-
1
-
-
0000238410
-
Diffuse progressive degeneration of the grey matter of the cerebrum
-
Alpers BJ (1931) Diffuse progressive degeneration of the grey matter of the cerebrum. Arch Neurol Psychiatry 25:469–505
-
(1931)
Arch Neurol Psychiatry
, vol.25
, pp. 469-505
-
-
Alpers, B.J.1
-
2
-
-
72449155684
-
The unfoldingclinical spectrum of POLG mutations
-
Blok MJ, van den Bosch BJ, Jongen E et al (2009) The unfoldingclinical spectrum of POLG mutations. J Med Genet 46:776–785
-
(2009)
J Med Genet
, vol.46
, pp. 776-785
-
-
Blok, M.J.1
Van Den Bosch, B.J.2
Jongen, E.3
-
3
-
-
24744464580
-
The common A467Tmutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit
-
Chan SS, Longley MJ, Copeland WC (2005a) The common A467Tmutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J BiolChem 280:31341–31346
-
(2005)
J Biolchem
, vol.280
, pp. 31341-31346
-
-
Chan, S.S.1
Longley, M.J.2
Copeland, W.C.3
-
4
-
-
27844529585
-
Monoallelic POLG expression resulting from missense-mediated decay and alternative splicing in a patient with Alpers syndrome
-
Chan SS, Longley MJ, Naviaux RK, Copeland WC (2005b) Monoallelic POLG expression resulting from missense-mediated decay and alternative splicing in a patient with Alpers syndrome. DNA Repair 4:1381–1389
-
(2005)
DNA Repair
, vol.4
, pp. 1381-1389
-
-
Chan, S.S.1
Longley, M.J.2
Naviaux, R.K.3
Copeland, W.C.4
-
5
-
-
48749129353
-
Migraine and ischemic stroke: A debated question
-
Del Zotto E, Pezzini A, Giossi A, Volonghi I, Padovani A (2008) Migraine and ischemic stroke: a debated question. J Cereb Blood Flow Metab 28:1399–1421
-
(2008)
J Cereb Blood Flow Metab
, vol.28
, pp. 1399-1421
-
-
Del Zotto, E.1
Pezzini, A.2
Giossi, A.3
Volonghi, I.4
Padovani, A.5
-
6
-
-
34248586627
-
MELAS associatedwith mutations in the POLG1 gene
-
Deschauer M, Tennant S, Rokicka A et al (2007) MELAS associatedwith mutations in the POLG1 gene. Neurology 68:1741–1742
-
(2007)
Neurology
, vol.68
, pp. 1741-1742
-
-
Deschauer, M.1
Tennant, S.2
Rokicka, A.3
-
7
-
-
77952938719
-
Rare autosomal dominantPOLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease
-
Hopkins SE, Somoza A, Gilbert DL (2010) Rare autosomal dominantPOLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease. J Child Neurol 25:752–756
-
(2010)
J Child Neurol
, vol.25
, pp. 752-756
-
-
Hopkins, S.E.1
Somoza, A.2
Gilbert, D.L.3
-
8
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerasegamma gene
-
Horvath R, Hudson G, Ferrari G et al (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerasegamma gene. Brain 129:1674–1684
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
-
9
-
-
0037066134
-
Effects of L-arginine on the acute phase of strokes in three patients with MELAS
-
Koga Y, Ishibashi M, Ueki I et al (2002) Effects of L-arginine on the acute phase of strokes in three patients with MELAS. Neurology58:827–828
-
(2002)
Neurology58
, pp. 827-828
-
-
Koga, Y.1
Ishibashi, M.2
Ueki, I.3
-
10
-
-
13844321746
-
L-arginine improves the symptoms of stroke like episodes in MELAS
-
Koga Y, Akita Y, Nishioka J et al (2005) L-arginine improves the symptoms of stroke like episodes in MELAS. Neurology 64:710–712
-
(2005)
Neurology
, vol.64
, pp. 710-712
-
-
Koga, Y.1
Akita, Y.2
Nishioka, J.3
-
11
-
-
33745648369
-
Endothelial dysfunction in MELAS improved by l-arginine supplementation
-
Koga Y, Akita Y, Junko N et al (2006) Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology 66:1766–1769
-
(2006)
Neurology
, vol.66
, pp. 1766-1769
-
-
Koga, Y.1
Akita, Y.2
Junko, N.3
-
13
-
-
33746882137
-
POLG1 mutationsassociated with progressive encephalopathy in childhood
-
Kollberg G, Moslemi AR, Darin N et al (2006) POLG1 mutationsassociated with progressive encephalopathy in childhood. J Neuropathol Exp Neurol 65:758–768
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 758-768
-
-
Kollberg, G.1
Moslemi, A.R.2
Darin, N.3
-
14
-
-
23944456723
-
Functional defects due tospacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome
-
Luoma PT, Luo N, Loscher WN et al (2005) Functional defects due tospacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum Mol Genet14:1907–1920
-
(2005)
Hum Mol Genet14
, pp. 1907-1920
-
-
Luoma, P.T.1
Luo, N.2
Loscher, W.N.3
-
15
-
-
77949464837
-
Polymerase gamma 1 mutations: Clinicalcorrelations
-
Milone M, Massie R (2010) Polymerase gamma 1 mutations: clinicalcorrelations. Neurologist 16:84–91
-
(2010)
Neurologist
, vol.16
, pp. 84-91
-
-
Milone, M.1
Massie, R.2
-
16
-
-
0028810370
-
Alpers’ syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male
-
Montine TJ, Powers JM, Vogel FS, Radtke RA (1995) Alpers’ syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. Clin Neuropathol 14:322–326
-
(1995)
Clin Neuropathol
, vol.14
, pp. 322-326
-
-
Montine, T.J.1
Powers, J.M.2
Vogel, F.S.3
Radtke, R.A.4
-
17
-
-
0032900339
-
Mitochondrial DNA Polymerase gamma Deficiency and mtDNA Depletion in a Child with Alpers’ Syndrome
-
Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH (1999) Mitochondrial DNA Polymerase gamma Deficiency and mtDNA Depletion in a Child with Alpers’ Syndrome. Ann Neurol 45:54–58
-
(1999)
Ann Neurol
, vol.45
, pp. 54-58
-
-
Naviaux, R.K.1
Nyhan, W.L.2
Barshop, B.A.3
Poulton, J.4
Markusic, D.5
Karpinski, N.C.6
Haas, R.H.7
-
18
-
-
2142705756
-
POLG mutations associated with Alpers’ syndrome and mitochondrial DNA depletion
-
Naviaux RK, Nguyen KV (2004) POLG mutations associated with Alpers’ syndrome and mitochondrial DNA depletion. Ann Neurol 55:706–712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
19
-
-
69449091726
-
Diagnosis and therapy in neuro muscular disorders: Diagnosis and new treatments in mitochondrial diseases
-
Rahman S, Hanna MG (2009) Diagnosis and therapy in neuro muscular disorders: diagnosis and new treatments in mitochondrial diseases. J Neurol Neurosurg Psychiatry 80:943–953
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 943-953
-
-
Rahman, S.1
Hanna, M.G.2
-
20
-
-
77953703756
-
Migraine headache and ischemic stroke risk: An updated meta-analysis
-
Spector JT, Kahn SR, Jones MR, Jayakumar M, Dalal D, Nazarian S (2010) Migraine headache and ischemic stroke risk: an updated meta-analysis. Am J Med 123:612–624
-
(2010)
Am J Med
, vol.123
, pp. 612-624
-
-
Spector, J.T.1
Kahn, S.R.2
Jones, M.R.3
Jayakumar, M.4
Dalal, D.5
Nazarian, S.6
-
21
-
-
62149098339
-
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
-
Stewart JD, Tennant S, Powell H et al (2009) Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. J Med Genet 46:209–214
-
(2009)
J Med Genet
, vol.46
, pp. 209-214
-
-
Stewart, J.D.1
Tennant, S.2
Powell, H.3
-
22
-
-
33745685519
-
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases
-
Tzoulis C, Engelsen BA, Telstad W et al (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 14:1685–1692
-
(2006)
Brain
, vol.14
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.A.2
Telstad, W.3
-
23
-
-
0034943967
-
Mutation of POLG is associated with progressive externalophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C (2001) Mutation of POLG is associated with progressive externalophthalmoplegia characterized by mtDNA deletions. Nat Genet28:211–212
-
(2001)
Nat Genet28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
24
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
Wong LJ, Naviaux RK, Brunetti-Pierri N et al (2008) Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29:E150–E172
-
(2008)
Hum Mutat
, vol.29
, pp. E150-E172
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
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