-
1
-
-
0036901467
-
Stroke in the young in the northern Manhattan stroke study
-
Jacobs BS, Boden-Albala B, Lin IF, Sacco RL. Stroke in the young in the northern Manhattan stroke study. Stroke. 2002;33(12):2789-2793.
-
(2002)
Stroke
, vol.33
, Issue.12
, pp. 2789-2793
-
-
Jacobs, B.S.1
Boden-Albala, B.2
Lin, I.F.3
Sacco, R.L.4
-
3
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249-254.
-
(1999)
JAMA
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
4
-
-
27844440793
-
Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
-
Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005;366(9499):1794-1796.
-
(2005)
Lancet
, vol.366
, Issue.9499
, pp. 1794-1796
-
-
Rolfs, A.1
Böttcher, T.2
Zschiesche, M.3
-
5
-
-
12144287518
-
Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004; 34(3):236-242.
-
(2004)
Eur J Clin Invest
, vol.34
, Issue.3
, pp. 236-242
-
-
Mehta, A.1
Ricci, R.2
Widmer, U.3
-
6
-
-
62449143800
-
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry registry
-
Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry registry. Stroke. 2009;40(3):788-794.
-
(2009)
Stroke
, vol.40
, Issue.3
, pp. 788-794
-
-
Sims, K.1
Politei, J.2
Banikazemi, M.3
Lee, P.4
-
7
-
-
16844381552
-
FOS Investigators. Natural history of the cerebrovascular complications of Fabry disease
-
Mehta A, Ginsberg L; FOS Investigators. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr Suppl. 2005;94(447):24-27.
-
(2005)
Acta Paediatr Suppl
, vol.94
, Issue.447
, pp. 24-27
-
-
Mehta, A.1
Ginsberg, L.2
-
8
-
-
63849192341
-
Diagnostic utility of different MRI and MR angiography measures in Fabry disease
-
Fellgiebel A, Keller I, Marin D, et al. Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology. 2009;72(1):63-68.
-
(2009)
Neurology
, vol.72
, Issue.1
, pp. 63-68
-
-
Fellgiebel, A.1
Keller, I.2
Marin, D.3
-
9
-
-
34249800685
-
The cerebral vasculopathy of Fabry disease
-
Moore DF, Kaneski CR, Askari H, Schiffmann R. The cerebral vasculopathy of Fabry disease. J Neurol Sci. 2007;257(1-2):258-263.
-
(2007)
J Neurol Sci
, vol.257
, Issue.1-2
, pp. 258-263
-
-
Moore, D.F.1
Kaneski, C.R.2
Askari, H.3
Schiffmann, R.4
-
10
-
-
13444283308
-
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency
-
Bodary PF, Shen Y, Vargas FB, et al. Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency. Circulation. 2005; 111(5):629-632.
-
(2005)
Circulation
, vol.111
, Issue.5
, pp. 629-632
-
-
Bodary, P.F.1
Shen, Y.2
Vargas, F.B.3
-
11
-
-
0036980792
-
Endothelial markers and homocysteine in patients with classic Fabry disease
-
Demuth K, Germain DP. Endothelial markers and homocysteine in patients with classic Fabry disease. Acta Paediatr Suppl. 2002;91(439):57-61.
-
(2002)
Acta Paediatr Suppl
, vol.91
, Issue.439
, pp. 57-61
-
-
Demuth, K.1
Germain, D.P.2
-
12
-
-
34249977819
-
High incidence of autoantibodies in Fabry disease patients
-
Martinez P, Aggio M, Rozenfeld P. High incidence of autoantibodies in Fabry disease patients. J Inherit Metab Dis. 2007;30(3):365-369.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.3
, pp. 365-369
-
-
Martinez, P.1
Aggio, M.2
Rozenfeld, P.3
-
13
-
-
21144431735
-
Effect of genetic modifiers on cerebral lesions in Fabry disease
-
Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology. 2005;64(12):2148-2150.
-
(2005)
Neurology
, vol.64
, Issue.12
, pp. 2148-2150
-
-
Altarescu, G.1
Moore, D.F.2
Schiffmann, R.3
-
14
-
-
0347123263
-
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions
-
Moore DF, Altarescu G, Barker WC, Patronas NJ, Herscovitch P, Schiffmann R. White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions. Brain Res Bull. 2003;62(3):231-240.
-
(2003)
Brain Res Bull
, vol.62
, Issue.3
, pp. 231-240
-
-
Moore, D.F.1
Altarescu, G.2
Barker, W.C.3
Patronas, N.J.4
Herscovitch, P.5
Schiffmann, R.6
-
15
-
-
33745571225
-
Pattern of microstructural brain tissue alterations in Fabry disease
-
Fellgiebel A, Mazanek M, Whybra C, et al. Pattern of microstructural brain tissue alterations in Fabry disease. J Neurol. 2006;253(6):780-787.
-
(2006)
J Neurol
, vol.253
, Issue.6
, pp. 780-787
-
-
Fellgiebel, A.1
Mazanek, M.2
Whybra, C.3
-
16
-
-
0035811624
-
International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, et al; International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med. 2001;345(1):9-16.
-
(2001)
N Engl J Med
, vol.345
, Issue.1
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
17
-
-
34250723911
-
FOS European Investigators. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy: A retrospective analysis from the Fabry Outcome Survey
-
Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A; FOS European Investigators. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy: a retrospective analysis from the Fabry Outcome Survey. Clin J Pain. 2007;23(6):535-542.
-
(2007)
Clin J Pain
, vol.23
, Issue.6
, pp. 535-542
-
-
Hoffmann, B.1
Beck, M.2
Sunder-Plassmann, G.3
Borsini, W.4
Ricci, R.5
Mehta, A.6
-
18
-
-
55249121867
-
Central nervous system involvement in Anderson-Fabry disease: A clinical and MRI retrospective study
-
Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 2008;79(11):1249-1254.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, Issue.11
, pp. 1249-1254
-
-
Buechner, S.1
Moretti, M.2
Burlina, A.P.3
-
19
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder
-
Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder. Ann Intern Med. 2003;138(4):338-346.
-
(2003)
Ann Intern Med
, vol.138
, Issue.4
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
-
20
-
-
52449090507
-
American Heart Association Stroke Council; Council on Cardiovascular Disease in the Young. Management of stroke in infants and children: A scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young
-
Roach ES, Golomb MR, Adams R, et al; American Heart Association Stroke Council; Council on Cardiovascular Disease in the Young. Management of stroke in infants and children: a scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young. Stroke. 2008;39(9):2644-2691.
-
(2008)
Stroke
, vol.39
, Issue.9
, pp. 2644-2691
-
-
Roach, E.S.1
Golomb, M.R.2
Adams, R.3
-
21
-
-
33646403198
-
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants
-
Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol. 2006;290(4):C1076-C1082.
-
(2006)
Am J Physiol Cell Physiol
, vol.290
, Issue.4
-
-
Yam, G.H.1
Bosshard, N.2
Zuber, C.3
Steinmann, B.4
Roth, J.5
-
22
-
-
7044284796
-
Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: A biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
-
Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim Biophys Acta. 2004;1690(3):250-257.
-
(2004)
Biochim Biophys Acta
, vol.1690
, Issue.3
, pp. 250-257
-
-
Ishii, S.1
Yoshioka, H.2
Mannen, K.3
Kulkarni, A.B.4
Fan, J.Q.5
-
23
-
-
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, 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(3 pt 1):545-550.
-
(1992)
Neurology
, vol.42
, Issue.3 PART 1
, pp. 545-550
-
-
Goto, Y.1
Horai, S.2
Matsuoka, T.3
-
24
-
-
33947278405
-
Population prevalence of the MELAS A3243G mutation
-
Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion. 2007;7(3):230-233.
-
(2007)
Mitochondrion
, vol.7
, Issue.3
, pp. 230-233
-
-
Manwaring, N.1
Jones, M.M.2
Wang, J.J.3
-
25
-
-
0032763818
-
Vasogenic edema on MELAS: A serial study with diffusion-weighted MR imaging
-
Yoneda M, Maeda M, Kimura H, Fujii A, Katayama K, Kuriyama M. Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging. Neurology. 1999;53(9):2182-2184.
-
(1999)
Neurology
, vol.53
, Issue.9
, pp. 2182-2184
-
-
Yoneda, M.1
Maeda, M.2
Kimura, H.3
Fujii, A.4
Katayama, K.5
Kuriyama, M.6
-
26
-
-
18844415552
-
Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Takahashi N, Shimada T, Murakami Y, et al. Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Am J Med Sci. 2005;329(5):265-266.
-
(2005)
Am J Med Sci
, vol.329
, Issue.5
, pp. 265-266
-
-
Takahashi, N.1
Shimada, T.2
Murakami, Y.3
-
27
-
-
45849142222
-
Serial brain imaging analysis of stroke-like episodes in MELAS
-
Ito H, Mori K, Harada M, et al. Serial brain imaging analysis of stroke-like episodes in MELAS. Brain Dev. 2008;30(7):483-488.
-
(2008)
Brain Dev
, vol.30
, Issue.7
, pp. 483-488
-
-
Ito, H.1
Mori, K.2
Harada, M.3
-
28
-
-
0028882549
-
Cerebral metabolism of oxygen and glucose in a patient with MELAS syndrome
-
Sano M, Ishii K, Momose Y, Uchigata M, Senda M. Cerebral metabolism of oxygen and glucose in a patient with MELAS syndrome. Acta Neurol Scand. 1995; 92(6):497-502.
-
(1995)
Acta Neurol Scand
, vol.92
, Issue.6
, pp. 497-502
-
-
Sano, M.1
Ishii, K.2
Momose, Y.3
Uchigata, M.4
Senda, M.5
-
29
-
-
0037167550
-
Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome
-
Iizuka T, Sakai F, Suzuki N, et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology. 2002;59(6):816-824.
-
(2002)
Neurology
, vol.59
, Issue.6
, pp. 816-824
-
-
Iizuka, T.1
Sakai, F.2
Suzuki, N.3
-
30
-
-
33846348269
-
Evaluation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy
-
Feng F, You H, Gao J, et al. Evaluation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy. Chin Med Sci J. 2006;21(4):234-238.
-
(2006)
Chin Med Sci J
, vol.21
, Issue.4
, pp. 234-238
-
-
Feng, F.1
You, H.2
Gao, J.3
-
31
-
-
0026566806
-
Central nervous system changes in mitochondrial encephalomyopathy: Light and electron microscopic study
-
Mizukami K, Sasaki M, Suzuki T, et al. Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. Acta Neuropathol. 1992;83(4):449-452.
-
(1992)
Acta Neuropathol
, vol.83
, Issue.4
, pp. 449-452
-
-
Mizukami, K.1
Sasaki, M.2
Suzuki, T.3
-
32
-
-
33847000236
-
Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders
-
Rodriguez MC, MacDonald JR, Mahoney DJ, Parise G, Beal MF, Tarnopolsky MA. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve. 2007;35(2):235-242.
-
(2007)
Muscle Nerve
, vol.35
, Issue.2
, pp. 235-242
-
-
Rodriguez, M.C.1
MacDonald, J.R.2
Mahoney, D.J.3
Parise, G.4
Beal, M.F.5
Tarnopolsky, M.A.6
-
33
-
-
0034443753
-
Long-term treatment with idebenone and riboflavin in a patient with MELAS
-
Napolitano A, Salvetti S, Vista M, Lombardi V, Siciliano G, Giraldi C. Long-term treatment with idebenone and riboflavin in a patient with MELAS. Neurol Sci. 2000; 21(5)(suppl):S981-S982.
-
(2000)
Neurol Sci
, vol.21
, Issue.5 SUPPL.
-
-
Napolitano, A.1
Salvetti, S.2
Vista, M.3
Lombardi, V.4
Siciliano, G.5
Giraldi, C.6
-
34
-
-
33646202306
-
Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial
-
Kaufmann P, Engelstad K, Wei Y, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006;66(3):324-330.
-
(2006)
Neurology
, vol.66
, Issue.3
, pp. 324-330
-
-
Kaufmann, P.1
Engelstad, K.2
Wei, Y.3
-
35
-
-
33745648369
-
Endothelial dysfunction in MELAS improved by l-arginine supplementation
-
Koga Y, Akita Y, Junko N, et al. Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology. 2006;66(11):1766-1769.
-
(2006)
Neurology
, vol.66
, Issue.11
, pp. 1766-1769
-
-
Koga, Y.1
Akita, Y.2
Junko, N.3
-
36
-
-
33744823262
-
-
Scaglia F, Northrop JL. The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options [erratum appears in CNS Drugs. 2008;22(1):81]. CNS Drugs. 2006;20(6):443-464.
-
Scaglia F, Northrop JL. The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options [erratum appears in CNS Drugs. 2008;22(1):81]. CNS Drugs. 2006;20(6):443-464.
-
-
-
-
37
-
-
33745350363
-
A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA
-
Majamaa-Voltti KA, Winqvist S, Remes AM, et al. A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA. Neurology. 2006;66(10): 1470-1475.
-
(2006)
Neurology
, vol.66
, Issue.10
, pp. 1470-1475
-
-
Majamaa-Voltti, K.A.1
Winqvist, S.2
Remes, A.M.3
-
38
-
-
34147115162
-
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases
-
Debray FG, Lambert M, Chevalier I, et al. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics. 2007; 119(4):722-733.
-
(2007)
Pediatrics
, vol.119
, Issue.4
, pp. 722-733
-
-
Debray, F.G.1
Lambert, M.2
Chevalier, I.3
|