(Q44480150)

3 December 2017

title

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

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3 December 2017

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4

Giuseppe Viale

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3 December 2017

Valeria Marini

1

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3 December 2017

Loretta Ferrera

2

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3 December 2017

Alessandra Dorcaratto

3

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3 December 2017

Paola Origone

5

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3 December 2017

Cristina Mareni

6

1 reference

3 December 2017

Cecilia Garrè

7

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3 December 2017

publication date

1 August 2003

1 reference

Journal of the Neurological Sciences

3 December 2017

published in

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3 December 2017

volume

212

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3 December 2017

issue

1-2

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3 December 2017

page(s)

75-78

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Cerebral cavernous malformations. Incidence and familial occurrence

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

Cerebral cavernous malformations: mutations in Krit1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

Mutations in KRIT1 in familial cerebral cavernous malformations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900108-4

10.1016/S0022-510X(03)00108-4

7 January 2021

Identifiers

DOI

1 reference

3 December 2017

1 reference