-
1
-
-
0023853775
-
Mitochondrial angiopathy in the cerebral blood vessels of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes)
-
Ohama E., Ohara S., Ikuta F., Tanaka K., Nishizawa M., Miyatake T. Mitochondrial angiopathy in the cerebral blood vessels of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes). No To Shinkei 1988, 40:109-118.
-
(1988)
No To Shinkei
, vol.40
, pp. 109-118
-
-
Ohama, E.1
Ohara, S.2
Ikuta, F.3
Tanaka, K.4
Nishizawa, M.5
Miyatake, T.6
-
2
-
-
0025071822
-
Muscle and brain biopsy in a case of mitochondrial encephalomyopathy. Demonstration of a mitochondrial vasculopathy
-
Coquet M., Fontan D., Vital C., Tudesq N., Baronnet R. Muscle and brain biopsy in a case of mitochondrial encephalomyopathy. Demonstration of a mitochondrial vasculopathy. Ann Pathol 1990, 10:181-186.
-
(1990)
Ann Pathol
, vol.10
, pp. 181-186
-
-
Coquet, M.1
Fontan, D.2
Vital, C.3
Tudesq, N.4
Baronnet, R.5
-
3
-
-
0027452892
-
Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency
-
Müller-Höcker J., Hübner G., Bise K., Förster C., Hauck S., Paetzke I., et al. Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency. Arch Pathol Lab Med 1993, 117:202-210.
-
(1993)
Arch Pathol Lab Med
, vol.117
, pp. 202-210
-
-
Müller-Höcker, J.1
Hübner, G.2
Bise, K.3
Förster, C.4
Hauck, S.5
Paetzke, I.6
-
4
-
-
33745740660
-
Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement
-
Betts J., Jaros E., Perry R.H., Schaefer A.M., Taylor R.W., Abdel-All Z., et al. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 2006, 32:359-373.
-
(2006)
Neuropathol Appl Neurobiol
, vol.32
, pp. 359-373
-
-
Betts, J.1
Jaros, E.2
Perry, R.H.3
Schaefer, A.M.4
Taylor, R.W.5
Abdel-All, Z.6
-
5
-
-
56049119255
-
Mendelian and mitochondrial disorders associated with stroke
-
Silliman S. Mendelian and mitochondrial disorders associated with stroke. J Stroke Cerebrovasc Dis 2002, 11:252-264.
-
(2002)
J Stroke Cerebrovasc Dis
, vol.11
, pp. 252-264
-
-
Silliman, S.1
-
6
-
-
58749101320
-
Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation
-
Iizuka T., Goto Y., Miyakawa S., Sato M., Wang Z., Suzuki K., et al. Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation. J Neurol Sci 2009, 278:35-40.
-
(2009)
J Neurol Sci
, vol.278
, pp. 35-40
-
-
Iizuka, T.1
Goto, Y.2
Miyakawa, S.3
Sato, M.4
Wang, Z.5
Suzuki, K.6
-
7
-
-
0033787056
-
A patient of MELAS with 3271 mutation with fatal outcome after alcohol intake
-
Shinde A., Nakano S., Taguchi Y., Kagawa D., Akiguchi I. A patient of MELAS with 3271 mutation with fatal outcome after alcohol intake. Rinsho Shinkeigaku 2000, 40:561-565.
-
(2000)
Rinsho Shinkeigaku
, vol.40
, pp. 561-565
-
-
Shinde, A.1
Nakano, S.2
Taguchi, Y.3
Kagawa, D.4
Akiguchi, I.5
-
8
-
-
78651505891
-
Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients
-
Kim J.H., Lim M.K., Jeon T.Y., Rha J.H., Eo H., Yoo S.Y., et al. Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients. Korean J Radiol 2011, 12:15-24.
-
(2011)
Korean J Radiol
, vol.12
, pp. 15-24
-
-
Kim, J.H.1
Lim, M.K.2
Jeon, T.Y.3
Rha, J.H.4
Eo, H.5
Yoo, S.Y.6
-
9
-
-
0033027623
-
Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency
-
Morin C., Dubé J., Robinson B.H., Lacroix J., Michaud J., De Braekeleer M., et al. Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency. Ann Neurol 1999, 45:389-392.
-
(1999)
Ann Neurol
, vol.45
, pp. 389-392
-
-
Morin, C.1
Dubé, J.2
Robinson, B.H.3
Lacroix, J.4
Michaud, J.5
De Braekeleer, M.6
-
10
-
-
34249829899
-
Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS - implication of neurovascular cellular mechanism
-
Iizuka T., Sakai F., Ide T., Miyakawa S., Sato M., Yoshii S. Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS - implication of neurovascular cellular mechanism. J Neurol Sci 2007, 257:126-138.
-
(2007)
J Neurol Sci
, vol.257
, pp. 126-138
-
-
Iizuka, T.1
Sakai, F.2
Ide, T.3
Miyakawa, S.4
Sato, M.5
Yoshii, S.6
-
11
-
-
33745648369
-
Endothelial dysfunction in MELAS improved by l-arginine supplementation
-
Koga Y., Akita Y., Junko N., Yatsuga S., Povalko N., Fukiyama R., et al. Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology 2006, 66:1766-1769.
-
(2006)
Neurology
, vol.66
, pp. 1766-1769
-
-
Koga, Y.1
Akita, Y.2
Junko, N.3
Yatsuga, S.4
Povalko, N.5
Fukiyama, R.6
-
12
-
-
77952222323
-
Vascular involvement in the pathogenesis of mitochondrial encephalomyopathies
-
Zhang Z.Q., Niu S.T., Liang X.H., Jian F., Wang Y. Vascular involvement in the pathogenesis of mitochondrial encephalomyopathies. Neurol Res 2010, 32:403-408.
-
(2010)
Neurol Res
, vol.32
, pp. 403-408
-
-
Zhang, Z.Q.1
Niu, S.T.2
Liang, X.H.3
Jian, F.4
Wang, Y.5
-
13
-
-
22044446263
-
Brain single photon emission computed tomography in patients with A3243G mutation in mitochondrial DNA tRNA
-
Thajeb P., Wu M.C., Shih B.F., Tzen C.Y., Chiang M.F., Yuan R.Y. Brain single photon emission computed tomography in patients with A3243G mutation in mitochondrial DNA tRNA. Ann NY Acad Sci 2005, 1042:48-54.
-
(2005)
Ann NY Acad Sci
, vol.1042
, pp. 48-54
-
-
Thajeb, P.1
Wu, M.C.2
Shih, B.F.3
Tzen, C.Y.4
Chiang, M.F.5
Yuan, R.Y.6
-
15
-
-
59649121556
-
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
-
Tiranti V., Viscomi C., Hildebrandt T., Di Meo I., Mineri R., Tiveron C., et al. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 2009, 15:200-205.
-
(2009)
Nat Med
, vol.15
, pp. 200-205
-
-
Tiranti, V.1
Viscomi, C.2
Hildebrandt, T.3
Di Meo, I.4
Mineri, R.5
Tiveron, C.6
-
16
-
-
0029011225
-
Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy
-
Harding A.E., Riordan-Eva P., Govan G.G. Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy. Muscle Nerve 1995, 3:S82-S84.
-
(1995)
Muscle Nerve
, vol.3
-
-
Harding, A.E.1
Riordan-Eva, P.2
Govan, G.G.3
-
17
-
-
0031717749
-
Diagnostic error in Leber's optic neuropathy. Value of clinical and molecular genetic studies
-
Leo-Kottler B., Christ-Adler M., Wissinger B., Zrenner E. Diagnostic error in Leber's optic neuropathy. Value of clinical and molecular genetic studies. Ophthalmologe 1998, 95:549-554.
-
(1998)
Ophthalmologe
, vol.95
, pp. 549-554
-
-
Leo-Kottler, B.1
Christ-Adler, M.2
Wissinger, B.3
Zrenner, E.4
-
18
-
-
0036938993
-
A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy
-
Luberichs J., Leo-Kottler B., Besch D., Fauser S. A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy. Graefes Arch Clin Exp Ophthalmol 2002, 240:96-100.
-
(2002)
Graefes Arch Clin Exp Ophthalmol
, vol.240
, pp. 96-100
-
-
Luberichs, J.1
Leo-Kottler, B.2
Besch, D.3
Fauser, S.4
-
19
-
-
33645691818
-
Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families
-
Martin-Kleiner I., Gabrilovac J., Bradvica M., Vidović T., Cerovski B., Fumić K., et al. Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Coll Antropol 2006, 30:171-174.
-
(2006)
Coll Antropol
, vol.30
, pp. 171-174
-
-
Martin-Kleiner, I.1
Gabrilovac, J.2
Bradvica, M.3
Vidović, T.4
Cerovski, B.5
Fumić, K.6
-
20
-
-
10744227920
-
Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy
-
Sadun F., De Negri A.M., Carelli V., Salomao S.R., Berezovsky A., Andrade R., et al. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 2004, 137:271-277.
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 271-277
-
-
Sadun, F.1
De Negri, A.M.2
Carelli, V.3
Salomao, S.R.4
Berezovsky, A.5
Andrade, R.6
-
21
-
-
37548998553
-
Woman with atypical unilateral Leber's hereditary optic neuropathy with visual improvement
-
Sugisaka E., Ohde H., Shinoda K., Mashima Y. Woman with atypical unilateral Leber's hereditary optic neuropathy with visual improvement. Clin Exp Ophthalmol 2007, 35:868-870.
-
(2007)
Clin Exp Ophthalmol
, vol.35
, pp. 868-870
-
-
Sugisaka, E.1
Ohde, H.2
Shinoda, K.3
Mashima, Y.4
-
22
-
-
0030059395
-
Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome
-
Oshima T., Ueda N., Ikeda K., Abe K., Takasaka T. Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome. Laryngoscope 1996, 106:43-48.
-
(1996)
Laryngoscope
, vol.106
, pp. 43-48
-
-
Oshima, T.1
Ueda, N.2
Ikeda, K.3
Abe, K.4
Takasaka, T.5
-
23
-
-
79952110748
-
Mitochondrial arteriopathy as a cause of spontaneous dissection of cerebral arteries
-
Kalashnikova L.A., Sakharova A.V., Dobrynina L.A., Mir-Kasimov M.F., Chaikovskaia R.P., Konovalov R.N., et al. Mitochondrial arteriopathy as a cause of spontaneous dissection of cerebral arteries. Zh Nevrol Psikhiatr Im S S Korsakova 2010, 110(suppl 2):3-11.
-
(2010)
Zh Nevrol Psikhiatr Im S S Korsakova
, vol.110
, Issue.SUPPL. 2
, pp. 3-11
-
-
Kalashnikova, L.A.1
Sakharova, A.V.2
Dobrynina, L.A.3
Mir-Kasimov, M.F.4
Chaikovskaia, R.P.5
Konovalov, R.N.6
-
24
-
-
79956260989
-
Dilation of the aortic root in mitochondrial disease patients
-
Brunetti-Pierri N., Pignatelli R., Fouladi N., Towbin J.A., Belmont J.W., Craigen W.J., et al. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab 2011, 103:167-170.
-
(2011)
Mol Genet Metab
, vol.103
, pp. 167-170
-
-
Brunetti-Pierri, N.1
Pignatelli, R.2
Fouladi, N.3
Towbin, J.A.4
Belmont, J.W.5
Craigen, W.J.6
-
25
-
-
32944477705
-
Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
-
Tay S.H., Nordli D.R., Bonilla E., Null E., Monaco S., Hirano M., et al. Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Arch Neurol 2006, 63:281-283.
-
(2006)
Arch Neurol
, vol.63
, pp. 281-283
-
-
Tay, S.H.1
Nordli, D.R.2
Bonilla, E.3
Null, E.4
Monaco, S.5
Hirano, M.6
-
26
-
-
84992884100
-
Mitochondrial disorder overlapping with aorto-iliac occlusive disease (Leriche syndrome)
-
Finsterer J. Mitochondrial disorder overlapping with aorto-iliac occlusive disease (Leriche syndrome). Scot Med J 2008, 53:65-71.
-
(2008)
Scot Med J
, vol.53
, pp. 65-71
-
-
Finsterer, J.1
-
27
-
-
27544494736
-
Mitochondrial-dependent apoptosis in experimental rodent abdominal aortic aneurysms
-
Sinha I., Sinha-Hikim A.P., Hannawa K.K., Henke P.K., Eagleton M.J., Stanley J.C., et al. Mitochondrial-dependent apoptosis in experimental rodent abdominal aortic aneurysms. Surgery 2005, 138:806-811.
-
(2005)
Surgery
, vol.138
, pp. 806-811
-
-
Sinha, I.1
Sinha-Hikim, A.P.2
Hannawa, K.K.3
Henke, P.K.4
Eagleton, M.J.5
Stanley, J.C.6
-
28
-
-
69749111989
-
MELAS: clinical features, muscle biopsy and molecular genetics
-
Lorenzoni P.J., Scola R.H., Kay C.S., Arndt R.C., Freund A.A., Bruck I., et al. MELAS: clinical features, muscle biopsy and molecular genetics. Arq Neuropsiquiatr 2009, 67:668-676.
-
(2009)
Arq Neuropsiquiatr
, vol.67
, pp. 668-676
-
-
Lorenzoni, P.J.1
Scola, R.H.2
Kay, C.S.3
Arndt, R.C.4
Freund, A.A.5
Bruck, I.6
-
29
-
-
0026708671
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation
-
Goto Y., Horai S., Matsuoka T., Koga Y., Nihei K., Kobayashi M., et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992, 42:545-550.
-
(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
-
30
-
-
0030471049
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with chronic renal failure: report of mother-child cases
-
Ihara M., Tanaka H., Yashiro M., Nishimura Y. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with chronic renal failure: report of mother-child cases. Rinsho Shinkeigaku 1996, 36:1069-1073.
-
(1996)
Rinsho Shinkeigaku
, vol.36
, pp. 1069-1073
-
-
Ihara, M.1
Tanaka, H.2
Yashiro, M.3
Nishimura, Y.4
-
31
-
-
0032458587
-
Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254
-
Mitsuoka T., Kawarai T., Watanabe C., Katayama S., Nakamura S. Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254. No To Shinkei 1998, 50:1089-1092.
-
(1998)
No To Shinkei
, vol.50
, pp. 1089-1092
-
-
Mitsuoka, T.1
Kawarai, T.2
Watanabe, C.3
Katayama, S.4
Nakamura, S.5
-
32
-
-
0026633172
-
Vascular pathology in chronic progressive external ophthalmoplegia with ragged-red fibers
-
Hasegawa H., Matsuoka T., Goto Y., Nonaka I. Vascular pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. Rinsho Shinkeigaku 1992, 32:155-160.
-
(1992)
Rinsho Shinkeigaku
, vol.32
, pp. 155-160
-
-
Hasegawa, H.1
Matsuoka, T.2
Goto, Y.3
Nonaka, I.4
-
33
-
-
0027412399
-
Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers
-
Hasegawa H., Matsuoka T., Goto Y., Nonaka I. Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers. Acta Neuropathol 1993, 85:280-284.
-
(1993)
Acta Neuropathol
, vol.85
, pp. 280-284
-
-
Hasegawa, H.1
Matsuoka, T.2
Goto, Y.3
Nonaka, I.4
-
34
-
-
0027865639
-
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene
-
Zeviani M., Muntoni F., Savarese N., Serra G., Tiranti V., Carrara F., et al. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1993, 1:80-87.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 80-87
-
-
Zeviani, M.1
Muntoni, F.2
Savarese, N.3
Serra, G.4
Tiranti, V.5
Carrara, F.6
-
35
-
-
0026347397
-
A case of mitochondrial encephalomyopathy with schizophrenic psychosis, dementia and neuroleptic malignant syndrome
-
Yamazaki M., Igarashi H., Hamamoto M., Miyazaki T., Nonaka I. A case of mitochondrial encephalomyopathy with schizophrenic psychosis, dementia and neuroleptic malignant syndrome. Rinsho Shinkeigaku 1991, 31:1219-1223.
-
(1991)
Rinsho Shinkeigaku
, vol.31
, pp. 1219-1223
-
-
Yamazaki, M.1
Igarashi, H.2
Hamamoto, M.3
Miyazaki, T.4
Nonaka, I.5
-
36
-
-
0027788168
-
Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies
-
Coquet M., Degoul F., Vital A., Malgat M., Mazat J.P., Louvet-Giendaj C., et al. Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies. Neuromuscul Disord 1993, 3:593-597.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 593-597
-
-
Coquet, M.1
Degoul, F.2
Vital, A.3
Malgat, M.4
Mazat, J.P.5
Louvet-Giendaj, C.6
-
37
-
-
79953322206
-
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement
-
M110.002964
-
Vattemi G., Mechref Y., Marini M., Tonin P., Minuz P., Grigoli L., et al. Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement. Mol Cell Proteomics 2011, 10. M110.002964.
-
(2011)
Mol Cell Proteomics
, vol.10
-
-
Vattemi, G.1
Mechref, Y.2
Marini, M.3
Tonin, P.4
Minuz, P.5
Grigoli, L.6
-
38
-
-
0029001416
-
A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis
-
Kamphorst W., Haasnoot K.J., Wegener R.P., Dorsman W.H. A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis. Clin Neuropathol 1995, 14:211-215.
-
(1995)
Clin Neuropathol
, vol.14
, pp. 211-215
-
-
Kamphorst, W.1
Haasnoot, K.J.2
Wegener, R.P.3
Dorsman, W.H.4
-
39
-
-
78349250598
-
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families
-
Cevoli S., Pallotti F., La Morgia C., Valentino M.L., Pierangeli G., Cortelli P., et al. High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families. Cephalalgia 2010, 30:919-927.
-
(2010)
Cephalalgia
, vol.30
, pp. 919-927
-
-
Cevoli, S.1
Pallotti, F.2
La Morgia, C.3
Valentino, M.L.4
Pierangeli, G.5
Cortelli, P.6
-
40
-
-
0035992367
-
Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report
-
Fujitake J., Mizuta H., Fujii H., Ishikawa Y., Sasamoto K., Goto Y., et al. Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report. Acta Neurol Belg 2002, 102:82-86.
-
(2002)
Acta Neurol Belg
, vol.102
, pp. 82-86
-
-
Fujitake, J.1
Mizuta, H.2
Fujii, H.3
Ishikawa, Y.4
Sasamoto, K.5
Goto, Y.6
-
41
-
-
65649149431
-
A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis
-
Tam E.W., Feigenbaum A., Addis J.B., Blaser S., Mackay N., Al-Dosary M., et al. A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis. Neuropediatrics 2008, 39:328-334.
-
(2008)
Neuropediatrics
, vol.39
, pp. 328-334
-
-
Tam, E.W.1
Feigenbaum, A.2
Addis, J.B.3
Blaser, S.4
Mackay, N.5
Al-Dosary, M.6
-
42
-
-
67849115937
-
L-arginine efficiency in MLAS syndrome. A case report
-
Moutaouakil F., El Otmani H., Fadel H., Sefrioui F., Slassi I. L-arginine efficiency in MLAS syndrome. A case report. Rev Neurol (Paris) 2009, 165:482-485.
-
(2009)
Rev Neurol (Paris)
, vol.165
, pp. 482-485
-
-
Moutaouakil, F.1
El Otmani, H.2
Fadel, H.3
Sefrioui, F.4
Slassi, I.5
-
43
-
-
0025853407
-
MELAS of infantile onset: mitochondrial angiopathy or cytopathy?
-
Fujii T., Okuno T., Ito M., Mutoh K., Horiguchi Y., Tashiro H., et al. MELAS of infantile onset: mitochondrial angiopathy or cytopathy?. J Neurol Sci 1991, 103:37-41.
-
(1991)
J Neurol Sci
, vol.103
, pp. 37-41
-
-
Fujii, T.1
Okuno, T.2
Ito, M.3
Mutoh, K.4
Horiguchi, Y.5
Tashiro, H.6
-
44
-
-
0029971093
-
The T-C(8356) mitochondrial DNA mutation in a Japanese family
-
Sano M., Ozawa M., Shiota S., Momose Y., Uchigata M., Goto Y. The T-C(8356) mitochondrial DNA mutation in a Japanese family. J Neurol 1996, 243:441-444.
-
(1996)
J Neurol
, vol.243
, pp. 441-444
-
-
Sano, M.1
Ozawa, M.2
Shiota, S.3
Momose, Y.4
Uchigata, M.5
Goto, Y.6
-
45
-
-
0037465366
-
Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation
-
Cupini L.M., Massa R., Floris R., Manenti G., Martini B., Tessa A., et al. Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation. Neurology 2003, 60:717-719.
-
(2003)
Neurology
, vol.60
, pp. 717-719
-
-
Cupini, L.M.1
Massa, R.2
Floris, R.3
Manenti, G.4
Martini, B.5
Tessa, A.6
-
46
-
-
41649105167
-
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus
-
La Morgia C., Achilli A., Iommarini L., Barboni P., Pala M., Olivieri A., et al. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology 2008, 70:762-770.
-
(2008)
Neurology
, vol.70
, pp. 762-770
-
-
La Morgia, C.1
Achilli, A.2
Iommarini, L.3
Barboni, P.4
Pala, M.5
Olivieri, A.6
-
47
-
-
79952277707
-
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia
-
Pfeffer G., Sirrs S., Wade N.K., Mezei M.M. Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. Can J Neurol Sci 2011, 38:119-123.
-
(2011)
Can J Neurol Sci
, vol.38
, pp. 119-123
-
-
Pfeffer, G.1
Sirrs, S.2
Wade, N.K.3
Mezei, M.M.4
-
48
-
-
73449108054
-
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C
-
Dermaut B., Seneca S., Dom L., Smets K., Ceulemans L., Smet J., et al. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. J Neurol Neurosurg Psychiatry 2010, 81:90-93.
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 90-93
-
-
Dermaut, B.1
Seneca, S.2
Dom, L.3
Smets, K.4
Ceulemans, L.5
Smet, J.6
-
49
-
-
77956809123
-
Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity
-
Hakonen A.H., Isohanni P., Rantamäki M., Kälviäinen R., Nordin A., Uusimaa J., et al. Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity. Duodecim 2010, 126:1552-1559.
-
(2010)
Duodecim
, vol.126
, pp. 1552-1559
-
-
Hakonen, A.H.1
Isohanni, P.2
Rantamäki, M.3
Kälviäinen, R.4
Nordin, A.5
Uusimaa, J.6
-
50
-
-
44849107452
-
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus
-
Uusimaa J., Hinttala R., Rantala H., Päivärinta M., Herva R., Röyttä M., et al. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia 2008, 49:1038-1045.
-
(2008)
Epilepsia
, vol.49
, pp. 1038-1045
-
-
Uusimaa, J.1
Hinttala, R.2
Rantala, H.3
Päivärinta, M.4
Herva, R.5
Röyttä, M.6
|