-
1
-
-
0037972522
-
Mitochondrial respiratory-chain disease
-
DiMauro S, Schon EA. Mitochondrial respiratory-chain disease. N Engl J Med 2003;348:2656-2668.
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
2
-
-
23644436319
-
Disorders of nuclear-mitochondrial intergenomic signaling
-
Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 2006;354:162-168.
-
(2006)
Gene
, vol.354
, pp. 162-168
-
-
Spinazzola, A.1
Zeviani, M.2
-
3
-
-
34347241615
-
-
editor. Neurological therapeutics principles and practice. Rochester, MN: Informa Healthcare;
-
Thyagarajan D. Mitochondrial disease. In: Noseworthy JH, editor. Neurological therapeutics principles and practice. Rochester, MN: Informa Healthcare; 2006. p 1743-1758.
-
(2006)
Mitochondrial disease
, pp. 1743-1758
-
-
Thyagarajan, D.1
-
5
-
-
0033768121
-
A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness and neuropathy
-
Thyagarajan D, Bressman S, Bruno C, et al. A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness and neuropathy. Ann Neurol 2000;48:730-736.
-
(2000)
Ann Neurol
, vol.48
, pp. 730-736
-
-
Thyagarajan, D.1
Bressman, S.2
Bruno, C.3
-
6
-
-
0033767317
-
An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production
-
Rana M, Coo I, Diaz F, Smeets H, Moraes CT. An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production. Ann Neurol 2000;48:774-781.
-
(2000)
Ann Neurol
, vol.48
, pp. 774-781
-
-
Rana, M.1
Coo, I.2
Diaz, F.3
Smeets, H.4
Moraes, C.T.5
-
7
-
-
0030297454
-
Mitochondrial encephalomyopathy with multiple mitochondrial DNA deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features
-
Chalmers RM, Brockington M, Howard RS, Lecky BRF, Morgan-Hughes JA, Harding AE. Mitochondrial encephalomyopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci 1996;143:41-45.
-
(1996)
J Neurol Sci
, vol.143
, pp. 41-45
-
-
Chalmers, R.M.1
Brockington, M.2
Howard, R.S.3
Lecky, B.R.F.4
Morgan-Hughes, J.A.5
Harding, A.E.6
-
8
-
-
33644543761
-
Expanding insights of mitochondrial dysfunction in Parkinson's disease
-
Abou-Sleiman PM, Muqit MMK, Wood NW. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nature Rev 2006;7:207-219.
-
(2006)
Nature Rev
, vol.7
, pp. 207-219
-
-
Abou-Sleiman, P.M.1
Muqit, M.M.K.2
Wood, N.W.3
-
9
-
-
33646375711
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson Disease
-
Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson Disease. Nat Genet 2006;38:515-517.
-
(2006)
Nat Genet
, vol.38
, pp. 515-517
-
-
Bender, A.1
Krishnan, K.J.2
Morris, C.M.3
-
10
-
-
33646351299
-
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
-
Kraytsberg Y, Kudryavtseva E, McKee AC, Geula G, Kowall NW, Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet 2006;38:518-520.
-
(2006)
Nat Genet
, vol.38
, pp. 518-520
-
-
Kraytsberg, Y.1
Kudryavtseva, E.2
McKee, A.C.3
Geula, G.4
Kowall, N.W.5
Khrapko, K.6
-
11
-
-
0032893995
-
Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
-
Kirby DM, Crawford M, Cleary MA, Dahl H-HM, Dennett X, Thorburn DR. Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder. Neurology 1999;52:1255-1264.
-
(1999)
Neurology
, vol.52
, pp. 1255-1264
-
-
Kirby, D.M.1
Crawford, M.2
Cleary, M.A.3
Dahl, H.-H.M.4
Dennett, X.5
Thorburn, D.R.6
-
12
-
-
0037105957
-
Clinical and molecular features of adPEO due to mutations in the twinkle gene
-
Lewis S, Hutchison W, Thyagarajan D, Dahl H-H. Clinical and molecular features of adPEO due to mutations in the twinkle gene. J. Neurol Sci 2002;201:39-44.
-
(2002)
J. Neurol Sci
, vol.201
, pp. 39-44
-
-
Lewis, S.1
Hutchison, W.2
Thyagarajan, D.3
Dahl, H.-H.4
-
13
-
-
0036651324
-
Presynaptic parkinsonism in multiple system atrophy mimicking Parkinson's disease: A clinicopathological case study
-
Berciano J, Valldeoriola F, Ferrer I, et al. Presynaptic parkinsonism in multiple system atrophy mimicking Parkinson's disease: a clinicopathological case study. Mov Disord 2002;17:812-816.
-
(2002)
Mov Disord
, vol.17
, pp. 812-816
-
-
Berciano, J.1
Valldeoriola, F.2
Ferrer, I.3
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