-
1
-
-
0027479304
-
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps on chromosome 19q12
-
Tournier-Lasserve E., Joutel A., Melki J., Weissenbach J., Lathrop G.M., Chabriat H., et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps on chromosome 19q12. Nat Genet 3 (1993) 256-259
-
(1993)
Nat Genet
, vol.3
, pp. 256-259
-
-
Tournier-Lasserve, E.1
Joutel, A.2
Melki, J.3
Weissenbach, J.4
Lathrop, G.M.5
Chabriat, H.6
-
2
-
-
0029089247
-
Clinical spectrum of CADASIL: a study of 7 families
-
Chabriat H., Vahedi K., Bousser M.G., Iba-Zizen M.T., Joutel A., Nibbo A., et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet 346 (1995) 934-939
-
(1995)
Lancet
, vol.346
, pp. 934-939
-
-
Chabriat, H.1
Vahedi, K.2
Bousser, M.G.3
Iba-Zizen, M.T.4
Joutel, A.5
Nibbo, A.6
-
3
-
-
0029050447
-
Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Ruchoux M.M., Guerouaou D., Vandenhaute B., Pruvo J.P., Vermersch P., and Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 89 (1995) 500-512
-
(1995)
Acta Neuropathol
, vol.89
, pp. 500-512
-
-
Ruchoux, M.M.1
Guerouaou, D.2
Vandenhaute, B.3
Pruvo, J.P.4
Vermersch, P.5
Leys, D.6
-
4
-
-
0035852975
-
MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL
-
O'sullivan M., Jaroz J.M., Martin R.J., Deasy N., Powell J.F., and Markus H.S. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 56 (2001) 628-634
-
(2001)
Neurology
, vol.56
, pp. 628-634
-
-
O'sullivan, M.1
Jaroz, J.M.2
Martin, R.J.3
Deasy, N.4
Powell, J.F.5
Markus, H.S.6
-
5
-
-
16044362074
-
NOTCH3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
-
Joutel A., Corpechot C., Ducros A., Vahedi K., Chabriat H., Mouton P., et al. NOTCH3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383 (1996) 707-710
-
(1996)
Nature
, vol.383
, pp. 707-710
-
-
Joutel, A.1
Corpechot, C.2
Ducros, A.3
Vahedi, K.4
Chabriat, H.5
Mouton, P.6
-
7
-
-
0031590602
-
Strong clustering and stereotyped nature of NOTCH3 mutations in CADASIL patients
-
Joutel A., Vahedi K., Corpechot C., Troesch A., Chabriat H., Vayssiere C., et al. Strong clustering and stereotyped nature of NOTCH3 mutations in CADASIL patients. Lancet 350 (1997) 1511-1515
-
(1997)
Lancet
, vol.350
, pp. 1511-1515
-
-
Joutel, A.1
Vahedi, K.2
Corpechot, C.3
Troesch, A.4
Chabriat, H.5
Vayssiere, C.6
-
8
-
-
16644401435
-
NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Wang Z.X., Lu H., Zhang Y., Bu D.F., Niu X.Y., Zhang Z., et al. NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Chung-Hua i Hsueh Tsa Chih 84 (2004) 1175-1180
-
(2004)
Chung-Hua i Hsueh Tsa Chih
, vol.84
, pp. 1175-1180
-
-
Wang, Z.X.1
Lu, H.2
Zhang, Y.3
Bu, D.F.4
Niu, X.Y.5
Zhang, Z.6
-
9
-
-
13444304264
-
Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Tang S.C., Lee M.J., Jeng J.S., and Yip P.K. Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neurol Sci 228 (2005) 125-128
-
(2005)
J Neurol Sci
, vol.228
, pp. 125-128
-
-
Tang, S.C.1
Lee, M.J.2
Jeng, J.S.3
Yip, P.K.4
-
10
-
-
17744369485
-
Mutations of the NOTCH3 gene in non-Caucasian patients with suspected CADASIL syndrome
-
Kotorii S., Takahashi K., Kamimura K., Nishio T., Arima K., Yamada H., et al. Mutations of the NOTCH3 gene in non-Caucasian patients with suspected CADASIL syndrome. Dement Geriatr Cogn Disord 2 (2001) 185-193
-
(2001)
Dement Geriatr Cogn Disord
, vol.2
, pp. 185-193
-
-
Kotorii, S.1
Takahashi, K.2
Kamimura, K.3
Nishio, T.4
Arima, K.5
Yamada, H.6
-
11
-
-
15944391673
-
Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Soong B.W., Lee Y.C., and Lu Y.C. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Hum Genet 116 (2005) 242
-
(2005)
Hum Genet
, vol.116
, pp. 242
-
-
Soong, B.W.1
Lee, Y.C.2
Lu, Y.C.3
-
12
-
-
17644438177
-
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
-
Joutel A., Andreux F., Gaulis S., Domenga V., Cecillon M., Battail N., et al. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest 105 (2000) 597-605
-
(2000)
J Clin Invest
, vol.105
, pp. 597-605
-
-
Joutel, A.1
Andreux, F.2
Gaulis, S.3
Domenga, V.4
Cecillon, M.5
Battail, N.6
-
13
-
-
0034034483
-
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains
-
Dichgans M., Ludwig H., Müller-Höcher J., Messerschmidt A., and Gasser T. Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains. Eur J Hum Genet 8 (2000) 280-285
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 280-285
-
-
Dichgans, M.1
Ludwig, H.2
Müller-Höcher, J.3
Messerschmidt, A.4
Gasser, T.5
-
14
-
-
0037159187
-
Diagnostic strategies in CADASIL
-
Markus H.S., Martin R.J., Simpson M.A., Dong Y.B., Ali N., Crosby A.H., et al. Diagnostic strategies in CADASIL. Neurology 59 (2002) 1134-1138
-
(2002)
Neurology
, vol.59
, pp. 1134-1138
-
-
Markus, H.S.1
Martin, R.J.2
Simpson, M.A.3
Dong, Y.B.4
Ali, N.5
Crosby, A.H.6
-
15
-
-
0032976228
-
Diagnostic NOTCH3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group
-
Oberstein S.A., Ferrari M.D., Bakker E., van Gestel J., Kneppers A.L., Frants R.R., et al. Diagnostic NOTCH3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. Neurology 52 (1999) 1913-1915
-
(1999)
Neurology
, vol.52
, pp. 1913-1915
-
-
Oberstein, S.A.1
Ferrari, M.D.2
Bakker, E.3
van Gestel, J.4
Kneppers, A.L.5
Frants, R.R.6
-
16
-
-
0034843086
-
A novel mutation in NOTCH3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings
-
Oliveri R.L., Muglia M., De Stefano N., Mazzei R., Labate A., Conforti F.L., et al. A novel mutation in NOTCH3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings. Arch Neurol 58 (2001) 1418-1422
-
(2001)
Arch Neurol
, vol.58
, pp. 1418-1422
-
-
Oliveri, R.L.1
Muglia, M.2
De Stefano, N.3
Mazzei, R.4
Labate, A.5
Conforti, F.L.6
-
17
-
-
0036447730
-
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan
-
Uchino M., Hirano T., Uyama E., and Hashimoto Y. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan. Ann N Y Acad Sci 977 (2002) 273-278
-
(2002)
Ann N Y Acad Sci
, vol.977
, pp. 273-278
-
-
Uchino, M.1
Hirano, T.2
Uyama, E.3
Hashimoto, Y.4
-
18
-
-
0038278343
-
Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of NOTCH3 mutations and implications of smooth muscle cell degeneration for the pathogenesis
-
Santa Y., Uyama E., de Chui H., Arima M., Kotorii S., Takahashi K., et al. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of NOTCH3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. J Neurol Sci 15 (2003) 79-84
-
(2003)
J Neurol Sci
, vol.15
, pp. 79-84
-
-
Santa, Y.1
Uyama, E.2
de Chui, H.3
Arima, M.4
Kotorii, S.5
Takahashi, K.6
-
19
-
-
0141993338
-
A novel mutation (C67Y) in the Notch3 gene in a Korean CADASIL patient
-
Moon S.Y., Kim H.Y., Seok J.I., Kwon J.C., Ki C.S., Kim J.W., et al. A novel mutation (C67Y) in the Notch3 gene in a Korean CADASIL patient. J Korean Med Sci 18 (2003) 141-144
-
(2003)
J Korean Med Sci
, vol.18
, pp. 141-144
-
-
Moon, S.Y.1
Kim, H.Y.2
Seok, J.I.3
Kwon, J.C.4
Ki, C.S.5
Kim, J.W.6
-
20
-
-
0037317752
-
Mutation of the NOTCH3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family
-
Suwanwela N., Srikiatkhachorn A., Tangwongchai S., Phanthumchina K., and Suwanwela N. Mutation of the NOTCH3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family. J Med Assoc Thai 86 (2003) 178-182
-
(2003)
J Med Assoc Thai
, vol.86
, pp. 178-182
-
-
Suwanwela, N.1
Srikiatkhachorn, A.2
Tangwongchai, S.3
Phanthumchina, K.4
Suwanwela, N.5
-
21
-
-
0036393522
-
CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor
-
Utku A., Celik Y., Uyguner O., Yuksel-Apak M., and Wollnik B. CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor. Eur J Neurol 9 (2002) 23-28
-
(2002)
Eur J Neurol
, vol.9
, pp. 23-28
-
-
Utku, A.1
Celik, Y.2
Uyguner, O.3
Yuksel-Apak, M.4
Wollnik, B.5
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