-
1
-
-
84055200066
-
2001-2011: A decade of the LADIS (Leukoaraiosis and disability) study: What have we learned about white matter changes and small-vessel disease
-
The LADIS Study Group
-
The LADIS Study Group, Poggesi A, Pantoni L, Inzitari D, Fazekas F, et al (2011) 2001-2011: A decade of the LADIS (Leukoaraiosis and disability) study: What have we learned about white matter changes and small-vessel disease? Cerebrovasc Dis 32: 577-588.
-
(2011)
Cerebrovasc Dis
, vol.32
, pp. 577-588
-
-
Poggesi, A.1
Pantoni, L.2
Inzitari, D.3
Fazekas, F.4
-
2
-
-
33748463827
-
Age, hypertension, and lacunar stroke are the major determinants of the severity of age-related white matter changes. The LADIS (Leukoaraiosis and Disability in the Elderly) Study
-
Basile AM, Pantoni L, Pracucci G, Asplund K, Chabriat H, et al. (2006) Age, hypertension, and lacunar stroke are the major determinants of the severity of age-related white matter changes. The LADIS (Leukoaraiosis and Disability in the Elderly) Study. Cerebrovasc Dis 21: 315-322.
-
(2006)
Cerebrovasc Dis
, vol.21
, pp. 315-322
-
-
Basile, A.M.1
Pantoni, L.2
Pracucci, G.3
Asplund, K.4
Chabriat, H.5
-
3
-
-
78649520555
-
Hereditary and non-hereditary microangiopathies in the young. An up-date
-
Ringelstein EB, Kleffner I, Dittrich R, Kuhlenbaeumer G, Ritter MA, (2010) Hereditary and non-hereditary microangiopathies in the young. An up-date. J Neurol Sci 299: 81-85.
-
(2010)
J Neurol Sci
, vol.299
, pp. 81-85
-
-
Ringelstein, E.B.1
Kleffner, I.2
Dittrich, R.3
Kuhlenbaeumer, G.4
Ritter, M.A.5
-
4
-
-
53749104902
-
Fabry's disease
-
Zarate YA, Hopkins RJ, (2008) Fabry's disease. Lancet 372: 1427-1435.
-
(2008)
Lancet
, vol.372
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkins, R.J.2
-
5
-
-
55249121867
-
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study
-
Buechner S, Moretti M, Burlina AP, Cei G, Manara R, et al. (2008) Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychatry 79: 1249-1254.
-
(2008)
J Neurol Neurosurg Psychatry
, vol.79
, pp. 1249-1254
-
-
Buechner, S.1
Moretti, M.2
Burlina, A.P.3
Cei, G.4
Manara, R.5
-
6
-
-
77949893047
-
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population
-
Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, et al. (2009) High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2: 450-456.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 450-456
-
-
Lin, H.Y.1
Chong, K.W.2
Hsu, J.H.3
Yu, H.C.4
Shih, C.C.5
-
7
-
-
0027491109
-
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease
-
Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ, (1993) Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 53: 1186-1197.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1186-1197
-
-
Eng, C.M.1
Resnick-Silverman, L.A.2
Niehaus, D.J.3
Astrin, K.H.4
Desnick, R.J.5
-
8
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, et al. (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Eng J Med 333: 288-293.
-
(1995)
N Eng J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
Kodama, C.4
Tanaka, A.5
-
9
-
-
0345732648
-
Fabry Disease: Characterization of α-Galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
-
Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, et al. (2003) Fabry Disease: Characterization of α-Galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. Human Mutation 22: 486-492.
-
(2003)
Human Mutation
, vol.22
, pp. 486-492
-
-
Yasuda, M.1
Shabbeer, J.2
Benson, S.D.3
Maire, I.4
Burnett, R.M.5
-
10
-
-
0142185106
-
Fabry disease: D313Y is an alpha-Galactosidase A sequence variant that causes pseudodeficient activity in plasma
-
Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I, (2003) Fabry disease: D313Y is an alpha-Galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 80: 307-314.
-
(2003)
Mol Genet Metab
, vol.80
, pp. 307-314
-
-
Froissart, R.1
Guffon, N.2
Vanier, M.T.3
Desnick, R.J.4
Maire, I.5
-
11
-
-
0015583864
-
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes
-
Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, et al. (1973) Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Lab Clin Med 81: 157-171.
-
(1973)
Lab Clin Med
, vol.81
, pp. 157-171
-
-
Desnick, R.J.1
Allen, K.Y.2
Desnick, S.J.3
Raman, M.K.4
Bernlohr, R.W.5
-
12
-
-
41749098381
-
White matter hyperintensities in mid-adult life
-
Sachdev P, Chen X, Wen W, (2008) White matter hyperintensities in mid-adult life. Curr Opin Psychiatry 21: 268-274.
-
(2008)
Curr Opin Psychiatry
, vol.21
, pp. 268-274
-
-
Sachdev, P.1
Chen, X.2
Wen, W.3
-
13
-
-
0033950216
-
Cerebral white matter lesions and cognitive function: the Rotterdam Scan Study
-
De Groot JC, de Leeuw FE, Oudkerk M, van Gijn J, Hofman A, et al. (2000a) Cerebral white matter lesions and cognitive function: the Rotterdam Scan Study. Ann Neurol 47: 145-151.
-
(2000)
Ann Neurol
, vol.47
, pp. 145-151
-
-
De Groot, J.C.1
de Leeuw, F.E.2
Oudkerk, M.3
van Gijn, J.4
Hofman, A.5
-
14
-
-
34249853210
-
Progression of cerebral white matter lesions- Clinical and radiological considerations
-
Enzinger C, Fazekas F, Ropele S, Schmidt R, (2007) Progression of cerebral white matter lesions- Clinical and radiological considerations. J Neurol Sci 257: 5-10.
-
(2007)
J Neurol Sci
, vol.257
, pp. 5-10
-
-
Enzinger, C.1
Fazekas, F.2
Ropele, S.3
Schmidt, R.4
-
15
-
-
84876110959
-
Prevalence and subtypes of radiological cerebrovascular disease in late-onset isolated seizures and epilepsy
-
Clinical Neurology and Neurosurgery webside, Accessed 2012 Jul 30
-
Maxwell H, Hanby M, Parkes LM, Gibson LM, Cottinho C, et al. (2012) Prevalence and subtypes of radiological cerebrovascular disease in late-onset isolated seizures and epilepsy. Clin Neurol Neurosurg in press. Clinical Neurology and Neurosurgery webside. Available: http://www.clineu-journal.com/article/S0303-8467(12)00367-8. Accessed 2012 Jul 30.
-
(2012)
Clin Neurol Neurosurg in press
-
-
Maxwell, H.1
Hanby, M.2
Parkes, L.M.3
Gibson, L.M.4
Cottinho, C.5
-
16
-
-
0033754139
-
Cerebral white matter lesions and depressive symptoms in elderly adults
-
De Groot JC, de Leeuw FE, Oudkerk M, Hofman A, Jolles J, et al. (2000b) Cerebral white matter lesions and depressive symptoms in elderly adults. Arch Gen Psychatry 57: 1071-1076.
-
(2000)
Arch Gen Psychatry
, vol.57
, pp. 1071-1076
-
-
De Groot, J.C.1
de Leeuw, F.E.2
Oudkerk, M.3
Hofman, A.4
Jolles, J.5
-
17
-
-
80053212602
-
The genetics of white matter lesions
-
Assareh A, Mather KA, Schofield PR, Kwok JB, Sachdev PS, (2011) The genetics of white matter lesions. CNS Neurosci Ther 17: 525-540.
-
(2011)
CNS Neurosci Ther
, vol.17
, pp. 525-540
-
-
Assareh, A.1
Mather, K.A.2
Schofield, P.R.3
Kwok, J.B.4
Sachdev, P.S.5
-
18
-
-
62349126641
-
Invited article: an MRI-based approach to the diagnosis of white matter disorders
-
Schiffmann R, van der Knaap MS, (2009) Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 72: 750-759.
-
(2009)
Neurology
, vol.72
, pp. 750-759
-
-
Schiffmann, R.1
van der Knaap, M.S.2
-
19
-
-
62449143800
-
Stroke in Fabry disease frequently occurs before diagnosis and in absence of other clinical events: Natural history data from the Fabry Registry
-
Sims K, Politei J, Banikazemi M, Lee P, (2009) Stroke in Fabry disease frequently occurs before diagnosis and in absence of other clinical events: Natural history data from the Fabry Registry. Stroke 40: 788-794.
-
(2009)
Stroke
, vol.40
, pp. 788-794
-
-
Sims, K.1
Politei, J.2
Banikazemi, M.3
Lee, P.4
-
20
-
-
78650726682
-
Contribution of genotyping in Fabry's disease
-
Froissart R, Piraud M, Maire I, (2010) Contribution of genotyping in Fabry's disease. Rev Med Interne 31: 275-278.
-
(2010)
Rev Med Interne
, vol.31
, pp. 275-278
-
-
Froissart, R.1
Piraud, M.2
Maire, I.3
-
21
-
-
77955957587
-
Treat the patient not the lab value
-
Tolouian R, Salameh H, (2010) Treat the patient not the lab value. NDTPlus 3: 81-83.
-
(2010)
NDTPlus
, vol.3
, pp. 81-83
-
-
Tolouian, R.1
Salameh, H.2
-
22
-
-
37449005523
-
Prevalence of Fabry Disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy
-
Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, Garcia-Honrubia A, et al. (2007) Prevalence of Fabry Disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. JACC 50: 2399-2403.
-
(2007)
JACC
, vol.50
, pp. 2399-2403
-
-
Monserrat, L.1
Gimeno-Blanes, J.R.2
Marin, F.3
Hermida-Prieto, M.4
Garcia-Honrubia, A.5
-
23
-
-
77949891815
-
Frequency of Fabry disease in male and female haemodialysis patients in Spain
-
Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, et al. (2010) Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Medical Genetics 11: 19.
-
(2010)
BMC Medical Genetics
, vol.11
, pp. 19
-
-
Gaspar, P.1
Herrera, J.2
Rodrigues, D.3
Cerezo, S.4
Delgado, R.5
-
24
-
-
74049117508
-
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke
-
Wozniak MA, Kittner SJ, Tuhrim S, Cole JW, Stern B, et al. (2010) Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 41: 78-81.
-
(2010)
Stroke
, vol.41
, pp. 78-81
-
-
Wozniak, M.A.1
Kittner, S.J.2
Tuhrim, S.3
Cole, J.W.4
Stern, B.5
-
25
-
-
77649086331
-
Mutations of the GLA gene in young patients with stroke: The PORTYSTROKE study-Screening genetic conditions in Portuguese young stroke patients
-
Baptista MV, Ferreira S, Pinho-e-Melo T, Carvalho M, Cruz VT, et al. (2010) Mutations of the GLA gene in young patients with stroke: The PORTYSTROKE study-Screening genetic conditions in Portuguese young stroke patients. Stroke 41: 431-436.
-
(2010)
Stroke
, vol.41
, pp. 431-436
-
-
Baptista, M.V.1
Ferreira, S.2
Pinho-e-Melo, T.3
Carvalho, M.4
Cruz, V.T.5
-
26
-
-
33745280137
-
High incidence of later-onset fabry disease revealed by newborn screening
-
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, et al. (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79: 31-40.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
-
27
-
-
23944489917
-
Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
-
Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H, (2005) Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Am J Hum Genet 117: 317-328.
-
(2005)
Am J Hum Genet
, vol.117
, pp. 317-328
-
-
Matsuzawa, F.1
Aikawa, S.2
Doi, H.3
Okumiya, T.4
Sakuraba, H.5
-
28
-
-
50249129586
-
Structurak characterization of mutant alpha-galactosidases causing Fabry disease
-
Sugarawa K, Ohno K, Saito S, Sakuraba H, (2008) Structurak characterization of mutant alpha-galactosidases causing Fabry disease. Am J Hum Genet 53: 812-824.
-
(2008)
Am J Hum Genet
, vol.53
, pp. 812-824
-
-
Sugarawa, K.1
Ohno, K.2
Saito, S.3
Sakuraba, H.4
-
29
-
-
0242664976
-
Two distinct Gb3/CD77 signaling pathways leading to apoptosis are triggered by anti-Gb3/CD77 mAb and Verotoxin-1
-
Tetaud C, Falguieres T, Carlier K, Lecluse Y, Garibal J, et al. (2003) Two distinct Gb3/CD77 signaling pathways leading to apoptosis are triggered by anti-Gb3/CD77 mAb and Verotoxin-1. JBC 278: 45200-45208.
-
(2003)
JBC
, vol.278
, pp. 45200-45208
-
-
Tetaud, C.1
Falguieres, T.2
Carlier, K.3
Lecluse, Y.4
Garibal, J.5
-
30
-
-
84924167730
-
Effects of enzyme replacement therapy on pain and overall quality of life
-
Mehta A, Beck M, Sunder-PlassmannG, editors, Oxford: Oxford PharmaGenesis; Chapter 40
-
Hoffmann B (2006) Effects of enzyme replacement therapy on pain and overall quality of life. In: Mehta A, Beck M, Sunder-PlassmannG, editors. Fabry Disease: Perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis; Chapter 40. Available: http://www.ncbi.nlm.nih.gov/books/NBK11580/.
-
(2006)
Fabry Disease: Perspectives from 5 years of FOS
-
-
Hoffmann, B.1
-
31
-
-
34250723911
-
Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy- aretrospective analysis from the Fabry Outcome Survey
-
Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, et al. (2007) Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy- aretrospective analysis from the Fabry Outcome Survey. Clin J Pain 23: 535-542.
-
(2007)
Clin J Pain
, vol.23
, pp. 535-542
-
-
Hoffmann, B.1
Beck, M.2
Sunder-Plassmann, G.3
Borsini, W.4
Ricci, R.5
-
32
-
-
71649111830
-
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
-
Mehta A, Beck M, Elliot P, Giugliani R, Linhart A, et al. (2009) Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 374: 1986-1996.
-
(2009)
Lancet
, vol.374
, pp. 1986-1996
-
-
Mehta, A.1
Beck, M.2
Elliot, P.3
Giugliani, R.4
Linhart, A.5
|