Literature DB >> 19224312

Familial cerebral cavernous malformations associated with a splice-site CCM2 deletion.

Adolfo Jiménez-Huete, Rafael Hortigüela, Elena Riva, Juan Bernar, Pedro Guardado Santervás, Jesús Esteban, Oriol Franch, Miguel Calero.   

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Year:  2009        PMID： 19224312     DOI： 10.1007/s00415-009-0070-8

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  5 in total

1.  Genotype-phenotype correlations in cerebral cavernous malformations patients.

Authors:  Christian Denier; Pierre Labauge; Françoise Bergametti; Florence Marchelli; Florence Riant; Minh Arnoult; Jacqueline Maciazek; Eric Vicaut; Laurent Brunereau; Elisabeth Tournier-Lasserve
Journal:  Ann Neurol       Date:  2006-11       Impact factor: 10.422

2.  The MRI appearance of cavernous malformations (angiomas).

Authors:  D Rigamonti; B P Drayer; P C Johnson; M N Hadley; J Zabramski; R F Spetzler
Journal:  J Neurosurg       Date:  1987-10       Impact factor: 5.115

Review 3.  Genetics of cavernous angiomas.

Authors:  Pierre Labauge; Christian Denier; Francoise Bergametti; Elisabeth Tournier-Lasserve
Journal:  Lancet Neurol       Date:  2007-03       Impact factor: 44.182

4.  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

5.  Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

Authors:  Sonja Stahl; Sabine Gaetzner; Katrin Voss; Bettina Brackertz; Elisa Schleider; Oguzkan Sürücü; Ekkehard Kunze; Christian Netzer; Christoph Korenke; Ulrich Finckh; Mario Habek; Zdravka Poljakovic; Miriam Elbracht; Sabine Rudnik-Schöneborn; Helmut Bertalanffy; Ulrich Sure; Ute Felbor
Journal:  Hum Mutat       Date:  2008-05       Impact factor: 4.878
  5 in total
  2 in total

1.  Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.

Authors:  Qin Du; Ziyan Shi; Hongxi Chen; Ying Zhang; Jiancheng Wang; Hongyu Zhou
Journal:  J Mol Neurosci       Date:  2019-01-30       Impact factor: 3.444

2.  Advances in the biology of cerebral cavernous malformations.

Authors:  Jason S Hauptman; Parham Moftakhar; Andrew Dadour; Dennis Malkasian; Neil A Martin
Journal:  Surg Neurol Int       Date:  2010-10-11
  2 in total

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