochondrial disorder in early-childhood Archives Francaises De Pediatrie 48 1991 171-178
-
(1991)
Archives Francaises de Pediatrie
, vol.48
, pp. 171-178
-
-
Cormier, V.1
Rotig, A.2
Bonnefont, J.P.3
Mechinand, F.4
Berthou, C.5
Goulet, O.6
Schmitz, J.7
Blanche, S.8
Vassaut, A.9
Maier, M.10
Fischer, A.11
Saudubray, J.M.12
Munnich, A.13
-
9
-
-
0033989832
-
Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden
-
N. Darin M. Tulinius Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden Neuromuscul. Disord. 10 2000 1-9
-
(2000)
Neuromuscul. Disord.
, vol.10
, pp. 1-9
-
-
Darin, N.1
Tulinius, M.2
-
10
-
-
0035092240
-
The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA anbormalities
-
N. Darin A. Oldfors A.R. Moslemi E. Holme M. Tulinius The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA anbormalities Annu. Neurol. 49 2001 377-383
-
(2001)
Annu. Neurol.
, vol.49
, pp. 377-383
-
-
Darin, N.1
Oldfors, A.2
Moslemi, A.R.3
Holme, E.4
Tulinius, M.5
-
11
-
-
0142105849
-
The skeletal muscle channelopathies: Distinct entities and overlapping syndromes
-
N.P. Davies M.G. Hanna The skeletal muscle channelopathies: Distinct entities and overlapping syndromes Curr. Opin. Neurol. 16 2003 559-568
-
(2003)
Curr. Opin. Neurol.
, vol.16
, pp. 559-568
-
-
Davies, N.P.1
Hanna, M.G.2
-
12
-
-
10644252272
-
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation
-
M. Deschauer T. Muller S. Zierg Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation Mitochondrion 1 2001 91
-
(2001)
Mitochondrion
, vol.1
, pp. 91
-
-
Deschauer, M.1
Muller, T.2
Zierg, S.3
-
13
-
-
10644280392
-
Mitochondrial Diseases
-
H.R. Jones et al. (Ed.). Butterworth Heinemann Philadelphia, PA
-
D. DeVivo E. Bonilla S. DiMauro Mitochondrial Diseases. In: H.R. Jones et al. (Ed.). Neuromuscular Disorders of Infancy, Childhood, and Adolescence 2003 Butterworth Heinemann Philadelphia, PA 867-899
-
(2003)
Neuromuscular Disorders of Infancy, Childhood, and Adolescence
, pp. 867-899
-
-
DeVivo, D.1
Bonilla, E.2
DiMauro, S.3
-
14
-
-
0028272494
-
Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation
-
D. de Vries I. de Wijs W. Ruitenbeek J. Begeer P. Smit H. Bentlage B. van Oost Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation J. Neurol. Sci. 124 1994 77-82
-
(1994)
J. Neurol. Sci.
, vol.124
, pp. 77-82
-
-
de Vries, D.1
de Wijs, I.2
Ruitenbeek, W.3
Begeer, J.4
Smit, P.5
Bentlage, H.6
van Oost, B.7
-
15
-
-
0035668367
-
Acute liver failure in infancy: A 14-year experience of a pediatric liver transplantation center
-
P. Durand D. Debray R. Mandel C. Baujard S. Branchereau F. Gauthier E. Jacquemin D. Devictor Acute liver failure in infancy: A 14-year experience of a pediatric liver transplantation center J. Pediatr. 139 2001 871-876
-
(2001)
J. Pediatr.
, vol.139
, pp. 871-876
-
-
Durand, P.1
Debray, D.2
Mandel, R.3
Baujard, C.4
Branchereau, S.5
Gauthier, F.6
Jacquemin, E.7
Devictor, D.8
-
18
-
-
0030138871
-
Polyneuropathy in the mtDNA base pair 3243 point mutation
-
[letter; comment]
-
W. Fang Polyneuropathy in the mtDNA base pair 3243 point mutation [letter; comment] Neurology 46 1996 1495-1496
-
(1996)
Neurology
, vol.46
, pp. 1495-1496
-
-
Fang, W.1
-
20
-
-
0035341093
-
Maternally inherited diabetes and deafness: A multicenter study
-
P.J. Guillausseau P. Massin D. Dubois-LaForgue J. Timsit M. Virally H. Gin E. Bertin J.F. Blickle B. Bouhanick J. Cahen S. Caillat-Zucman G. Charpentier P. Chedin C. Derrien P.H. Ducluzeau A. Grimaldi B. Guerci E. Kaloustian A. Murat F. Olivier M. Paques V. Paquis-Flucklinger B. Porokhov J. Samuel-Lajeunesse B. Vialettes Maternally inherited diabetes and deafness: A multicenter study Annu. Intern. Med. 134 2001 721-728
-
(2001)
Annu. Intern. Med.
, vol.134
, pp. 721-728
-
-
Guillausseau, P.J.1
Massin, P.2
Dubois-LaForgue, D.3
Timsit, J.4
Virally, M.5
Gin, H.6
Bertin, E.7
Blickle, J.F.8
Bouhanick, B.9
Cahen, J.10
Caillat-Zucman, S.11
Charpentier, G.12
Chedin, P.13
Derrien, C.14
Ducluzeau, P.H.15
Grimaldi, A.16
Guerci, B.17
Kaloustian, E.18
Murat, A.19
Olivier, F.20
Paques, M.21
Paquis-Flucklinger, V.22
Porokhov, B.23
Samuel-Lajeunesse, J.24
Vialettes, B.25
more..
-
21
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
I.J. Holt A.E. Harding J.A. Morgan-Hughes Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies Nature 331 1988 717-719
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
23
-
-
0035680732
-
Congenital disorders of glycosylation: The rapidly growing tip of the iceberg
-
J. Jaeken H. Carchon Congenital disorders of glycosylation: The rapidly growing tip of the iceberg Curr. Opin. Neurol. 14 2001 811-815
-
(2001)
Curr. Opin. Neurol.
, vol.14
, pp. 811-815
-
-
Jaeken, J.1
Carchon, H.2
-
24
-
-
0037223749
-
Some practical aspects of providing a diagnostic service for respiratory chain defects
-
A.J. Janssen J.A. Smeitink L.P. van den Heuvel Some practical aspects of providing a diagnostic service for respiratory chain defects Annu. Clin. Biochem. 40 2003 3-8
-
(2003)
Annu. Clin. Biochem.
, vol.40
, pp. 3-8
-
-
Janssen, A.J.1
Smeitink, J.A.2
van den Heuvel, L.P.3
-
25
-
-
0035797151
-
Mitochondria as subcellular targets for clinically useful anthracyclines
-
K. Jung R. Reszka Mitochondria as subcellular targets for clinically useful anthracyclines Adv. Drug Deliv. Rev. 49 2001 87-105
-
(2001)
Adv. Drug Deliv. Rev.
, vol.49
, pp. 87-105
-
-
Jung, K.1
Reszka, R.2
-
26
-
-
0030700599
-
Protean manifestations of mitochondrial diseases: A minireview
-
D.S. Kerr Protean manifestations of mitochondrial diseases: A minireview J. Pediatr. Hematol. Oncol. 19 1997 279-286
-
(1997)
J. Pediatr. Hematol. Oncol.
, vol.19
, pp. 279-286
-
-
Kerr, D.S.1
-
28
-
-
0031774828
-
A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation
-
F. Kurogouchi T. Oguchi E. Mawatari S. Yamaura K. Hora M. Takei Y. Sekijima S. Ikeda K. Kiyosawa A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation Am. J. Nephrol. 18 1998 551-556
-
(1998)
Am. J. Nephrol.
, vol.18
, pp. 551-556
-
-
Kurogouchi, F.1
Oguchi, T.2
Mawatari, E.3
Yamaura, S.4
Hora, K.5
Takei, M.6
Sekijima, Y.7
Ikeda, S.8
Kiyosawa, K.9
-
29
-
-
0035107128
-
Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry
-
J.M. Lacey H.R. Bergen M.J. Magera S. Naylor J.F. O'Brien Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry Clin. Chem. 47 2001 513-518
-
(2001)
Clin. Chem.
, vol.47
, pp. 513-518
-
-
Lacey, J.M.1
Bergen, H.R.2
Magera, M.J.3
Naylor, S.4
O'Brien, J.F.5
-
30
-
-
0029914927
-
Maternally inherited diabetes and deafness: A new diabetes subtype
-
J.A. Maassen T. Kadowaki Maternally inherited diabetes and deafness: A new diabetes subtype Diabetologia 39 1996 375-382
-
(1996)
Diabetologia
, vol.39
, pp. 375-382
-
-
Maassen, J.A.1
Kadowaki, T.2
-
31
-
-
0029946335
-
The molecular basis and clinical characteristics of Maternally Inherited Diabetes and Deafness (MIDD), a recently recognized diabetic subtype
-
J.A. Maassen J.J. Jansen T. Kadowaki J.M. van den Ouweland L.M. t Hart H.H. Lemkes The molecular basis and clinical characteristics of Maternally Inherited Diabetes and Deafness (MIDD), a recently recognized diabetic subtype Exp. Clin. Endocrinol. Diabetes 104 1996 205-211
-
(1996)
Exp. Clin. Endocrinol. Diabetes
, vol.104
, pp. 205-211
-
-
Maassen, J.A.1
Jansen, J.J.2
Kadowaki, T.3
van den Ouweland, J.M.4
t Hart, L.M.5
Lemkes, H.H.6
-
33
-
-
0030686478
-
The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct
-
K. Majamaa J. Turkka M. Karppa S. Winqvist I.E. Hassinen The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct Neurology 49 1997 1331-1334
-
(1997)
Neurology
, vol.49
, pp. 1331-1334
-
-
Majamaa, K.1
Turkka, J.2
Karppa, M.3
Winqvist, S.4
Hassinen, I.E.5
-
34
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
-
K. Majamaa J.S. Moilanen S. Uimonen A.M. Remes P.I. Salmela M. Karppa K.A. Majamaa-Voltti H. Rusanen M. Sorri K.J. Peuhkurinen I.E. Hassinen Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population Am. J. Hum. Genet. 63 1998 447-454
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 447-454
-
-
Majamaa, K.1
Moilanen, J.S.2
Uimonen, S.3
Remes, A.M.4
Salmela, P.I.5
Karppa, M.6
Majamaa-Voltti, K.A.7
Rusanen, H.8
Sorri, M.9
Peuhkurinen, K.J.10
Hassinen, I.E.11
-
36
-
-
0026566806
-
Central nervous system changes in mitochondrial encephalomyopathy: Light and electron microscopic study
-
K. Mizukami M. Sasaki T. Suzuki H. Shiraishi J. Koizumi N. Ohkoshi T. Ogata N. Mori S. Ban K. Kosaka Central nervous system changes in mitochondrial encephalomyopathy: Light and electron microscopic study Acta Neuropathol. (Berl) 83 1992 449-452
-
(1992)
Acta Neuropathol. (Berl.)
, vol.83
, pp. 449-452
-
-
Mizukami, K.1
Sasaki, M.2
Suzuki, T.3
Shiraishi, H.4
Koizumi, J.5
Ohkoshi, N.6
Ogata, T.7
Mori, N.8
Ban, S.9
Kosaka, K.10
-
37
-
-
0029029469
-
Mitochondrial DNA (mtDNA) diseases: Correlation of genotype to phenotype
-
H.J. Morgan M.G. Sweeney J.M. Cooper S.R. Hammans M. Brockington A.H. Schapira A.E. Harding J.B. Clark Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype Biochim. Biophys. Acta 1271 1995 135-140
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 135-140
-
-
Morgan, H.J.1
Sweeney, M.G.2
Cooper, J.M.3
Hammans, S.R.4
Brockington, M.5
Schapira, A.H.6
Harding, A.E.7
Clark, J.B.8
-
40
-
-
0034434583
-
Mitochondrial DNA disorders
-
R.K. Naviaux Mitochondrial DNA disorders Eur. J. Pediatr. 159 2000 S219-S226
-
(2000)
Eur. J. Pediatr.
, vol.159
-
-
Naviaux, R.K.1
-
41
-
-
10644249492
-
The coding problem - Why no one can die of mitochondrial disease in America
-
R.K. Naviaux The coding problem - Why no one can die of mitochondrial disease in America Mitochondrion 1 2001 99
-
(2001)
Mitochondrion
, vol.1
, pp. 99
-
-
Naviaux, R.K.1
-
42
-
-
10644240382
-
Developing an internet-based world registry of mitochondrial disease
-
San Diego: University of California
-
R.K. Naviaux J. Heacock Developing an internet-based world registry of mitochondrial disease In: United Mitochondrial Disease Foundation 2003 University of California San Diego pp. 1-109
-
(2003)
United Mitochondrial Disease Foundation
, pp. 1-109
-
-
Naviaux, R.K.1
Heacock, J.2
-
43
-
-
0034087941
-
Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese
-
M.C. Ng V.T. Yeung C.C. Chow J.K. Li P.R. Smith C.H. Mijovic J.A. Critchley A.H. Barnett C.S. Cockram J.C. Chan Mitochondrial DNA A3243G mutation in patients with early- or late-onset type 2 diabetes mellitus in Hong Kong Chinese Clin. Endocrinol. (Oxf) 52 2000 557-564
-
(2000)
Clin. Endocrinol. (Oxf.)
, vol.52
, pp. 557-564
-
-
Ng, M.C.1
Yeung, V.T.2
Chow, C.C.3
Li, J.K.4
Smith, P.R.5
Mijovic, C.H.6
Critchley, J.A.7
Barnett, A.H.8
Cockram, C.S.9
Chan, J.C.10
-
44
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
I. Nishino A. Spinazzola M. Hirano Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder Science 283 1999 689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
45
-
-
0032771227
-
Multiple presentation of mitochondrial disorders
-
A. Nissenkorn A. Zeharia D. Lev A. Fatal-Valevski V. Barash A. Gutman S. Harel T. Lerman-Sagie Multiple presentation of mitochondrial disorders Arch. Dis. Child 81 1999 209-214
-
(1999)
Arch. Dis. Child
, vol.81
, pp. 209-214
-
-
Nissenkorn, A.1
Zeharia, A.2
Lev, D.3
Fatal-Valevski, A.4
Barash, V.5
Gutman, A.6
Harel, S.7
Lerman-Sagie, T.8
-
46
-
-
0033957295
-
Neurologic presentations of mitochondrial disorders
-
A. Nissenkorn A. Zeharia D. Lev N. Watemberg A. Fattal-Valevski V. Barash A. Gutman S. Harel T. Lerman-Sagie Neurologic presentations of mitochondrial disorders J. Child Neurol. 15 2000 44-48
-
(2000)
J. Child Neurol.
, vol.15
, pp. 44-48
-
-
Nissenkorn, A.1
Zeharia, A.2
Lev, D.3
Watemberg, N.4
Fattal-Valevski, A.5
Barash, V.6
Gutman, A.7
Harel, S.8
Lerman-Sagie, T.9
-
47
-
-
0036550816
-
Approach for a final diagnosis of mitochondrial disease
-
I. Nonaka Approach for a final diagnosis of mitochondrial disease Nippon Rinsho 60 Suppl. 4 2002 224-228
-
(2002)
Nippon Rinsho
, vol.60
, Issue.SUPPL. 4
, pp. 224-228
-
-
Nonaka, I.1
-
48
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
-
S.G. Pavlakis P.C. Phillips S. DiMauro D.C. De Vivo L.P. Rowland Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome Annu. Neurol. 16 1984 481-488
-
(1984)
Annu. 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
-
49
-
-
0031904754
-
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
-
R.J. Pollitt J.V. Leonard Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK Arch. Dis. Child 79 1998 116-119
-
(1998)
Arch. Dis. Child
, vol.79
, pp. 116-119
-
-
Pollitt, R.J.1
Leonard, J.V.2
-
51
-
-
0037222025
-
Hydrogen peroxide overproduction in megamitochondria of troglitazone-treated human hepatocytes
-
S. Shishido H. Koga M. Harada H. Kumemura S. Hanada E. Taniguchi et al. Hydrogen peroxide overproduction in megamitochondria of troglitazone-treated human hepatocytes Hepatology 37 2003 136-147
-
(2003)
Hepatology
, vol.37
, pp. 136-147
-
-
Shishido, S.1
Koga, H.2
Harada, M.3
Kumemura, H.4
Hanada, S.5
Taniguchi, E.6
-
52
-
-
0000297271
-
-
C.R. Scriver et al. (Ed.). 8th ed. The Metabolic and Molecular Bases of Inherited Disease
-
J. Shoffner et al. In: C.R. Scriver et al. (Ed.). Oxidative phosphorylation diseases 8th ed. The Metabolic and Molecular Bases of Inherited Disease vol. 2 2001 2367-2423
-
(2001)
Oxidative Phosphorylation Diseases
, vol.2
, pp. 2367-2423
-
-
Shoffner, J.1
-
53
-
-
0033498227
-
Infantile encephalopathy associated with the MELAS A3243G mutation
-
C.M. Sue C. Bruno A.L. Andreu A. Cargan J.R. Mendell C.Y. Tsao M. Luquette J. Paolicchi S. Shanske S. DiMauro D.C. De Vivo Infantile encephalopathy associated with the MELAS A3243G mutation J. Pediatr. 134 1999 696-700
-
(1999)
J. Pediatr.
, vol.134
, pp. 696-700
-
-
Sue, C.M.1
Bruno, C.2
Andreu, A.L.3
Cargan, A.4
Mendell, J.R.5
Tsao, C.Y.6
Luquette, M.7
Paolicchi, J.8
Shanske, S.9
DiMauro, S.10
De Vivo, D.C.11
-
54
-
-
3042643008
-
Development of language and speech perception in congenitally, profoundly deaf children as a function of age at cochlear implantation
-
M.A. Svirsky S.W. Teoh H. Neuburger Development of language and speech perception in congenitally, profoundly deaf children as a function of age at cochlear implantation Audiol. Neurootol. 9 2004 224-233
-
(2004)
Audiol. Neurootol.
, vol.9
, pp. 224-233
-
-
Svirsky, M.A.1
Teoh, S.W.2
Neuburger, H.3
-
55
-
-
0001104685
-
Laboratory diagnosis of mitochondrial disease
-
D.A. Applegarth (Ed.). Chapman and Hall Medical London, UK
-
R.W. Taylor D.M. Turnbull Laboratory diagnosis of mitochondrial disease. In: D.A. Applegarth (Ed.). Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis, and Management 1997 Chapman and Hall Medical London, UK 341-350
-
(1997)
Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis, and Management
, pp. 341-350
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
56
-
-
0029964226
-
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
-
I.A. Trounce Y.L. Kim A.S. Jun D.C. Wallace Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines Methods Enzymol. 264 1996 484-509
-
(1996)
Methods Enzymol.
, vol.264
, pp. 484-509
-
-
Trounce, I.A.1
Kim, Y.L.2
Jun, A.S.3
Wallace, D.C.4
-
57
-
-
0034058869
-
Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders
-
J. Uusimaa A.M. Remes H. Rantala L. Vainionpaa R. Herva K. Vuopala M. Nuutinen K. Majamaa I.E. Hassinen Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial disorders Pediatrics 105 2000 598-603
-
(2000)
Pediatrics
, vol.105
, pp. 598-603
-
-
Uusimaa, J.1
Remes, A.M.2
Rantala, H.3
Vainionpaa, L.4
Herva, R.5
Vuopala, K.6
Nuutinen, M.7
Majamaa, K.8
Hassinen, I.E.9
-
58
-
-
0036361291
-
Animal models for mitochondrial disease
-
D.C. Wallace Animal models for mitochondrial disease Methods Mol. Biol. 197 2002 3-54
-
(2002)
Methods Mol. Biol.
, vol.197
, pp. 3-54
-
-
Wallace, D.C.1
-
59
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
D.C. Wallace G. Singh M.T. Lott J.A. Hodge T.G. Schurr A.M. Lezza L.J.d Elsas E.K. Nikoskelainen Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas, L.J.d.7
Nikoskelainen, E.K.8
-
60
-
-
0024163051
-
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
-
D.C. Wallace X.X. Zheng M.T. Lott J.M. Shoffner J.A. Hodge R.I. Kelley C.M. Epstein L.C. Hopkins Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease Cell 55 1988 601-610
-
(1988)
Cell
, vol.55
, pp. 601-610
-
-
Wallace, D.C.1
Zheng, X.X.2
Lott, M.T.3
Shoffner, J.M.4
Hodge, J.A.5
Kelley, R.I.6
Epstein, C.M.7
Hopkins, L.C.8
-
61
-
-
0034874355
-
Mitochondrial DNA mutations in black Americans with hypertension-associated end-stage renal disease
-
B. Watson Jr M.A. Khan R.A. Desmond S. Bergman Mitochondrial DNA mutations in black Americans with hypertension-associated end-stage renal disease Am. J. Kidney Dis. 38 2001 529-536
-
(2001)
Am. J. Kidney Dis.
, vol.38
, pp. 529-536
-
-
Watson Jr., B.1
Khan, M.A.2
Desmond, R.A.3
Bergman, S.4
-
62
-
-
0037069274
-
Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
-
N.I. Wolf J.A. Smeitink Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children Neurology 59 2002 1402-1405
-
(2002)
Neurology
, vol.59
, pp. 1402-1405
-
-
Wolf, N.I.1
Smeitink, J.A.2
-
63
-
-
0030850573
-
Direct detection of multiple point mutations in mitochondrial DNA
-
L.J. Wong D. Senadheera Direct detection of multiple point mutations in mitochondrial DNA Clin. Chem. 43 1997 1857-1861
-
(1997)
Clin. Chem.
, vol.43
, pp. 1857-1861
-
-
Wong, L.J.1
Senadheera, D.2
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