-
1
-
-
17744393686
-
Mitochondrial DNA mutations in human disease
-
DOI 10.1038/nrg1606
-
R.W. Taylor, and D.M. Turnbull Mitochondrial DNA mutations in human disease Nat. Rev. Genet. 6 2005 389 402 (Pubitemid 40577182)
-
(2005)
Nature Reviews Genetics
, vol.6
, Issue.5
, pp. 389-402
-
-
Taylor, R.W.1
Turnbull, D.M.2
-
2
-
-
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, and L.P. Rowland Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes: a distinctive clinical syndrome Ann. Neurol. 16 1984 481 488 (Pubitemid 14021826)
-
(1984)
Annals of Neurology
, vol.16
, Issue.4
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
DiMauro, S.3
-
3
-
-
81155130102
-
-
R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens and editors, Seattle (WA), University of Washington Seattle, Gene reviews [Internet; ] (1993), updated 2010 Oct 14.
-
S. DiMauro and M. Hirano. MELAS, R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens and editors, Seattle (WA), University of Washington Seattle, Gene reviews [Internet; http://www.ncbi.nlm.nih.gov/books/NBK1233/ ] (1993), updated 2010 Oct 14.
-
MELAS
-
-
Dimauro, S.1
Hirano, M.2
-
4
-
-
0025666322
-
Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Y. Goto, I. Nonaka, and A. Horai A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies Nature 348 1990 651 653 (Pubitemid 120015131)
-
(1990)
Nature
, vol.348
, Issue.6302
, pp. 651-653
-
-
Goto, Y.-I.1
Nonaka, I.2
Horai, S.3
-
5
-
-
0026708671
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, andstrokelike episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation
-
Y. Goto, S. Horai, T. Matsuoka, Y. Koga, K. Nihei, M. Kobayashi, and I. Nonaka Mitochondrial myopathy, encephalopathy, lactic acidosis, andstrokelike episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation Neurology 42 1992 545 550
-
(1992)
Neurology
, vol.42
, pp. 545-550
-
-
Goto, Y.1
Horai, S.2
Matsuoka, T.3
Koga, Y.4
Nihei, K.5
Kobayashi, M.6
Nonaka, I.7
-
6
-
-
0029031215
-
Maternally inherited diabetes and deafness (MIDD): A distinct subform of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation
-
J.M. van den Ouweland, H.H. Lemkes, K.D. Gerbitz, and J.A. Maassen Maternally inherited diabetes and deafness (MIDD): a distinct subform of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation Muscle Nerve 3 1995 S124 130
-
(1995)
Muscle Nerve
, vol.3
, pp. 124-130
-
-
Van Den Ouweland, J.M.1
Lemkes, H.H.2
Gerbitz, K.D.3
Maassen, J.A.4
-
7
-
-
0028107258
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Current concepts
-
M. Hirano, and S.G. Pavlakis Mitochondrial myopathy, encephalopathy, lactic acidosis, andstrokelike episodes (MELAS): current concepts J. Child Neurol. 9 1994 4 13 (Pubitemid 24022131)
-
(1994)
Journal of Child Neurology
, vol.9
, Issue.1
, pp. 4-13
-
-
Hirano, M.1
Pavlakis, S.G.2
-
8
-
-
54949142139
-
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes, basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
-
D.M. Sproul, and P. Kaufmann Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes, basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome Ann. N.Y. Acad. Sci. 1143 2008 133 158
-
(2008)
Ann. N.Y. Acad. Sci.
, vol.1143
, pp. 133-158
-
-
Sproul, D.M.1
Kaufmann, P.2
-
9
-
-
0141991065
-
116th ENMC international workshop: The treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands
-
DOI 10.1016/S0960-8966(03)00097-X
-
P.F. Chinnery, and L.A. Bindoff 116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands Neuromuscul. Disord. 13 2003 757 764 (Pubitemid 37249493)
-
(2003)
Neuromuscular Disorders
, vol.13
, Issue.9
, pp. 757-764
-
-
Chinnery, P.F.1
Bindoff, L.A.2
-
10
-
-
39049156470
-
Prevalence of mitochondrial DNA disease in adults
-
DOI 10.1002/ana.21217
-
A.M. Schaefer, R. McFarland, E.L. Blakely, L. He, R.G. Whittaker, R.W. Taylor, P.F. Chinnery, and D.M. Turnbull Prevalence of mitochondrial DNA disease in adults Ann. Neurol. 63 2008 35 39 (Pubitemid 351240549)
-
(2008)
Annals of Neurology
, vol.63
, Issue.1
, pp. 35-39
-
-
Schaefer, A.M.1
McFarland, R.2
Blakely, E.L.3
He, L.4
Whittaker, R.G.5
Taylor, R.W.6
Chinnery, P.F.7
Turnbull, D.M.8
-
11
-
-
9644274004
-
The epidemiology of mitochondrial disorders - Past, present and future
-
DOI 10.1016/j.bbabio.2004.09.005, PII S0005272804002713, Euromit 6
-
A.M. Schaefer, R.W. Taylor, D.M. Turnbull, and P.F. Chinnery The epidemiology of mitochondrial disorders-past, present and future Bioch. Biophy. Act BBA Bioenerg. 1659 2004 115 120 (Pubitemid 39575497)
-
(2004)
Biochimica et Biophysica Acta - Bioenergetics
, vol.1659
, Issue.2-3
, pp. 115-120
-
-
Schaefer, A.M.1
Taylor, R.W.2
Turnbull, D.M.3
Chinnery, P.F.4
-
12
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
DOI 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P
-
P.F. Chinnery, M.A. Johnson, T.M. Wardell, R. Singh-Kler, C. Hayes, D.T. Brown, R.W. Taylor, L.A. Bindoff, and D.M. Turnbull The epidemiology of pathogenic mitochondrial DNA mutations Ann. Neurol. 48 2000 188 193 (Pubitemid 30617037)
-
(2000)
Annals of Neurology
, vol.48
, Issue.2
, 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
-
13
-
-
0035092240
-
The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
-
DOI 10.1002/ana.75
-
N. Darin, A. Oldfors, A.R. Moslemi, E. Holme, and M. Tulinius The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities Ann. Neurol. 49 2001 377 383 (Pubitemid 32202792)
-
(2001)
Annals of Neurology
, vol.49
, Issue.3
, pp. 377-383
-
-
Darin, N.1
Oldfors, A.2
Moslemi, A.-R.3
Holme, E.4
Tulinius, M.5
-
14
-
-
0042266280
-
Minimum birth prevalence of mitochondrial respiratory chain disorders in children
-
DOI 10.1093/brain/awg170
-
D. Skladal, J. Halliday, and D.R. Thorburn Minimum birth prevalence of mitochondrial respiratory chain disorders in children Brain 126 2003 1905 1912 (Pubitemid 36917349)
-
(2003)
Brain
, vol.126
, Issue.8
, pp. 1905-1912
-
-
Skladal, D.1
Halliday, J.2
Thorburn, D.R.3
-
15
-
-
2942562564
-
Mitochondrial disorders: Prevalence, myths and advances
-
DOI 10.1023/B:BOLI.0000031098.41409.55
-
D.R. Thorburn Mitochondrial disorders: prevalence, myths and advances J. Inher. Metab. Dis. 27 2004 349 362 (Pubitemid 38756321)
-
(2004)
Journal of Inherited Metabolic Disease
, vol.27
, Issue.3
, pp. 349-362
-
-
Thorburn, D.R.1
-
16
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
H.R. Elliott, D.C. Samuels, J.A. Eden, C.L. Relton, and P.F. Chinery Pathogenic mitochondrial DNA mutations are common in the general population Am. J. Hum. Genet. 83 2008 254 260
-
(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
Chinery, P.F.5
-
17
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
P.F. Chinnery, and 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
-
18
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
-
DOI 10.1086/301959
-
K. Majamaa, J.S. Moilanen, S. Uimonen, A.M. Remes, P.I. Salmela, M. Kärppaä, K.A. Majamaa-Voltti, H. Rusanen, M. Sorri, K.J. Peuhkurinen, and 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. Gen. 63 1998 447 454 (Pubitemid 30418626)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.2
, 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.M.7
Rusanen, H.8
Sorri, M.9
Peuhkurinen, K.J.10
Hassinen, I.E.11
-
19
-
-
34948867248
-
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children
-
DOI 10.1002/ana.21196
-
J. Uusimaa, J.S. Moilanen, L. Vainionpää, P. Tapanainen, P. Lindholm, M. Nuutinen, T. Löppönen, E. Mäki-Torkko, H. Rantala, and K. Majamaa Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A > G mutation in children Ann. Neurol. 62 2007 278 287 (Pubitemid 47525404)
-
(2007)
Annals of Neurology
, vol.62
, Issue.3
, pp. 278-287
-
-
Uusimaa, J.1
Moilanen, J.S.2
Vainionpaa, L.3
Tapanainen, P.4
Lindholm, P.5
Nuutinen, M.6
Lopponen, T.7
Maki-Torkko, E.8
Rantala, H.9
Majamaa, K.10
-
20
-
-
33947278405
-
Population prevalence of the MELAS A3243G mutation
-
DOI 10.1016/j.mito.2006.12.004, PII S1567724907000037
-
N. Manwaring, M.M. Jones, J.J. Wang, E. Rocthchina, C. Howard, P. Mitchell, and C.M. Sue Population prevalence of the MELAS A3243G mutation Mitochondrion 7 2007 230 233 (Pubitemid 46420125)
-
(2007)
Mitochondrion
, vol.7
, Issue.3
, pp. 230-233
-
-
Manwaring, N.1
Jones, M.M.2
Wang, J.J.3
Rochtchina, E.4
Howard, C.5
Mitchell, P.6
Sue, C.M.7
-
21
-
-
0034030344
-
Heterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene
-
DOI 10.1136/adc.82.5.407
-
Y. Koga, Y. Akita, N. Takane, Y. Sato, and H. Kato Heterogeneous presentation in A3243G mutation in the mitochondrial tRNALeu(UUR) gene Arch. Dis. Child. 82 2000 407 411 (Pubitemid 30307773)
-
(2000)
Archives of Disease in Childhood
, vol.82
, Issue.5
, pp. 407-411
-
-
Koga, Y.1
Akita, Y.2
Takane, N.3
Sato, Y.4
Kato, H.5
-
22
-
-
58449106056
-
Protean phenotypic features of the A3243G mitochondrial DNA mutation
-
P. Kaufmann, K. Engelstad, Y. Wei, R. Kulikova, M. Oskoui, V. Battista, D.Y. Koenigsberger, J.M. Pascual, M. Sano, M. Hirano, S. DiMauro, D.C. Shungu, X. Mao, and D.C. DeVivo Protean phenotypic features of the A3243G mitochondrial DNA mutation Arch. Neurol. 66 2009 85 91
-
(2009)
Arch. Neurol.
, vol.66
, pp. 85-91
-
-
Kaufmann, P.1
Engelstad, K.2
Wei, Y.3
Kulikova, R.4
Oskoui, M.5
Battista, V.6
Koenigsberger, D.Y.7
Pascual, J.M.8
Sano, M.9
Hirano, M.10
Dimauro, S.11
Shungu, D.C.12
Mao, X.13
Devivo, D.C.14
-
23
-
-
0026795527
-
Melas: An original case and clinical criteria for diagnosis
-
M. Hirano, E. Ricci, M.R. Koenigsberger, R. Defendini, S.G. Pavlakis, D.C. Devivo, S. Diauro, and L.P. Rowland Melas: an original case and clinical criteria for diagnosis Neuromuscul. Disord. 2 1992 125 135
-
(1992)
Neuromuscul. Disord.
, vol.2
, pp. 125-135
-
-
Hirano, M.1
Ricci, E.2
Koenigsberger, M.R.3
Defendini, R.4
Pavlakis, S.G.5
Devivo, D.C.6
Diauro, S.7
Rowland, L.P.8
-
24
-
-
36148940942
-
Wolff-Parkinson-White syndrome in patients with MELAS
-
DOI 10.1001/archneur.64.11.1625
-
D.M. Sproule, P. Kaufmann, K. Engelstad, T.J. Starc, A.J. Hordof, and D.C. De Vivo Wolff-Parkinson-White syndrome in patients with MELAS Arch. Neurol. 64 2007 1625 1627 (Pubitemid 350106764)
-
(2007)
Archives of Neurology
, vol.64
, Issue.11
, pp. 1625-1627
-
-
Sproule, D.M.1
Kaufmann, P.2
Engelstad, K.3
Starc, T.J.4
Hordof, A.J.5
De Vivo, D.C.6
-
25
-
-
33845202246
-
A scale to monitor progression and treatment of mitochondrial disease in children
-
DOI 10.1016/j.nmd.2006.08.006, PII S0960896606005177
-
C. Phoenix, A.M. Schaefer, J.L. Elson, E. Morava, M. Bugiani, G. Uziel, J.A. Smeitink, D.M. Turnbull, and R. McFarland A scale to monitor progression and treatment of mitochondrial disease in children Neuromuscul. Disord. 16 2006 814 820 (Pubitemid 44855596)
-
(2006)
Neuromuscular Disorders
, vol.16
, Issue.12
, pp. 814-820
-
-
Phoenix, C.1
Schaefer, A.M.2
Elson, J.L.3
Morava, E.4
Bugiani, M.5
Uziel, G.6
Smeitink, J.A.7
Turnbull, D.M.8
McFarland, R.9
-
26
-
-
33745916750
-
Mitochondrial disease in adults: A scale to monitor progression and treatment
-
DOI 10.1212/01.wnl.0000219759.72195.41, PII 0000611420060627000033
-
A.M. Scheafer, C. Phoenix, J.L. Elson, R. McFarland, P.F. Chinnery, and D.M. Turnbull Mitochondrial disease in adults; A scale to monitor progression and treatment Neurology 66 2006 1932 1934 (Pubitemid 44049832)
-
(2006)
Neurology
, vol.66
, Issue.12
, pp. 1932-1934
-
-
Schaefer, A.M.1
Phoenix, C.2
Elson, J.L.3
McFarland, R.4
Chinnery, P.F.5
Turnbull, D.M.6
-
27
-
-
0141923809
-
The clinical spectrum of mitochondrial disease in 75 pediatric patients
-
D. Skladal, V. Sudmeier, S. Konstantopoulou, S. Stöckler-Ipsiroglu, B. Plecko-Startinig, G. Bernert, J. Zeman, and W. Sperl The spectrum of mitochondrial disease in 75 pediatric patients Clin. Pediatr. 42 2003 703 710 (Pubitemid 37248894)
-
(2003)
Clinical Pediatrics
, vol.42
, Issue.8
, pp. 703-710
-
-
Skladal, D.1
Sudmeier, C.2
Konstantopoulou, V.3
Stockler-Ipsiroglu, S.4
Plecko-Startinig, B.5
Bernert, G.6
Zeman, J.7
Sperl, W.8
-
28
-
-
77955288655
-
MELAS and l-arginine therapy: Pathophysiology of stroke-like episodes
-
Y. Koga, N. Povalko, J. Nishioka, K. Katayama, N. Kakimoto, and T. Matsuishi MELAS and l-arginine therapy: pathophysiology of stroke-like episodes Ann. NY Acad. Sci. 1201 2010 104 110
-
(2010)
Ann. NY Acad. Sci.
, vol.1201
, pp. 104-110
-
-
Koga, Y.1
Povalko, N.2
Nishioka, J.3
Katayama, K.4
Kakimoto, N.5
Matsuishi, T.6
|