-
1
-
-
0027479304
-
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to 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 to 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
-
-
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
-
3
-
-
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
-
4
-
-
0033429146
-
Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Kamimura K., Takahashi K., Uyama E., Tokunaga M., Kotorii S., Uchino M.et al. Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Alzheimer Dis. Assoc. Disord. 13:1999;222-225.
-
(1999)
Alzheimer Dis. Assoc. Disord.
, vol.13
, pp. 222-225
-
-
Kamimura, K.1
Takahashi, K.2
Uyama, E.3
Tokunaga, M.4
Kotorii, S.5
Uchino, M.6
-
5
-
-
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. 12:2001;185-193.
-
(2001)
Dement. Geriatr. Cogn. Disord.
, vol.12
, pp. 185-193
-
-
Kotorii, S.1
Takahashi, K.2
Kamimura, K.3
Nishio, T.4
Arima, K.5
Yamada, H.6
-
6
-
-
23544478068
-
Notch3 gene in CADASIL syndrome: Mutation frequencies in Japanese and its expression and processing
-
C. Tanaka, P.L. McGeer, & Y. Ihara. Basel: Birkhauser Verlag
-
Takahashi K., Kotorii S., Chui D.H., Shirotani K., Tabira T. Notch3 gene in CADASIL syndrome: mutation frequencies in Japanese and its expression and processing. Tanaka C., McGeer P.L., Ihara Y. Neuroscientific basis of dementia. 2001;209-216 Birkhauser Verlag, Basel.
-
(2001)
Neuroscientific basis of dementia
, pp. 209-216
-
-
Takahashi, K.1
Kotorii, S.2
Chui, D.H.3
Shirotani, K.4
Tabira, T.5
-
7
-
-
0032127320
-
Both N-terminal and C-terminal fragments of presenilin 1 colocalize with neurofibrillary tangles in neurons and dystrophic neurites of senile plaques in Alzheimer's disease
-
Chui D.H., Shirotani K., Tanahashi H., Akiyama H., Ozawa K., Kunishita T.et al. Both N-terminal and C-terminal fragments of presenilin 1 colocalize with neurofibrillary tangles in neurons and dystrophic neurites of senile plaques in Alzheimer's disease. J. Neurosci. Res. 53:1998;99-106.
-
(1998)
J. Neurosci. Res.
, vol.53
, pp. 99-106
-
-
Chui, D.H.1
Shirotani, K.2
Tanahashi, H.3
Akiyama, H.4
Ozawa, K.5
Kunishita, T.6
-
8
-
-
0031410819
-
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - Report of an autopsied Japanese case
-
Nishio T., Arima K., Eto K., Ogawa M., Sunohara N. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - report of an autopsied Japanese case. Clin. Neurol. (Tokyo). 37:1997;910-916.
-
(1997)
Clin. Neurol. (Tokyo)
, vol.37
, pp. 910-916
-
-
Nishio, T.1
Arima, K.2
Eto, K.3
Ogawa, M.4
Sunohara, N.5
-
9
-
-
0035660164
-
A case of CADASIL in early stage
-
Kotorii S., Sakae N., Yamada N., Yamanaka H., Fujii N., Nakashima Y. A case of CADASIL in early stage. Clin. Neurol. (Tokyo). 41:2001;306-309.
-
(2001)
Clin. Neurol. (Tokyo)
, vol.41
, pp. 306-309
-
-
Kotorii, S.1
Sakae, N.2
Yamada, N.3
Yamanaka, H.4
Fujii, N.5
Nakashima, Y.6
-
10
-
-
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
-
11
-
-
0034624930
-
Migraine with aura and white matter abnormalities: Notch3 mutation
-
Ceroni M., Poloni T.E., Tonietti S., Fabozzi D., Uggetti C., Frediani F.et al. Migraine with aura and white matter abnormalities: Notch3 mutation. Neurology. 54:2000;1869-1871.
-
(2000)
Neurology
, vol.54
, pp. 1869-1871
-
-
Ceroni, M.1
Poloni, T.E.2
Tonietti, S.3
Fabozzi, D.4
Uggetti, C.5
Frediani, F.6
-
12
-
-
0034034483
-
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains
-
Dichgans M., Ludwig H., Muller-Hocker J., Messerschmidt A., 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
Muller-Hocker, J.3
Messerschmidt, A.4
Gasser, T.5
-
13
-
-
0034321629
-
Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree
-
Grigg R., Lea R., Sullivan A.A., Curtain R., MacMillian J., Griffiths L. Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. Hum. Mutat. 16:2000;449-450.
-
(2000)
Hum. Mutat.
, vol.16
, pp. 449-450
-
-
Grigg, R.1
Lea, R.2
Sullivan, A.A.3
Curtain, R.4
MacMillian, J.5
Griffiths, L.6
-
14
-
-
0034843086
-
A novel mutation in the 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 the 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
-
15
-
-
0034010024
-
De novo mutation in the Notch3 gene causing CADASIL
-
Joutel A., Dodick D.D., Parisi J.E., Cecillon M., Tournier-Lasserve E., Bousser M.G. De novo mutation in the Notch3 gene causing CADASIL. Ann. Neurol. 47:2000;388-391.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 388-391
-
-
Joutel, A.1
Dodick, D.D.2
Parisi, J.E.3
Cecillon, M.4
Tournier-Lasserve, E.5
Bousser, M.G.6
-
16
-
-
0034894102
-
Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation
-
Tuominen S., Juvonen V., Amberla K., Jolma T., Rinne J.O., Tuisku S.et al. Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation. Stroke. 32:2001;1767-1774.
-
(2001)
Stroke
, vol.32
, pp. 1767-1774
-
-
Tuominen, S.1
Juvonen, V.2
Amberla, K.3
Jolma, T.4
Rinne, J.O.5
Tuisku, S.6
-
17
-
-
0034624904
-
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL
-
Joutel A., Chabriat H., Vahedi K., Domenga V., Vayssiere C., Ruchoux M.M.et al. Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. Neurology. 54:2000;1874-1875.
-
(2000)
Neurology
, vol.54
, pp. 1874-1875
-
-
Joutel, A.1
Chabriat, H.2
Vahedi, K.3
Domenga, V.4
Vayssiere, C.5
Ruchoux, M.M.6
-
18
-
-
0035856449
-
NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
-
Dichgans M., Herzog J., Gasser T. NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Neurology. 57:2000;1714-1717.
-
(2000)
Neurology
, vol.57
, pp. 1714-1717
-
-
Dichgans, M.1
Herzog, J.2
Gasser, T.3
-
19
-
-
19244375510
-
Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: Clinical, neuroimaging and genetic studies
-
Utatsu Y., Takashima H., Michizono K., Kanda N., Endou K., Mitsuyama Y.et al. Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: clinical, neuroimaging and genetic studies. J. Neurol. Sci. 147:1997;55-62.
-
(1997)
J. Neurol. Sci.
, vol.147
, pp. 55-62
-
-
Utatsu, Y.1
Takashima, H.2
Michizono, K.3
Kanda, N.4
Endou, K.5
Mitsuyama, Y.6
-
20
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li L., Krantz I.D., Deng Y., Genin A., Banta A.B., Collins C.C.et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 16:1997;243-251.
-
(1997)
Nat. Genet.
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banta, A.B.5
Collins, C.C.6
-
21
-
-
0028905614
-
Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension
-
Fukutake T., Hirayama K. Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension. Eur. Neurol. 35:1995;69-79.
-
(1995)
Eur. Neurol.
, vol.35
, pp. 69-79
-
-
Fukutake, T.1
Hirayama, K.2
-
22
-
-
0037066143
-
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
-
Yanagawa S., Ito N., Arima K., Ikeda S. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. J. Neurol. Sci. 58:2002;817-820.
-
(2002)
J. Neurol. Sci.
, vol.58
, pp. 817-820
-
-
Yanagawa, S.1
Ito, N.2
Arima, K.3
Ikeda, S.4
-
23
-
-
0034930440
-
Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene-association with alopecia and lumbar herniated disk
-
Yamada H., Yasuda T., Kotorii S., Takahashi K., Tabira T., Sunada Y. Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene-association with alopecia and lumbar herniated disk. Clin. Neurol. (Tokyo). 41:2001;144-146.
-
(2001)
Clin. Neurol. (Tokyo)
, vol.41
, pp. 144-146
-
-
Yamada, H.1
Yasuda, T.2
Kotorii, S.3
Takahashi, K.4
Tabira, T.5
Sunada, Y.6
-
24
-
-
0023147465
-
Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature
-
Yamamura T., Nishimura M., Shirabe T., Fujita M. Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature. J. Neurol. Sci. 78:1987;175-187.
-
(1987)
J. Neurol. Sci.
, vol.78
, pp. 175-187
-
-
Yamamura, T.1
Nishimura, M.2
Shirabe, T.3
Fujita, M.4
-
25
-
-
0031833058
-
CADASIL: A review with proposed diagnostic criteria
-
Davous P. CADASIL: a review with proposed diagnostic criteria. Eur. J. Neurol. 5:1998;219-233.
-
(1998)
Eur. J. Neurol.
, vol.5
, pp. 219-233
-
-
Davous, P.1
-
26
-
-
0031695156
-
Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: Use of skin biopsy electron microscopy study and direct genotypic screening
-
Furby A., Vahedi K., Force M., Larrouy S., Ruchoux M.M., Joutel A.et al. Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening. J. Neurol. 245:1998;734-740.
-
(1998)
J. Neurol.
, vol.245
, pp. 734-740
-
-
Furby, A.1
Vahedi, K.2
Force, M.3
Larrouy, S.4
Ruchoux, M.M.5
Joutel, A.6
-
27
-
-
0035077197
-
Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil)
-
Robinson W., Galetta S.L., McCluskey L., Forman M.S., Balcer L.J. Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). Surv. Ophthalmol. 45:2001;445-448.
-
(2001)
Surv. Ophthalmol.
, vol.45
, pp. 445-448
-
-
Robinson, W.1
Galetta, S.L.2
McCluskey, L.3
Forman, M.S.4
Balcer, L.J.5
-
28
-
-
0034264344
-
Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL
-
Uyama E., Tokunaga M., Suenaga A., Kotorii S., Kamimura K., Takahashi K.et al. Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. Intern. Med. 39:2000;732-737.
-
(2000)
Intern. Med.
, vol.39
, pp. 732-737
-
-
Uyama, E.1
Tokunaga, M.2
Suenaga, A.3
Kotorii, S.4
Kamimura, K.5
Takahashi, K.6
-
29
-
-
0034817456
-
Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels
-
Villa N., Walker L., Lindsell C.E., Gasson J., Iruela-Arispe M.L., Weinmaster G. Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels. Mech. Dev. 108:2001;161-164.
-
(2001)
Mech. Dev.
, vol.108
, pp. 161-164
-
-
Villa, N.1
Walker, L.2
Lindsell, C.E.3
Gasson, J.4
Iruela-Arispe, M.L.5
Weinmaster, G.6
-
30
-
-
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
-
31
-
-
0036844046
-
Arterial changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in relation to pathogenesis of diffuse myelin loss of cerebral white matter: Examination of cerebral medullary arteries by reconstruction of serial sections of an autopsy case
-
Okeda R., Arima K., Kawai M. Arterial changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in relation to pathogenesis of diffuse myelin loss of cerebral white matter: examination of cerebral medullary arteries by reconstruction of serial sections of an autopsy case. Stroke. 33:2002;2565-2569.
-
(2002)
Stroke
, vol.33
, pp. 2565-2569
-
-
Okeda, R.1
Arima, K.2
Kawai, M.3
-
32
-
-
0033866363
-
Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking
-
Chabriat H., Pappata S., Ostergaard L., Clark C.A., Pachot-Clouard M., Vahedi K.et al. Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. Stroke. 31:2000;1904-1912.
-
(2000)
Stroke
, vol.31
, pp. 1904-1912
-
-
Chabriat, H.1
Pappata, S.2
Ostergaard, L.3
Clark, C.A.4
Pachot-Clouard, M.5
Vahedi, K.6
-
33
-
-
0035892578
-
Nocturnal blood pressure dip in CADASIL
-
Manabe Y., Murakami T., Iwatsuki K., Narai H., Warita H., Hayashi T.et al. Nocturnal blood pressure dip in CADASIL. J. Neurol. Sci. 193:2001;13-16.
-
(2001)
J. Neurol. Sci.
, vol.193
, pp. 13-16
-
-
Manabe, Y.1
Murakami, T.2
Iwatsuki, K.3
Narai, H.4
Warita, H.5
Hayashi, T.6
|