-
1
-
-
0032995311
-
Improved brain and muscle mitochondrial respiration with CoQ. An in vivo study by 31P-MR spectroscopy in patients with mitochondrial cytopathies
-
Barbiroli B, Iotti S, Lodi R (1999) Improved brain and muscle mitochondrial respiration with CoQ. An in vivo study by 31P-MR spectroscopy in patients with mitochondrial cytopathies. Biofactors 9: 253-260.
-
(1999)
Biofactors
, vol.9
, pp. 253-260
-
-
Barbiroli, B.1
Iotti, S.2
Lodi, R.3
-
2
-
-
0037321655
-
Neuro-ophthalmology of mitochondrial diseases
-
Biousse V, Newman NJ (2003) Neuro-ophthalmology of mitochondrial diseases. Curr Opin Neurol 16: 35-43.
-
(2003)
Curr Opin Neurol
, vol.16
, pp. 35-43
-
-
Biousse, V.1
Newman, N.J.2
-
3
-
-
0014300876
-
Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia
-
Drachman DA (1968) Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 18: 654-674.
-
(1968)
Arch Neurol
, vol.18
, pp. 654-674
-
-
Drachman, D.A.1
-
4
-
-
0031697364
-
Genotyping in urine: an interesting tool for epidemiological studies
-
Haufroid V, Clippe A, Knoops B et al (1998) Genotyping in urine: an interesting tool for epidemiological studies. Clin Chem 44: 2210-2211.
-
(1998)
Clin Chem
, vol.44
, pp. 2210-2211
-
-
Haufroid, V.1
Clippe, A.2
Knoops, B.3
-
6
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Unusual syndrome with histologic study in one of two cases
-
Kearns T, Sayre G (1958) Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 60: 280-289.
-
(1958)
Arch Ophthalmol
, vol.60
, pp. 280-289
-
-
Kearns, T.1
Sayre, G.2
-
7
-
-
29744457780
-
Tissue-specific mtDNA lesions and radical-associated mitochondrial dysfunction in human hearts exposed to doxorubicin
-
Lebrecht D, Kokkori A, Ketelsen UP et al (2005) Tissue-specific mtDNA lesions and radical-associated mitochondrial dysfunction in human hearts exposed to doxorubicin. J Pathol 207: 436-444.
-
(2005)
J Pathol
, vol.207
, pp. 436-444
-
-
Lebrecht, D.1
Kokkori, A.2
Ketelsen, U.P.3
-
8
-
-
0023877476
-
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
-
Lestienne P, Ponsot G (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet 1: 885.
-
(1988)
Lancet
, vol.1
, pp. 885
-
-
Lestienne, P.1
Ponsot, G.2
-
9
-
-
40649104716
-
Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue
-
Markaryan A, Nelson EG, Hinojosa R (2008) Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue. Mutat Res 640: 38-45.
-
(2008)
Mutat Res
, vol.640
, pp. 38-45
-
-
Markaryan, A.1
Nelson, E.G.2
Hinojosa, R.3
-
10
-
-
0026717291
-
Remission of Leber's hereditary optic neuropathy with idebenone
-
Mashima Y, Hiida Y, Oguchi Y (1992) Remission of Leber's hereditary optic neuropathy with idebenone. Lancet 340: 368-369.
-
(1992)
Lancet
, vol.340
, pp. 368-369
-
-
Mashima, Y.1
Hiida, Y.2
Oguchi, Y.3
-
11
-
-
33847176234
-
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation
-
Mayr JA, Merkel O, Kohlwein SD et al (2007) Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet 80: 478-484.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 478-484
-
-
Mayr, J.A.1
Merkel, O.2
Kohlwein, S.D.3
-
12
-
-
0032507986
-
A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up
-
Mohri I, Taniike M, Fujimura H et al (1998) A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up. J Neurol Sci 158: 106-109.
-
(1998)
J Neurol Sci
, vol.158
, pp. 106-109
-
-
Mohri, I.1
Taniike, M.2
Fujimura, H.3
-
13
-
-
4644307102
-
Kearns-Sayre syndrome -3 case reports and review of clinical feature
-
Park SB, Ma KT, Kook KH et al (2004) Kearns-Sayre syndrome -3 case reports and review of clinical feature. Yonsei Med J 45: 727-735.
-
(2004)
Yonsei Med J
, vol.45
, pp. 727-735
-
-
Park, S.B.1
Ma, K.T.2
Kook, K.H.3
-
14
-
-
0004925580
-
Diverse cinical disorders associated with morphological abnormalities of mitochondria
-
In: Scarlato G, Cerri C (Hrsg), Piccin Medical Books, Padova, S
-
Rowland L, Hays A, Di Mauro S et al (1983) Diverse cinical disorders associated with morphological abnormalities of mitochondria. In: Scarlato G, Cerri C (Hrsg) Mitochondrial pathology in muscle diseases. Piccin Medical Books, Padova, S 141-158.
-
(1983)
Mitochondrial pathology in muscle diseases
, pp. 141-158
-
-
Rowland, L.1
Hays, A.2
Di Mauro, S.3
-
15
-
-
21444446341
-
Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis
-
Schaefer AM, Blakely EL, Griffiths PG et al (2005) Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. Muscle Nerve 32: 104-107.
-
(2005)
Muscle Nerve
, vol.32
, pp. 104-107
-
-
Schaefer, A.M.1
Blakely, E.L.2
Griffiths, P.G.3
-
16
-
-
77955417913
-
Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
-
Serrano M, Garcia-Silva MT, Martin-Hernandez E et al (2010) Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion.
-
(2010)
Mitochondrion
-
-
Serrano, M.1
Garcia-Silva, M.T.2
Martin-Hernandez, E.3
-
18
-
-
46449088130
-
Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome: interdisciplinary diagnosis and therapy; Chronisch-progressive externe Ophthalmoplegie und Kearns-Sayre-Syndrom: Interdisziplinäre Diagnostik und Therapie
-
Wabbels B, Ali N, Kunz WS et al (2008) Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome: interdisciplinary diagnosis and therapy; Chronisch-progressive externe Ophthalmoplegie und Kearns-Sayre-Syndrom: Interdisziplinäre Diagnostik und Therapie. Ophthalmologe 105: 550-556.
-
(2008)
Ophthalmologe
, vol.105
, pp. 550-556
-
-
Wabbels, B.1
Ali, N.2
Kunz, W.S.3
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