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Results: 1 to 20 of 130

1.

"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.

Ragno M, Pianese L, Morroni M, Cacchiò G, Manca A, Di Marzio F, Silvestri S, Miceli C, Scarcella M, Onofrj M, Trojano L.

Neurol Sci. 2013 Nov;34(11):1947-53. doi: 10.1007/s10072-013-1418-5. Epub 2013 Apr 10.

PMID:
23572112
[PubMed - indexed for MEDLINE]
2.

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 JO, Tuisku S, Kurki T, Marttila R, Pöyhönen M, Savontaus ML, Viitanen M, Kalimo H.

Stroke. 2001 Aug;32(8):1767-74.

PMID:
11486103
[PubMed - indexed for MEDLINE]
Free Article
3.

Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?

Guerrot D, François A, Boffa JJ, Boulos N, Hanoy M, Legallicier B, Triquenot-Bagan A, Guyant-Marechal L, Laquerriere A, Freguin-Bouilland C, Ronco P, Godin M.

Am J Kidney Dis. 2008 Aug;52(2):340-5. doi: 10.1053/j.ajkd.2008.04.017. Epub 2008 Jun 24.

PMID:
18572291
[PubMed - indexed for MEDLINE]
4.

[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].

Ueda M, Nakaguma R, Ando Y.

Rinsho Byori. 2009 Mar;57(3):242-51. Review. Japanese.

PMID:
19363995
[PubMed - indexed for MEDLINE]
5.

Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Kusaba T, Hatta T, Kimura T, Sonomura K, Tanda S, Kishimoto N, Kameyama H, Okigaki M, Mori Y, Ishigami N, Mizuno T, Nakagawa M, Matsubara H.

Clin Nephrol. 2007 Mar;67(3):182-7.

PMID:
17390743
[PubMed - indexed for MEDLINE]
6.

High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cappelli A, Ragno M, Cacchiò G, Scarcella M, Staffolani P, Pianese L.

Neurosci Lett. 2009 Sep 22;462(2):176-8. doi: 10.1016/j.neulet.2009.06.087. Epub 2009 Jul 2.

PMID:
19576955
[PubMed - indexed for MEDLINE]
7.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese.

Lee YC, Yang AH, Liu HC, Wong WJ, Lu YC, Chang MH, Soong BW.

J Neurol Sci. 2006 Jul 15;246(1-2):111-5. Epub 2006 Mar 31.

PMID:
16580020
[PubMed - indexed for MEDLINE]
8.

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Vinciguerra C, Rufa A, Bianchi S, Sperduto A, De Santis M, Malandrini A, Dotti MT, Federico A.

Neurol Sci. 2014 Jan;35(1):91-3. doi: 10.1007/s10072-013-1580-9. Epub 2013 Nov 26.

PMID:
24277202
[PubMed - indexed for MEDLINE]
9.

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

Tikka S, Mykkänen K, Ruchoux MM, Bergholm R, Junna M, Pöyhönen M, Yki-Järvinen H, Joutel A, Viitanen M, Baumann M, Kalimo H.

Brain. 2009 Apr;132(Pt 4):933-9. doi: 10.1093/brain/awn364. Epub 2009 Jan 27.

PMID:
19174371
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA.

Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7.

PMID:
24000151
[PubMed - indexed for MEDLINE]
11.

[CADASIL].

Uchino M.

Brain Nerve. 2008 Nov;60(11):1224-34. Review. Japanese.

PMID:
19069156
[PubMed - indexed for MEDLINE]
12.

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.

Pantoni L, Pescini F, Nannucci S, Sarti C, Bianchi S, Dotti MT, Federico A, Inzitari D.

Neurology. 2010 Jan 5;74(1):57-63. doi: 10.1212/WNL.0b013e3181c7da7c.

PMID:
20038773
[PubMed - indexed for MEDLINE]
13.

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.

Monet-Leprêtre M, Bardot B, Lemaire B, Domenga V, Godin O, Dichgans M, Tournier-Lasserve E, Cohen-Tannoudji M, Chabriat H, Joutel A.

Brain. 2009 Jun;132(Pt 6):1601-12. doi: 10.1093/brain/awp049. Epub 2009 Mar 17.

PMID:
19293235
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

[A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene].

Avila A, Bello J, Maho P, Gómez MI.

Neurologia. 2007 Sep;22(7):484-7. Spanish.

PMID:
17853970
[PubMed - indexed for MEDLINE]
15.

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Kim YE, Yoon CW, Seo SW, Ki CS, Kim YB, Kim JW, Bang OY, Lee KH, Kim GM, Chung CS, Na DL.

Neurobiol Aging. 2014 Mar;35(3):726.e1-6. doi: 10.1016/j.neurobiolaging.2013.09.004. Epub 2013 Oct 16.

PMID:
24139282
[PubMed - indexed for MEDLINE]
16.

[A cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy pedigree: clinical pathology, neuroimaging and molecular genetics studies].

Chang MZ, Wang XL, Di ZL, Zhang L, Zhang WP, Li Q, Mao J, Qin AJ, Tian Y, Chen HL.

Sichuan Da Xue Xue Bao Yi Xue Ban. 2011 Nov;42(6):866-9. Chinese.

PMID:
22332560
[PubMed - indexed for MEDLINE]
17.

Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation.

Kim Y, Choi EJ, Choi CG, Kim G, Choi JH, Yoo HW, Kim JS.

Neurology. 2006 May 23;66(10):1511-6.

PMID:
16717210
[PubMed - indexed for MEDLINE]
18.

The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.

Uyguner ZO, Siva A, Kayserili H, Saip S, Altintaş A, Apak MY, Albayram S, Işik N, Akman-Demir G, Taşyürekli M, Oz B, Wollnik B.

J Neurol Sci. 2006 Jul 15;246(1-2):123-30. Epub 2006 May 30.

PMID:
16730748
[PubMed - indexed for MEDLINE]
19.

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.

Lee YC, Liu CS, Chang MH, Lin KP, Fuh JL, Lu YC, Liu YF, Soong BW.

J Neurol. 2009 Feb;256(2):249-55. doi: 10.1007/s00415-009-0091-3. Epub 2009 Feb 26.

PMID:
19242647
[PubMed - indexed for MEDLINE]
20.

[Clinical features in 4 Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].

Lv H, Yao S, Zhang W, Wang ZX, Huang YN, Niu XY, Zhang Z, Yuan Y.

Beijing Da Xue Xue Bao. 2004 Oct;36(5):496-500. Chinese.

PMID:
15489930
[PubMed - indexed for MEDLINE]
Free Article
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