Literature DB >> 20623299

Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family.

Chi-un Choe, Florence Riant, Christian Gerloff, Elisabeth Tournier-Lasserve, Michael Orth.   

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Year:  2010        PMID： 20623299     DOI： 10.1007/s00415-010-5648-7

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


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  6 in total

1.  Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Authors:  Christina L Liquori; Michel J Berg; Ferdinando Squitieri; Monica Ottenbacher; Marielle Sorlie; Tracey P Leedom; Milena Cannella; Vittorio Maglione; Louis Ptacek; Eric W Johnson; Douglas A Marchuk
Journal:  Hum Mutat       Date:  2006-01       Impact factor: 4.878

2.  Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.

Authors:  Christina L Liquori; Silvana Penco; Judith Gault; Tracey P Leedom; Laura Tassi; Teresa Esposito; Issam A Awad; Luigi Frati; Eric W Johnson; Ferdinando Squitieri; Douglas A Marchuk; Fernando Gianfrancesco
Journal:  Neurogenetics       Date:  2007-12-01       Impact factor: 2.660

3.  Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

Authors:  Bulent Guclu; Ali K Ozturk; Katie L Pricola; Kaya Bilguvar; Dana Shin; Brian J O'Roak; Murat Gunel
Journal:  Neurosurgery       Date:  2005-11       Impact factor: 4.654

Review 4.  Genetics of cavernous angiomas.

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

5.  CCM3 mutations are uncommon in cerebral cavernous malformations.

Authors:  D J Verlaan; J Roussel; S B Laurent; C E Elger; A M Siegel; G A Rouleau
Journal:  Neurology       Date:  2005-12-27       Impact factor: 9.910

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

Authors:  H D Craig; M Günel; O Cepeda; E W Johnson; L Ptacek; G K Steinberg; C S Ogilvy; M J Berg; S C Crawford; R M Scott; E Steichen-Gersdorf; R Sabroe; C T Kennedy; G Mettler; M J Beis; A Fryer; I A Awad; R P Lifton
Journal:  Hum Mol Genet       Date:  1998-11       Impact factor: 6.150
  6 in total
  4 in total

Review 1.  Genetics of cerebral cavernous malformations: current status and future prospects.

Authors:  H Choquet; L Pawlikowska; M T Lawton; H Kim
Journal:  J Neurosurg Sci       Date:  2015-04-22       Impact factor: 2.279

2.  CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.

Authors:  F Riant; F Bergametti; H-D Fournier; F Chapon; S Michalak-Provost; M Cecillon; P Lejeune; H Hosseini; C Choe; M Orth; C Bernreuther; G Boulday; C Denier; P Labauge; E Tournier-Lasserve
Journal:  Mol Syndromol       Date:  2013-04-03

3.  PDCD10 gene mutations in multiple cerebral cavernous malformations.

Authors:  Maria Sole Cigoli; Francesca Avemaria; Stefano De Benedetti; Giovanni P Gesu; Lucio Giordano Accorsi; Stefano Parmigiani; Maria Franca Corona; Valeria Capra; Andrea Mosca; Simona Giovannini; Francesca Notturno; Fausta Ciccocioppo; Lilia Volpi; Margherita Estienne; Giuseppe De Michele; Antonella Antenora; Leda Bilo; Antonietta Tavoni; Nelia Zamponi; Enrico Alfei; Giovanni Baranello; Daria Riva; Silvana Penco
Journal:  PLoS One       Date:  2014-10-29       Impact factor: 3.240

4.  Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs).

Authors:  Selena Nicholas-Bublick; Boyd M Koffman
Journal:  Radiol Case Rep       Date:  2015-12-07
  4 in total

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