-
1
-
-
33748377123
-
Central nervous system manifestations of mitochondrial disorders
-
Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand 2006;114:217-238.
-
(2006)
Acta Neurol Scand
, vol.114
, pp. 217-238
-
-
Finsterer, J.1
-
2
-
-
0035154001
-
Phenotype variability in 130 adult patients with respiratory chain disorders
-
Finsterer J, Jarius C, Eichberger H. Phenotype variability in 130 adult patients with respiratory chain disorders. J Inherit Metab Dis 2001;24:560-576.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 560-576
-
-
Finsterer, J.1
Jarius, C.2
Eichberger, H.3
-
3
-
-
79851498310
-
Cranial magnetic resonance imaging findings in children with nonsyndromic mitochondrial diseases
-
Chi CS, Lee HF, Tsai CR, et al. Cranial magnetic resonance imaging findings in children with nonsyndromic mitochondrial diseases. Pediatr Neurol 2011;44:171-176.
-
(2011)
Pediatr Neurol
, vol.44
, pp. 171-176
-
-
Chi, C.S.1
Lee, H.F.2
Tsai, C.R.3
-
4
-
-
77951974494
-
Leukodystrophies with late disease onset: an update
-
Köhler W. Leukodystrophies with late disease onset: an update. Curr Opin Neurol 2010;23:234-241.
-
(2010)
Curr Opin Neurol
, vol.23
, pp. 234-241
-
-
Köhler, W.1
-
5
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-221.
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
6
-
-
48149098204
-
Classification of white matter lesions on magnetic resonance imaging in elderly persons
-
Kim KW, MacFall JR, Payne ME. Classification of white matter lesions on magnetic resonance imaging in elderly persons. Biol Psychiatry 2008;64:273-280.
-
(2008)
Biol Psychiatry
, vol.64
, pp. 273-280
-
-
Kim, K.W.1
MacFall, J.R.2
Payne, M.E.3
-
7
-
-
22844444188
-
Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS
-
Apostolova LG, White M, Moore SA, et al. Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS. Arch Neurol 2005;62:1154-1156.
-
(2005)
Arch Neurol
, vol.62
, pp. 1154-1156
-
-
Apostolova, L.G.1
White, M.2
Moore, S.A.3
-
8
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases
-
Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 1958;60:280-289.
-
(1958)
AMA Arch Ophthalmol
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, G.P.2
-
9
-
-
77955576599
-
MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioural disturbances: case analysis with literature review
-
Kaufman KR, Zuber N, Rueda-Lara MA, et al. MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioural disturbances: case analysis with literature review. Epilepsy Behav 2010;18:494-497.
-
(2010)
Epilepsy Behav
, vol.18
, pp. 494-497
-
-
Kaufman, K.R.1
Zuber, N.2
Rueda-Lara, M.A.3
-
10
-
-
54949142139
-
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
-
Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008;1142:133-158.
-
(2008)
Ann N Y Acad Sci
, vol.1142
, pp. 133-158
-
-
Sproule, D.M.1
Kaufmann, P.2
-
11
-
-
70349652130
-
Brain anomalies in maternally inherited diabetes and deafness syndrome
-
Fromont I, Nicoli F, Valéro R, et al. Brain anomalies in maternally inherited diabetes and deafness syndrome. J Neurol 2009;256:1696-1704.
-
(2009)
J Neurol
, vol.256
, pp. 1696-1704
-
-
Fromont, I.1
Nicoli, F.2
Valéro, R.3
-
12
-
-
0031267153
-
Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
-
Guo Y, Guo Z, Chen L, et al. Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Chin Med J (Engl) 1997;110:851-855.
-
(1997)
Chin Med J (Engl)
, vol.110
, pp. 851-855
-
-
Guo, Y.1
Guo, Z.2
Chen, L.3
-
13
-
-
0029045601
-
Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features
-
Huang CC, Wai YY, Chu NS, et al. Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features. Eur Neurol 1995;35:199-205.
-
(1995)
Eur Neurol
, vol.35
, pp. 199-205
-
-
Huang, C.C.1
Wai, Y.Y.2
Chu, N.S.3
-
14
-
-
78649612716
-
Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G A mutation, and neuropathological findings in one autopsy case
-
Wang Z, Qi XK, Yao S, et al. Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G A mutation, and neuropathological findings in one autopsy case. Neuropathology 2010;30:606-614.
-
(2010)
Neuropathology
, vol.30
, pp. 606-614
-
-
Wang, Z.1
Qi, X.K.2
Yao, S.3
-
15
-
-
0033966736
-
MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study
-
Tanahashi C, Nakayama A, Yoshida M, et al. MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study. Acta Neuropathol 2000;99:31-38.
-
(2000)
Acta Neuropathol
, vol.99
, pp. 31-38
-
-
Tanahashi, C.1
Nakayama, A.2
Yoshida, M.3
-
16
-
-
74949085121
-
MELAS with diffuse degeneration of the cerebral white matter: report of an autopsy case
-
Yokoyama T, Hasegawa K, Obama R, et al.MELAS with diffuse degeneration of the cerebral white matter: report of an autopsy case. Neuropathology 2010;30:56-60.
-
(2010)
Neuropathology
, vol.30
, pp. 56-60
-
-
Yokoyama, T.1
Hasegawa, K.2
Obama, R.3
-
17
-
-
0032941953
-
MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study
-
Tsuchiya K, Miyazaki H, Akabane H, et al. MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study. Acta Neuropathol 1999;97:520-524.
-
(1999)
Acta Neuropathol
, vol.97
, pp. 520-524
-
-
Tsuchiya, K.1
Miyazaki, H.2
Akabane, H.3
-
18
-
-
0026280317
-
Mitochondrial myopathy and leukoencephalopathy in twins of different sexes
-
Pou Serradell A, Corominas J, Vilaseca MA, et al. Mitochondrial myopathy and leukoencephalopathy in twins of different sexes. Rev Neurol (Paris) 1991;147:497-500.
-
(1991)
Rev Neurol (Paris)
, vol.147
, pp. 497-500
-
-
Pou Serradell, A.1
Corominas, J.2
Vilaseca, M.A.3
-
19
-
-
0025180872
-
CT, MRI, and autopsy findings in brain of a patient with MELAS
-
Fujii T, Okuno T, Ito M, et al. CT, MRI, and autopsy findings in brain of a patient with MELAS. Pediatr Neurol 1990;6:253-256.
-
(1990)
Pediatr Neurol
, vol.6
, pp. 253-256
-
-
Fujii, T.1
Okuno, T.2
Ito, M.3
-
20
-
-
0030152850
-
An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA
-
Terauchi A, Tamagawa K, Morimatsu Y, et al. An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. Brain Dev 1996;18:224-229.
-
(1996)
Brain Dev
, vol.18
, pp. 224-229
-
-
Terauchi, A.1
Tamagawa, K.2
Morimatsu, Y.3
-
21
-
-
73649127658
-
Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images
-
Tsujikawa T, Yoneda M, Shimizu Y, et al. Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images. Brain Dev 2010;32:143-149.
-
(2010)
Brain Dev
, vol.32
, pp. 143-149
-
-
Tsujikawa, T.1
Yoneda, M.2
Shimizu, Y.3
-
22
-
-
0032724863
-
Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS
-
Wilichowski E, Pouwels PJ, Frahm J, et al. Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS. Neuropediatrics 1999;30:256-263.
-
(1999)
Neuropediatrics
, vol.30
, pp. 256-263
-
-
Wilichowski, E.1
Pouwels, P.J.2
Frahm, J.3
-
23
-
-
72649101562
-
Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation
-
Lindroos MM, Borra RJ, Parkkola R, et al. Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation. Brain 2009;132:3274-3284.
-
(2009)
Brain
, vol.132
, pp. 3274-3284
-
-
Lindroos, M.M.1
Borra, R.J.2
Parkkola, R.3
-
24
-
-
19244387448
-
Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome
-
Stratilová L, Zeman J, Houst'ková H, et al. Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome. Cas Lek Cesk 1999;138:401-405.
-
(1999)
Cas Lek Cesk
, vol.138
, pp. 401-405
-
-
Stratilová, L.1
Zeman, J.2
Houst'ková, H.3
-
25
-
-
79953741381
-
MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients
-
Lorenzoni PJ, Scola RH, Kay CS, et al. MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients. Mitochondrion 2011;11:528-532.
-
(2011)
Mitochondrion
, vol.11
, pp. 528-532
-
-
Lorenzoni, P.J.1
Scola, R.H.2
Kay, C.S.3
-
26
-
-
57549087036
-
Leber's optic neuropathy associated with disseminated white matter disease: a case report and review
-
Perez F, Anne O, Debruxelles S, et al. Leber's optic neuropathy associated with disseminated white matter disease: a case report and review. Clin Neurol Neurosurg 2009;111:83-86.
-
(2009)
Clin Neurol Neurosurg
, vol.111
, pp. 83-86
-
-
Perez, F.1
Anne, O.2
Debruxelles, S.3
-
27
-
-
0031148560
-
Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study
-
Cortelli P, Montagna P, Pierangeli G, et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study. J Neurol Sci 1997;148:25-31.
-
(1997)
J Neurol Sci
, vol.148
, pp. 25-31
-
-
Cortelli, P.1
Montagna, P.2
Pierangeli, G.3
-
28
-
-
79953040741
-
Bilateral progressive visual loss in an epileptic, mentally retarded boy
-
Guerriero S, Vetrugno M, Ciracì L, et al. Bilateral progressive visual loss in an epileptic, mentally retarded boy. Middle East Afr J Ophthalmol 2011;18:67-70.
-
(2011)
Middle East Afr J Ophthalmol
, vol.18
, pp. 67-70
-
-
Guerriero, S.1
Vetrugno, M.2
Ciracì, L.3
-
29
-
-
0036224544
-
White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation
-
Lev D, Yanoov-Sharav M, Watemberg N, et al. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation. Eur J Paediatr Neurol 2002;6:121-123.
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 121-123
-
-
Lev, D.1
Yanoov-Sharav, M.2
Watemberg, N.3
-
30
-
-
11244291105
-
Neuropathology of white matter disease in Leber's hereditary optic neuropathy
-
Kovács GG, Höftberger R, Majtényi K, et al. Neuropathology of white matter disease in Leber's hereditary optic neuropathy. Brain 2005;128:35-41.
-
(2005)
Brain
, vol.128
, pp. 35-41
-
-
Kovács, G.G.1
Höftberger, R.2
Majtényi, K.3
-
31
-
-
0028801062
-
Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations
-
Meire FM, Van Coster R, Cochaux P, et al. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. Ophthalmic Genet 1995;16:119-126.
-
(1995)
Ophthalmic Genet
, vol.16
, pp. 119-126
-
-
Meire, F.M.1
Van Coster, R.2
Cochaux, P.3
-
32
-
-
34247092379
-
White matter changes in Leber's hereditary optic neuropathy: MRI findings
-
Küker W, Weir A, Quaghebeur G, et al. White matter changes in Leber's hereditary optic neuropathy: MRI findings. Eur J Neurol 2007;14:591-593.
-
(2007)
Eur J Neurol
, vol.14
, pp. 591-593
-
-
Küker, W.1
Weir, A.2
Quaghebeur, G.3
-
33
-
-
0026782507
-
Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation
-
Harding AE, Sweeney MG, Miller DH, et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992;115:979-989.
-
(1992)
Brain
, vol.115
, pp. 979-989
-
-
Harding, A.E.1
Sweeney, M.G.2
Miller, D.H.3
-
34
-
-
78349306830
-
Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding's, Leber's or Leber's Plus?
-
Cawley N, Molloy A, Cassidy L, et al. Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding's, Leber's or Leber's Plus? Ir J Med Sci 2010;179:599-601.
-
(2010)
Ir J Med Sci
, vol.179
, pp. 599-601
-
-
Cawley, N.1
Molloy, A.2
Cassidy, L.3
-
36
-
-
75149152844
-
Brain white matter 1 H MRS in Leber optic neuropathy mutation carriers
-
Ostojic J, Jancic J, Kozic D, et al. Brain white matter 1 H MRS in Leber optic neuropathy mutation carriers. Acta Neurol Belg 2009;109:305-309.
-
(2009)
Acta Neurol Belg
, vol.109
, pp. 305-309
-
-
Ostojic, J.1
Jancic, J.2
Kozic, D.3
-
37
-
-
78649615076
-
Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy
-
Barcella V, Rocca MA, Bianchi-Marzoli S, et al. Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy. Hum Brain Mapp 2010;31:1900-1906.
-
(2010)
Hum Brain Mapp
, vol.31
, pp. 1900-1906
-
-
Barcella, V.1
Rocca, M.A.2
Bianchi-Marzoli, S.3
-
38
-
-
0242584408
-
Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Bosbach S, Kornblum C, Schröder R, et al. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Brain 2003;126:1231-1240.
-
(2003)
Brain
, vol.126
, pp. 1231-1240
-
-
Bosbach, S.1
Kornblum, C.2
Schröder, R.3
-
39
-
-
0033551454
-
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions
-
Moslemi AR, Melberg A, Holme E, et al. Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. Neurology 1999;53(1):79-84.
-
(1999)
Neurology
, vol.53
, Issue.1
, pp. 79-84
-
-
Moslemi, A.R.1
Melberg, A.2
Holme, E.3
-
40
-
-
66849097994
-
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
-
Van Hove JL, Cunningham V, Rice C, et al. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A 2009;149A:861-867.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 861-867
-
-
Van Hove, J.L.1
Cunningham, V.2
Rice, C.3
-
41
-
-
33748455870
-
Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain
-
Heidenreich JO, Klopstock T, Schirmer T, et al. Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. AJR Am J Roentgenol 2006;187:820-824.
-
(2006)
AJR Am J Roentgenol
, vol.187
, pp. 820-824
-
-
Heidenreich, J.O.1
Klopstock, T.2
Schirmer, T.3
-
42
-
-
79956075131
-
Kearns-Sayre syndrome: a mitochondrial disease (OMIM #530000)
-
Mayer WJ, Remy M, Rudolph G. Kearns-Sayre syndrome: a mitochondrial disease (OMIM #530000). Ophthalmologe 2011;108:459-462.
-
(2011)
Ophthalmologe
, vol.108
, pp. 459-462
-
-
Mayer, W.J.1
Remy, M.2
Rudolph, G.3
-
43
-
-
84975461243
-
Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain
-
Kamata Y, Mashima Y, Yokoyama M, et al. Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain. J Neuroophthalmol 1998;18:284-288.
-
(1998)
J Neuroophthalmol
, vol.18
, pp. 284-288
-
-
Kamata, Y.1
Mashima, Y.2
Yokoyama, M.3
-
44
-
-
0033435127
-
MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review
-
Chu BC, Terae S, Takahashi C, et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology 1999;41:759-764.
-
(1999)
Neuroradiology
, vol.41
, pp. 759-764
-
-
Chu, B.C.1
Terae, S.2
Takahashi, C.3
-
45
-
-
33745527505
-
Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes
-
Hourani RG, Barada WM, Al-Kutoubi AM, et al. Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. Neuropediatrics 2006;37:110-113.
-
(2006)
Neuropediatrics
, vol.37
, pp. 110-113
-
-
Hourani, R.G.1
Barada, W.M.2
Al-Kutoubi, A.M.3
-
46
-
-
67349274354
-
Diffusion tensor imaging in a case of Kearns-Sayre syndrome: striking brainstem involvement as a possible cause of oculomotor symptoms
-
Duning T, Deppe M, Keller S, Mohammadi S, et al. Diffusion tensor imaging in a case of Kearns-Sayre syndrome: striking brainstem involvement as a possible cause of oculomotor symptoms. J Neurol Sci 2009;281:110-112.
-
(2009)
J Neurol Sci
, vol.281
, pp. 110-112
-
-
Duning, T.1
Deppe, M.2
Keller, S.3
Mohammadi, S.4
-
47
-
-
0033563669
-
Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome
-
Tanji K, DiMauro S, Bonilla E. Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. J Neurol Sci 1999;166:64-70.
-
(1999)
J Neurol Sci
, vol.166
, pp. 64-70
-
-
Tanji, K.1
DiMauro, S.2
Bonilla, E.3
-
48
-
-
32044475137
-
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
-
Pineda M, Ormazabal A, López-Gallardo E, et al. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol 2006;59:394-398.
-
(2006)
Ann Neurol
, vol.59
, pp. 394-398
-
-
Pineda, M.1
Ormazabal, A.2
López-Gallardo, E.3
-
49
-
-
17144442529
-
Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome
-
Müller W, Mennel HD, Bewermeyer K, et al. Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome. Clin Neuropathol 2003;22:240-245.
-
(2003)
Clin Neuropathol
, vol.22
, pp. 240-245
-
-
Müller, W.1
Mennel, H.D.2
Bewermeyer, K.3
-
50
-
-
0026016757
-
Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA
-
McKelvie PA, Morley JB, Byrne E, et al. Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA. J Neurol Sci 1991;102:51-60.
-
(1991)
J Neurol Sci
, vol.102
, pp. 51-60
-
-
McKelvie, P.A.1
Morley, J.B.2
Byrne, E.3
-
51
-
-
0032471372
-
Neuroradiologic findings in children with mitochondrial disorders
-
Valanne L, Ketonen L, Majander A, et al. Neuroradiologic findings in children with mitochondrial disorders. Am J Neuroradiol 1998;19:369-377.
-
(1998)
Am J Neuroradiol
, vol.19
, pp. 369-377
-
-
Valanne, L.1
Ketonen, L.2
Majander, A.3
-
52
-
-
34249690716
-
The neurological evolution of Pearson syndrome: case report and literature review
-
Lee HF, Lee HJ, Chi CS, et al. The neurological evolution of Pearson syndrome: case report and literature review. Eur J Paediatr Neurol 2007;11:208-214.
-
(2007)
Eur J Paediatr Neurol
, vol.11
, pp. 208-214
-
-
Lee, H.F.1
Lee, H.J.2
Chi, C.S.3
-
53
-
-
67651152870
-
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
-
Roels F, Verloo P, Eyskens F, et al. Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. BMC Clin Pathol 2009;9:4-12.
-
(2009)
BMC Clin Pathol
, vol.9
, Issue.4-12
-
-
Roels, F.1
Verloo, P.2
Eyskens, F.3
-
55
-
-
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
-
56
-
-
33847064731
-
A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene
-
Hung PC, Wang HS. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. Dev Med Child Neurol 2007;49:65-67.
-
(2007)
Dev Med Child Neurol
, vol.49
, pp. 65-67
-
-
Hung, P.C.1
Wang, H.S.2
-
57
-
-
81055158015
-
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
-
Ostergaard E, Rodenburg RJ, van den Brand M, et al. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. J Med Genet 2011;48:737-740.
-
(2011)
J Med Genet
, vol.48
, pp. 737-740
-
-
Ostergaard, E.1
Rodenburg, R.J.2
van den Brand, M.3
-
58
-
-
0037929024
-
Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?
-
Rouco Axpe I, Garaizar Axpe C, Labairu Echevarría M, et al. Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome? Neurologia 2003;18:241-247.
-
(2003)
Neurologia
, vol.18
, pp. 241-247
-
-
Rouco Axpe, I.1
Garaizar Axpe, C.2
Labairu Echevarría, M.3
-
59
-
-
58749111796
-
Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course
-
Sobreira C, Marques W Jr, Pontes Neto OM, et al. Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course. J Neurol Sci 2009;278:132-134.
-
(2009)
J Neurol Sci
, vol.278
, pp. 132-134
-
-
Sobreira, C.1
Marques Jr., W.2
Pontes Neto, O.M.3
-
60
-
-
34250625246
-
Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study
-
Zhang Y, Sun F, Yang YL, et al. Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study. Zhongguo Dang Dai Er Ke Za Zhi 2007;9:216-219.
-
(2007)
Zhongguo Dang Dai Er Ke Za Zhi
, vol.9
, pp. 216-219
-
-
Zhang, Y.1
Sun, F.2
Yang, Y.L.3
-
61
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-692.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
62
-
-
34247126028
-
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation
-
Carod-Artal FJ, Herrero MD, Lara MC, et al. Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur J Neurol 2007;14:581-585.
-
(2007)
Eur J Neurol
, vol.14
, pp. 581-585
-
-
Carod-Artal, F.J.1
Herrero, M.D.2
Lara, M.C.3
-
63
-
-
68949189533
-
A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy
-
Laforce R Jr, Valdmanis PN, Dupré N, et al. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. Clin Neurol Neurosurg 2009;111:691-694.
-
(2009)
Clin Neurol Neurosurg
, vol.111
, pp. 691-694
-
-
Laforce Jr., R.1
Valdmanis, P.N.2
Dupré, N.3
-
64
-
-
0031681413
-
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
-
Papadimitriou A, Comi GP, Hadjigeorgiou GM, et al. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 1998;51:1086-1092.
-
(1998)
Neurology
, vol.51
, pp. 1086-1092
-
-
Papadimitriou, A.1
Comi, G.P.2
Hadjigeorgiou, G.M.3
-
65
-
-
33749597436
-
Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): evidence of delayed central conduction time
-
Gamez J, Minoves T. Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): evidence of delayed central conduction time. Clin Neurophysiol 2006;117:2385-2391.
-
(2006)
Clin Neurophysiol
, vol.117
, pp. 2385-2391
-
-
Gamez, J.1
Minoves, T.2
-
66
-
-
33750386270
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
-
Honzík T, Tesarová M, Hansíková H, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Cas Lek Cesk 2006;145:665-670.
-
(2006)
Cas Lek Cesk
, vol.145
, pp. 665-670
-
-
Honzík, T.1
Tesarová, M.2
Hansíková, H.3
-
67
-
-
33847639864
-
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features
-
Schüpbach WM, Vadday KM, Schaller A, et al. Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. J Neurol 2007;254:146-153.
-
(2007)
J Neurol
, vol.254
, pp. 146-153
-
-
Schüpbach, W.M.1
Vadday, K.M.2
Schaller, A.3
-
68
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen AH, Isohanni P, Paetau A, et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007;130:3032-3040.
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
-
69
-
-
34047109743
-
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
Scheper GC, van der Klok T, van Andel RJ, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534-539.
-
(2007)
Nat Genet
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
van der Klok, T.2
van Andel, R.J.3
-
70
-
-
74549201114
-
DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis
-
Isohanni P, Linnankivi T, Buzkova J, et al. DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis. J Med Genet 2010;47:66-70.
-
(2010)
J Med Genet
, vol.47
, pp. 66-70
-
-
Isohanni, P.1
Linnankivi, T.2
Buzkova, J.3
-
71
-
-
50049132598
-
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings
-
Uluc K, Baskan O, Yildirim KA, et al. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci 2008;273:118-122.
-
(2008)
J Neurol Sci
, vol.273
, pp. 118-122
-
-
Uluc, K.1
Baskan, O.2
Yildirim, K.A.3
-
72
-
-
78650210763
-
Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene
-
Lin J, Chiconelli Faria E, Da Rocha AJ, Rodrigues Masruha M, et al. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. J Child Neurol 2010;25:1425-1428.
-
(2010)
J Child Neurol
, vol.25
, pp. 1425-1428
-
-
Lin, J.1
Chiconelli Faria, E.2
Da Rocha, A.J.3
Rodrigues Masruha, M.4
-
73
-
-
0029161718
-
Infantile-onset spinocerebellar ataxia: MR and CT findings
-
Koskinen T, Valanne L, Ketonen LM, et al. Infantile-onset spinocerebellar ataxia: MR and CT findings. Am J Neuroradiol 1995;16:1427-1433.
-
(1995)
Am J Neuroradiol
, vol.16
, pp. 1427-1433
-
-
Koskinen, T.1
Valanne, L.2
Ketonen, L.M.3
-
74
-
-
78649552868
-
Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
-
Chung KW, Suh BC, Cho SY, et al. Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. J Neurol Neurosurg Psychiatry 2010;81:1203-1206.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 1203-1206
-
-
Chung, K.W.1
Suh, B.C.2
Cho, S.Y.3
-
75
-
-
0030930127
-
Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively
-
Nicolino M, Ferlin T, Forest M, et al. Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. J Clin Endocrinol Metab 1997;82:3063-3067.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3063-3067
-
-
Nicolino, M.1
Ferlin, T.2
Forest, M.3
-
76
-
-
0028229785
-
Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion
-
Nakai A, Goto Y, Fujisawa K, et al. Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion. Lancet 1994;343:1397-1398.
-
(1994)
Lancet
, vol.343
, pp. 1397-1398
-
-
Nakai, A.1
Goto, Y.2
Fujisawa, K.3
-
77
-
-
0035940540
-
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
-
Jaksch M, Horvath R, Horn N, et al. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 2001;57:1440-1446.
-
(2001)
Neurology
, vol.57
, pp. 1440-1446
-
-
Jaksch, M.1
Horvath, R.2
Horn, N.3
-
78
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-575.
-
(2006)
Nat Genet
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
-
79
-
-
33748642169
-
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
-
Karadimas CL, Vu TH, Holve SA, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006;79:544-548.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 544-548
-
-
Karadimas, C.L.1
Vu, T.H.2
Holve, S.A.3
-
80
-
-
79952423328
-
POLG1 manifestations in childhood
-
Isohanni P, Hakonen AH, Euro L, et al. POLG1 manifestations in childhood. Neurology 2011;76:811-815.
-
(2011)
Neurology
, vol.76
, pp. 811-815
-
-
Isohanni, P.1
Hakonen, A.H.2
Euro, L.3
-
81
-
-
20844442462
-
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
-
Van Goethem G, Luoma P, Rantamäki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-1257.
-
(2004)
Neurology
, vol.63
, pp. 1251-1257
-
-
Van Goethem, G.1
Luoma, P.2
Rantamäki, M.3
-
82
-
-
57049125014
-
MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course
-
Zafeiriou DI, Rodenburg RJ, Scheffer H, et al. MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course. Neuropediatrics 2008;39:172-175.
-
(2008)
Neuropediatrics
, vol.39
, pp. 172-175
-
-
Zafeiriou, D.I.1
Rodenburg, R.J.2
Scheffer, H.3
-
83
-
-
0036592658
-
Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction
-
Kang PB, Hunter JV, Melvin JJ, et al. Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction. J Child Neurol 2002;17:421-428.
-
(2002)
J Child Neurol
, vol.17
, pp. 421-428
-
-
Kang, P.B.1
Hunter, J.V.2
Melvin, J.J.3
-
84
-
-
0036121322
-
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy
-
Weinstock A, Giglio P, Cohen ME, et al. Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. J Child Neurol 2002;17:47-49.
-
(2002)
J Child Neurol
, vol.17
, pp. 47-49
-
-
Weinstock, A.1
Giglio, P.2
Cohen, M.E.3
-
85
-
-
78751706006
-
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
-
Lebre AS, Rio M, Faivre d'Arcier L, et al. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet 2011;48:16-23.
-
(2011)
J Med Genet
, vol.48
, pp. 16-23
-
-
Lebre, A.S.1
Rio, M.2
Faivre d'Arcier, L.3
-
86
-
-
0030850442
-
Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients
-
Lindner A, Hofmann E, Naumann M, et al. Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients. Mol Cell Biochem 1997;174:297-303.
-
(1997)
Mol Cell Biochem
, vol.174
, pp. 297-303
-
-
Lindner, A.1
Hofmann, E.2
Naumann, M.3
-
87
-
-
0036097810
-
Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report
-
Majoie CB, Akkerman EM, Blank C, et al. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report. Am J Neuroradiol 2002;23:813-816.
-
(2002)
Am J Neuroradiol
, vol.23
, pp. 813-816
-
-
Majoie, C.B.1
Akkerman, E.M.2
Blank, C.3
-
88
-
-
0033926630
-
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
-
de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, et al. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency. J Pediatr 2000;136:209-214.
-
(2000)
J Pediatr
, vol.136
, pp. 209-214
-
-
de Lonlay-Debeney, P.1
von Kleist-Retzow, J.C.2
Hertz-Pannier, L.3
-
90
-
-
34250630560
-
Neuropathology of mitochondrial diseases
-
Filosto M, Tomelleri G, Tonin P, et al. Neuropathology of mitochondrial diseases. Biosci Rep 2007;27:23-30.
-
(2007)
Biosci Rep
, vol.27
, pp. 23-30
-
-
Filosto, M.1
Tomelleri, G.2
Tonin, P.3
-
91
-
-
0025968316
-
Myelin splitting in the spongy lesion in Leigh encephalopathy
-
Kimura S, Kobayashi T, Amemiya F. Myelin splitting in the spongy lesion in Leigh encephalopathy. Pediatr Neurol 1991;7:56-58.
-
(1991)
Pediatr Neurol
, vol.7
, pp. 56-58
-
-
Kimura, S.1
Kobayashi, T.2
Amemiya, F.3
-
92
-
-
0036940016
-
Concentric structure of thalamic lesions in acute necrotizing encephalopathy
-
Mizuguchi M, Hayashi M, Nakano I, et al. Concentric structure of thalamic lesions in acute necrotizing encephalopathy. Neuroradiology 2002;44:489-493.
-
(2002)
Neuroradiology
, vol.44
, pp. 489-493
-
-
Mizuguchi, M.1
Hayashi, M.2
Nakano, I.3
-
93
-
-
12344328447
-
Neurodegenerative disease in infants with multiple congenital malformations-report of two cases
-
Schmidt-Sidor B, Mierzewska H, Turzyniecka M, et al. Neurodegenerative disease in infants with multiple congenital malformations-report of two cases. Folia Neuropathol 2004;42:221-226.
-
(2004)
Folia Neuropathol
, vol.42
, pp. 221-226
-
-
Schmidt-Sidor, B.1
Mierzewska, H.2
Turzyniecka, M.3
-
94
-
-
0036128257
-
Imaging of white matter lesions
-
Barkhof F, Scheltens P. Imaging of white matter lesions. Cerebrovasc Dis 2002;13(suppl 2):21-30.
-
(2002)
Cerebrovasc Dis
, vol.13
, Issue.SUPPL. 2
, pp. 21-30
-
-
Barkhof, F.1
Scheltens, P.2
-
95
-
-
24344463954
-
MR diffusion tensor imaging, fiber tracking, and single-voxel spectroscopy findings in an unusual MELAS case
-
Ducreux D, Nasser G, Lacroix C, et al. MR diffusion tensor imaging, fiber tracking, and single-voxel spectroscopy findings in an unusual MELAS case. Am J Neuroradiol 2005;26:1840-1844.
-
(2005)
Am J Neuroradiol
, vol.26
, pp. 1840-1844
-
-
Ducreux, D.1
Nasser, G.2
Lacroix, C.3
-
96
-
-
77956233741
-
The use of neuroimaging in the diagnosis of mitochondrial disease
-
Friedman SD, Shaw DW, Ishak G, et al. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev 2010;16:129-135.
-
(2010)
Dev Disabil Res Rev
, vol.16
, pp. 129-135
-
-
Friedman, S.D.1
Shaw, D.W.2
Ishak, G.3
-
97
-
-
20444496959
-
MRI findings in an atypical case of Kearns-Sayre syndrome: a case report
-
Sacher M, Fatterpekar GM, Edelstein S, et al. MRI findings in an atypical case of Kearns-Sayre syndrome: a case report. Neuroradiology 2005;47:241-244.
-
(2005)
Neuroradiology
, vol.47
, pp. 241-244
-
-
Sacher, M.1
Fatterpekar, G.M.2
Edelstein, S.3
-
98
-
-
33847064731
-
A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene
-
Hung PC, Wang HS. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. Dev Med Child Neurol 2007;49:65-67.
-
(2007)
Dev Med Child Neurol
, vol.49
, pp. 65-67
-
-
Hung, P.C.1
Wang, H.S.2
-
99
-
-
33748994004
-
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion
-
Vedolin L, de Souza CF, Silveira RS, et al. Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion. Childs Nerv Syst 2006;22:1355-1359.
-
(2006)
Childs Nerv Syst
, vol.22
, pp. 1355-1359
-
-
Vedolin, L.1
de Souza, C.F.2
Silveira, R.S.3
-
101
-
-
0033828222
-
Leigh syndrome: serial MR imaging and clinical follow-up
-
Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. Am J Neuroradiol 2000;21:1502-1509.
-
(2000)
Am J Neuroradiol
, vol.21
, pp. 1502-1509
-
-
Arii, J.1
Tanabe, Y.2
-
102
-
-
18544378181
-
Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies
-
Barragán-Campos HM, Vallée JN, Lô D, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol 2005;62:737-742.
-
(2005)
Arch Neurol
, vol.62
, pp. 737-742
-
-
Barragán-Campos, H.M.1
Vallée, J.N.2
Lô, D.3
|