-
1
-
-
0031590602
-
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
-
DOI 10.1016/S0140-6736(97)08083-5
-
Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350(9090):1511- 1515. (Pubitemid 28036555)
-
(1997)
Lancet
, vol.350
, Issue.9090
, pp. 1511-1515
-
-
Joutel, A.1
Vahedi, K.2
Corpechot, C.3
Troesch, A.4
Chabriat, H.5
Vayssiere, C.6
Cruaud, C.7
Maciazek, J.8
Weissenbach, J.9
Bousser, M.-G.10
Bach, J.-F.11
Tournier-Lasserve, E.12
-
2
-
-
37749016155
-
First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
-
Mazzei R, Guidetti D, Ungaro C, et al. First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL. J Neurol Neurosurg Psychiatry. 2008; 79(1):108-110.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, Issue.1
, pp. 108-110
-
-
Mazzei, R.1
Guidetti, D.2
Ungaro, C.3
-
3
-
-
65249114174
-
Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients
-
Tikka S, Mykkänen K, Ruchoux MM, et al. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain. 2009;132(pt 4):933-939.
-
(2009)
Brain
, vol.132
, Issue.PART 4
, pp. 933-939
-
-
Tikka, S.1
Mykkänen, K.2
Ruchoux, M.M.3
-
4
-
-
3543151330
-
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
-
Mazzei R, Conforti FL, Lanza PL, et al. A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. Neurology. 2004;63 (3):561-564. (Pubitemid 39031395)
-
(2004)
Neurology
, vol.63
, Issue.3
, pp. 561-564
-
-
Mazzei, R.1
Conforti, F.L.2
Lanza, P.L.3
Sprovieri, T.4
Lupo, M.R.5
Gallo, O.6
Patitucci, A.7
Magariello, A.8
Caracciolo, M.9
Gabriele, A.L.10
Fera, F.11
Valentino, P.12
Bono, F.13
Cenacchi, G.14
Santoro, G.15
Muglia, M.16
Quattrone, A.17
-
5
-
-
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(9):1714-1717. (Pubitemid 33055498)
-
(2001)
Neurology
, vol.57
, Issue.9
, pp. 1714-1717
-
-
Dichgans, M.1
Herzog, J.2
Gasser, T.3
-
6
-
-
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(9):1874-1875. (Pubitemid 30428427)
-
(2000)
Neurology
, vol.54
, Issue.9
, pp. 1874-1875
-
-
Joutel, A.1
Chabriat, H.2
Vahedi, K.3
Domenga, V.4
Vayssiere, C.5
Ruchoux, M.M.6
Lucas, C.7
Leys, D.8
Bousser, M.G.9
Tournier-Lasserve, E.10
-
7
-
-
2942529368
-
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL
-
DOI 10.1001/archneur.61.6.942
-
Dotti MT, De Stefano N, Bianchi S, et al. A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. Arch Neurol. 2004; 61(6):942-945. (Pubitemid 38747338)
-
(2004)
Archives of Neurology
, vol.61
, Issue.6
, pp. 942-945
-
-
Dotti, M.T.1
De Stefano, N.2
Bianchi, S.3
Malandrini, A.4
Battisti, C.5
Cardaioli, E.6
Federico, A.7
-
8
-
-
0030884876
-
CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
-
Ruchoux MM, Maurage CA. CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol. 1997;56(9):947-964.
-
(1997)
J Neuropathol Exp Neurol
, vol.56
, Issue.9
, pp. 947-964
-
-
Ruchoux, M.M.1
Maurage, C.A.2
-
9
-
-
17644438177
-
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients
-
Joutel A, Andreux F, Gaulis S, et al. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest. 2000; 105(5):597-605. (Pubitemid 30146506)
-
(2000)
Journal of Clinical Investigation
, vol.105
, Issue.5
, pp. 597-605
-
-
Joutel, A.1
Andreux, F.2
Gaulis, S.3
Domenga, V.4
Cecillon, M.5
Battail, N.6
Piga, N.7
Chapon, F.8
Godfrain, C.9
Tournier-Lasserve, E.10
-
10
-
-
85056030332
-
Investigation of the NOTCH3 and TNFSF7 genes on C19p13 as candidates for migraine
-
Smith RA, Curtain R, Ovcaric M, Tajouri L, Macmillan J, Griffiths L. Investigation of the NOTCH3 and TNFSF7 genes on C19p13 as candidates for migraine. Open Neurol J. 2008;2:1-7.
-
(2008)
Open Neurol J
, vol.2
, pp. 1-7
-
-
Smith, R.A.1
Curtain, R.2
Ovcaric, M.3
Tajouri, L.4
Macmillan, J.5
Griffiths, L.6
-
11
-
-
6444242560
-
Detection of the founder effect in Finnish CADASIL families
-
DOI 10.1038/sj.ejhg.5201221
-
Mykkänen K, Savontaus ML, Juvonen V, et al. Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet. 2004;12(10):813-819. (Pubitemid 39406065)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.10
, pp. 813-819
-
-
Mykkanen, K.1
Savontaus, M.-L.2
Juvonen, V.3
Sistonen, P.4
Tuisku, S.5
Tuominen, S.6
Penttinen, M.7
Lundkvist, J.8
Viitanen, M.9
Kalimo, H.10
Poyhonen, M.11
-
12
-
-
62549113404
-
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese
-
Lee YC, Liu CS, Chang MH, et al. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol. 2009; 256(2):249-255.
-
(2009)
J Neurol
, vol.256
, Issue.2
, pp. 249-255
-
-
Lee, Y.C.1
Liu, C.S.2
Chang, M.H.3
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