Cysteine-sparing Notch3 mutations:: CADASIL or CADASIL variants?

被引：29

作者：

Scheid, R. ^{[1
,4
]}

Heinritz, W. ^{[2
]}

Leyhe, T. ^{[5
]}

Thal, D. R. ^{[6
]}

Schober, R. ^{[3
]}

Strenge, S. ^{[2
]}

von Cramon, D. Y. ^{[1
,4
]}

Froster, U. G. ^{[2
]}

机构：

[1] Univ Leipzig, Day Clin Cognit Neurol, D-04103 Leipzig, Germany

[2] Univ Leipzig, Dept Human Genet, D-04103 Leipzig, Germany

[3] Univ Leipzig, Dept Neuropathol, D-04103 Leipzig, Germany

[4] Max Planck Inst Human Cognit & Brain Sci, Leipzig, Germany

[5] Univ Tubingen, Dept Psychiat & Psychotherapy, D-72074 Tubingen, Germany

[6] Univ Ulm, Dept Neuropathol, D-89069 Ulm, Germany

来源：

NEUROLOGY | 2008年 / 71卷 / 10期

关键词：

D O I：

10.1212/01.wnl.0000324928.44694.f7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：774 / 776

页数：3

共 7 条

[1]

Escary JL, 2000, HUM MUTAT, V16, P518

[2] Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients [J].

Joutel, A ;

Vahedi, K ;

Corpechot, C ;

Troesch, A ;

Chabriat, H ;

Vayssiere, C ;

Cruaud, C ;

Maciazek, J ;

Weissenbach, J ;

Bousser, MG ;

Bach, JF ;

TournierLasserve, E .

LANCET, 1997, 350 (9090) :1511-1515

[3] Characteristics of CADASIL in Korea - A novel cysteine-sparing Notch3 mutation [J].

Kim, Y. ;

Choi, E. J. ;

Choi, C. G. ;

Kim, G. ;

Choi, J. H. ;

Yoo, H. W. ;

Kim, J. S. .

NEUROLOGY, 2006, 66 (10) :1511-1516

[4] Diagnostic value of ultrastructural skin biopsy studies in CADASIL [J].

Malandrini, A. ;

Gaudiano, C. ;

Gambelli, S. ;

Berti, G. ;

Serni, G. ;

Bianchi, S. ;

Federico, A. ;

Dotti, M. T. .

NEUROLOGY, 2007, 68 (17) :1430-1432

[5] Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis [J].

Santa, Y ;

Uyama, E ;

Chui, DH ;

Arima, M ;

Kotorii, S ;

Takahashi, K ;

Tabira, T .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2003, 212 (1-2) :79-84

[6] Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan [J].

Uchino, M ;

Hirano, T ;

Uyama, E ;

Hashimoto, Y .

ALZHEIMER'S DISEASE: VASCULAR ETIOLOGY AND PATHOLOGY, 2002, 977 :273-278

[7] Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages - 3rd-6th decades [J].

van den Boom, R ;

Oberstein, SAJL ;

Ferrari, MD ;

Haan, J ;

van Buchem, MA .

RADIOLOGY, 2003, 229 (03) :683-690

← 1 →