Literature DB >> 15122722

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

Dominique J Verlaan, Sandra B Laurent, Daniel L Rochefort, Christina L Liquori, Douglas A Marchuk, Adrian M Siegel, Guy A Rouleau.   

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Year:  2004        PMID： 15122722     DOI： 10.1002/ana.20112

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  10 in total

Review 1.  Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Authors:  Stefanie Spiegler; Matthias Rath; Christin Paperlein; Ute Felbor
Journal:  Mol Syndromol       Date:  2018-01-25

Review 2.  Genetics of cerebral cavernous malformations.

Authors:  Nicholas W Plummer; Jon S Zawistowski; Douglas A Marchuk
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

3.  Clinical impact of CCM mutation detection in familial cavernous angioma.

Authors:  Oguzkan Sürücü; Ulrich Sure; Sabine Gaetzner; Sonja Stahl; Ludwig Benes; Helmut Bertalanffy; Ute Felbor
Journal:  Childs Nerv Syst       Date:  2006-09-16       Impact factor: 1.475

4.  [Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families].

Authors:  A M Siegel; H Bertalanffy; J J Dichgans; C E Elger; H Hopf; N Hopf; M Keidel; A Kleider; G Nowak; R A Pfeiffer; J Schramm; S Spuck; H Stefan; U Sure; C R Baumann; G A Rouleau; D J Verlaan; E Andermann; F Andermann
Journal:  Nervenarzt       Date:  2005-02       Impact factor: 1.214

5.  Deletions in CCM2 are a common cause of cerebral cavernous malformations.

Authors:  Christina L Liquori; Michel J Berg; Ferdinando Squitieri; Tracey P Leedom; Louis Ptacek; Eric W Johnson; Douglas A Marchuk
Journal:  Am J Hum Genet       Date:  2006-11-14       Impact factor: 11.025

6.  Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate.

Authors:  Christopher F Dibble; Jeremy A Horst; Michael H Malone; Kun Park; Brenda Temple; Holly Cheeseman; Justin R Barbaro; Gary L Johnson; Sompop Bencharit
Journal:  PLoS One       Date:  2010-07-23       Impact factor: 3.240

7.  Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families.

Authors:  C Graeni; F Stepper; M Sturzenegger; A Merlo; D J Verlaan; F Andermann; C R Baumann; F Bonassin; D Georgiadis; R W Baumgartner; G A Rouleau; A M Siegel
Journal:  Neurosurg Rev       Date:  2009-09-17       Impact factor: 3.042

8.  A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.

Authors:  Carol J Gallione; Ann Solatycki; Issam A Awad; James L Weber; Douglas A Marchuk
Journal:  Genet Med       Date:  2011-07       Impact factor: 8.822

9.  Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

Authors:  Rufino Mondéjar; Francisca Solano; Rocío Rubio; Mercedes Delgado; Angel Pérez-Sempere; Antonio González-Meneses; Teresa Vendrell; Guillermo Izquierdo; Amalia Martinez-Mir; Miguel Lucas
Journal:  PLoS One       Date:  2014-01-23       Impact factor: 3.240

10.  Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.

Authors:  Kazuhiro Ishii; Naoki Tozaka; Satoshi Tsutsumi; Ai Muroi; Akira Tamaoka
Journal:  Medicine (Baltimore)       Date:  2020-07-17       Impact factor: 1.817
  10 in total

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