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Items: 1 to 20 of 82

1.

Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.

Ahearn EP, Speer MC, Chen YT, Steffens DC, Cassidy F, Van Meter S, Provenzale JM, Weisler RH, Krishnan KR.

Am J Med Genet. 2002 Aug 8;114(6):652-8.

PMID:
12210282
2.

[Vascular hereditary dementia CADASIL type in Colombia. III. Linkage analysis to notch3 gene].

Arcos-Burgos OM, Restrepo Arango T, Rivera Valencia D, Palacio LG, Castañeda M, Palacio O, Arboleda Velázquez J, Lopera Restrepo F.

Rev Neurol. 2001 Apr 16-30;32(8):701-4. Spanish.

PMID:
11391502
3.

Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL.

Uyama E, Tokunaga M, Suenaga A, Kotorii S, Kamimura K, Takahashi K, Tabira T, Uchino M.

Intern Med. 2000 Sep;39(9):732-7.

4.

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 RL, Muglia M, De Stefano N, Mazzei R, Labate A, Conforti FL, Patitucci A, Gabriele AL, Tagarelli G, Magariello A, Zappia M, Gambardella A, Federico A, Quattrone A.

Arch Neurol. 2001 Sep;58(9):1418-22.

PMID:
11559313
5.
6.

De novo mutation in the Notch3 gene causing CADASIL.

Joutel A, Dodick DD, Parisi JE, Cecillon M, Tournier-Lasserve E, Bousser MG.

Ann Neurol. 2000 Mar;47(3):388-91.

PMID:
10716263
7.

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.

8.

CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.

Utku U, Celik Y, Uyguner O, Yüksel-Apak M, Wollnik B.

Eur J Neurol. 2002 Jan;9(1):23-8.

PMID:
11784372
9.
10.

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

Mazzei R, Conforti FL, Lanza PL, Sprovieri T, Lupo MR, Gallo O, Patitucci A, Magariello A, Caracciolo M, Gabriele AL, Fera F, Valentino P, Bono F, Cenacchi G, Santoro G, Muglia M, Quattrone A.

Neurology. 2004 Aug 10;63(3):561-4.

PMID:
15304596
11.

Cerebral hemodynamics and white matter hyperintensities in CADASIL.

van den Boom R, Lesnik Oberstein SA, Spilt A, Behloul F, Ferrari MD, Haan J, Westendorp RG, van Buchem MA.

J Cereb Blood Flow Metab. 2003 May;23(5):599-604.

PMID:
12771575
12.

[NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].

Wang ZX, Lu H, Zhang Y, Bu DF, Niu XY, Zhang Z, Huang YN, Yuan Y.

Zhonghua Yi Xue Za Zhi. 2004 Jul 17;84(14):1175-80. Chinese.

PMID:
15387979
13.

Recurrent hemiplegia, normal MRI, and NOTCH3 mutation in a 14-year-old: is this early CADASIL?

Golomb MR, Sokol DK, Walsh LE, Christensen CK, Garg BP.

Neurology. 2004 Jun 22;62(12):2331-2. No abstract available.

PMID:
15210914
14.

[Analysis of complex segregation in a large family with hereditary cerebrovascular disease in Antioquia, Colombia].

Lopera F, Rivera N, Arboleda J, Restrepo T, Arcos-Burgos M.

Rev Neurol. 2001 Feb 1-15;32(3):222-5. Spanish.

PMID:
11310272
15.

Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis.

Dong Y, Hassan A, Zhang Z, Huber D, Dalageorgou C, Markus HS.

Stroke. 2003 Jan;34(1):203-5.

16.

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
17.

The spectrum of mutations for CADASIL diagnosis.

Federico A, Bianchi S, Dotti MT.

Neurol Sci. 2005 Jun;26(2):117-24. Review.

PMID:
15995828
18.

Migraine with aura and white matter abnormalities: Notch3 mutation.

Ceroni M, Poloni TE, Tonietti S, Fabozzi D, Uggetti C, Frediani F, Simonetti F, Malaspina A, Alimonti D, Celano M, Ferrari M, Carrera P.

Neurology. 2000 May 9;54(9):1869-71.

PMID:
10802804
19.

An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.

Guidetti D, Casali B, Mazzei RL, Cenacchi G, De Berti G, Zuccoli G, Nicoli D, Conforti FL, Sprovieri T, Pasquinelli G, Brini M.

Neurol Sci. 2004 Feb;24(6):401-6.

PMID:
14767686
20.

Familial leukoencephalopathy in bipolar disorder.

Ahearn EP, Steffens DC, Cassidy F, Van Meter SA, Provenzale JM, Seldin MF, Weisler RH, Krishnan KR.

Am J Psychiatry. 1998 Nov;155(11):1605-7.

PMID:
9812127

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