(Q47227637)

12 January 2018

title

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations (English)

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author

Anne Joutel

9

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Elisabeth Tournier-Lasserve

10

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author name string

Christian Denier

1

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Pierre Labauge

2

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Laurent Brunereau

3

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Florence Cavé-Riant

4

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Florence Marchelli

5

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Minh Arnoult

6

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Michaelle Cecillon

7

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Jacqueline Maciazek

8

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Sociéte Française de Neurochirgurgie

11

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Sociéte de Neurochirurgie de Langue Française

12

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language of work or name

English

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publication date

1 February 2004

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12 January 2018

published in

Annals of Neurology

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volume

55

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issue

2

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page(s)

213-220

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Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie.

cites work

1 reference

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

21 January 2018

1 reference

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

21 January 2018

1 reference

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

21 January 2018

1 reference

Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22

21 January 2018

1 reference

Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation

21 January 2018

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KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis

21 January 2018

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Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

21 January 2018

1 reference

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation

21 January 2018

1 reference

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.

21 January 2018

1 reference

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

21 January 2018

1 reference

Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test

21 January 2018

1 reference

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans

21 January 2018

1 reference

An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.

21 January 2018

1 reference

Mutations in KRIT1 in familial cerebral cavernous malformations.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10804

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12 January 2018

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