-
1
-
-
16044362074
-
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
-
Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707-710.
-
(1996)
Nature
, vol.383
, pp. 707-710
-
-
Joutel, A.1
Corpechot, C.2
Ducros, A.3
-
2
-
-
0029089247
-
Clinical spectrum of CADASIL: A study of 7 families
-
Chabriat H, Vahedi K, Iba-Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet 1995;346:934-939.
-
(1995)
Lancet
, vol.346
, pp. 934-939
-
-
Chabriat, H.1
Vahedi, K.2
Iba-Zizen, M.T.3
-
3
-
-
0033036190
-
The natural history of CADASIL: A pooled analysis of previously published cases
-
Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke 1999;30:1230-1233.
-
(1999)
Stroke
, vol.30
, pp. 1230-1233
-
-
Desmond, D.W.1
Moroney, J.T.2
Lynch, T.3
Chan, S.4
Chin, S.S.5
Mohr, J.P.6
-
4
-
-
0031590602
-
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
-
Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 1997;350:1511-1515.
-
(1997)
Lancet
, vol.350
, pp. 1511-1515
-
-
Joutel, A.1
Vahedi, K.2
Corpechot, C.3
-
5
-
-
0032781403
-
CADASIL: Hereditary disease of arteries causing brain infarcts and dementia
-
Kalimo H, Viitanen M, Amberla K, et al. CADASIL: hereditary disease of arteries causing brain infarcts and dementia. Neuropathol Appl Neurobiol 1999;25:257-265.
-
(1999)
Neuropathol Appl Neurobiol
, vol.25
, pp. 257-265
-
-
Kalimo, H.1
Viitanen, M.2
Amberla, K.3
-
6
-
-
0029050447
-
Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Ruchoux MM, Guerouaou D, Vandenhaute B, Pruvo JP, Vermersch P, Leys D. Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol (Berl) 1995;89:500-512.
-
(1995)
Acta Neuropathol (Berl)
, 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
-
7
-
-
0030854861
-
CADASIL: Skin biopsy allows diagnosis in early stages
-
Ebke M, Dichgans M, Bergmann M, et al. CADASIL: skin biopsy allows diagnosis in early stages. Acta Neurol Scand 1997;95:351-357.
-
(1997)
Acta Neurol Scand
, vol.95
, pp. 351-357
-
-
Ebke, M.1
Dichgans, M.2
Bergmann, M.3
-
8
-
-
0032781960
-
Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL
-
Mayer M, Straube A, Bruening R, et al. Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL. J Neurol 1999;246:526-532.
-
(1999)
J Neurol
, vol.246
, pp. 526-532
-
-
Mayer, M.1
Straube, A.2
Bruening, R.3
-
9
-
-
0030875945
-
Phenotypic variability of CADASIL and novel morphologic findings
-
Rubio A, Rifkin D, Powers JM, et al. Phenotypic variability of CADASIL and novel morphologic findings. Acta Neuropathol (Berl) 1997;94:247-254.
-
(1997)
Acta Neuropathol (Berl)
, vol.94
, pp. 247-254
-
-
Rubio, A.1
Rifkin, D.2
Powers, J.M.3
-
10
-
-
0035852975
-
MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL
-
O'Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology 2001;56:628-634.
-
(2001)
Neurology
, vol.56
, pp. 628-634
-
-
O'Sullivan, M.1
Jarosz, J.M.2
Martin, R.J.3
Deasy, N.4
Powell, J.F.5
Markus, H.S.6
-
11
-
-
0035140388
-
Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison
-
Auer D, Putz B, Gossl C, Elbel G, Gasser T, Dichgans M. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology 2001;218:443-451.
-
(2001)
Radiology
, vol.218
, pp. 443-451
-
-
Auer, D.1
Putz, B.2
Gossl, C.3
Elbel, G.4
Gasser, T.5
Dichgans, M.6
-
12
-
-
0027339590
-
A semiquantative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging
-
Scheltens P, Barkhof F, Leys D, et al. A semiquantative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging. J Neurol Sci 1993;114:7-12.
-
(1993)
J Neurol Sci
, vol.114
, pp. 7-12
-
-
Scheltens, P.1
Barkhof, F.2
Leys, D.3
-
13
-
-
0032976228
-
Diagnostic notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients
-
Dutch CADASIL Research Group
-
Oberstein SA, Ferrari MD, Bakker E, et al. Diagnostic notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. Neurology 1999;52:1913-1915.
-
(1999)
Neurology
, vol.52
, pp. 1913-1915
-
-
Oberstein, S.A.1
Ferrari, M.D.2
Bakker, E.3
-
14
-
-
0034034483
-
Small in-frame deletions and missense mutations in CADASIL; 32 models predict misfolding of notch 3 EGF-like repeat domains
-
Dichgans M, Ludwig H, Muller-Hocker J, Messerschmidt A, Gasser T. Small in-frame deletions and missense mutations in CADASIL; 32 models predict misfolding of notch 3 EGF-like repeat domains. Eur J Hum Genet 2000;8:280-285.
-
(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
-
15
-
-
0034624904
-
Splice site mutation causing a seven amino acid notch3 in-frame deletion in CADASIL
-
Joutel A, Chabriat H, Vahedi K, et al. Splice site mutation causing a seven amino acid notch3 in-frame deletion in CADASIL. Neurology 2000;54:1874-1875.
-
(2000)
Neurology
, vol.54
, pp. 1874-1875
-
-
Joutel, A.1
Chabriat, H.2
Vahedi, K.3
-
16
-
-
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 2001;57:1714-1717.
-
(2001)
Neurology
, vol.57
, pp. 1714-1717
-
-
Dichgans, M.1
Herzog, J.2
Gasser, T.3
-
17
-
-
0032819560
-
Vasculopathic changes of CADASIL can be focal in skin biopsies
-
Schultz A, Santoianni R, Hewan-Lowe K. Vasculopathic changes of CADASIL can be focal in skin biopsies. Ultrastruct Pathol 1999;23:241-247.
-
(1999)
Ultrastruct Pathol
, vol.23
, pp. 241-247
-
-
Schultz, A.1
Santoianni, R.2
Hewan-Lowe, K.3
-
18
-
-
0035894640
-
Skin biopsy immuno-staining with a notch3 monoclonal antibody for CADASIL diagnosis
-
Joutel A, Favrole P, Labauge P, et al. Skin biopsy immuno-staining with a notch3 monoclonal antibody for CADASIL diagnosis. Lancet 2001;358:2049-2051.
-
(2001)
Lancet
, vol.358
, pp. 2049-2051
-
-
Joutel, A.1
Favrole, P.2
Labauge, P.3
-
19
-
-
0031784085
-
Patterns of MRI lesions in CADASIL
-
Chabriat H, Levy C, Taillia H, et al. Patterns of MRI lesions in CADASIL. Neurology 1998;51:452-457.
-
(1998)
Neurology
, vol.51
, pp. 452-457
-
-
Chabriat, H.1
Levy, C.2
Taillia, H.3
|