Results 201 to 209 of about 6,501 (209)

A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene

Acta Neurologica Belgica, 2020
Muhammedameen Noushad, S. Bhattacharjee, S. Weatherby, P. Whitefield   +3 more
semanticscholar   +1 more source

A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study

Journal of Molecular Neuroscience, 2017
Chenlong Yang, Van Halm-Lutterodt Nicholas, Ji-zong Zhao, Bing-quan Wu, H. Zhong, Yan Li, Yulun Xu   +6 more
semanticscholar   +1 more source

Management of brothers with haemophilia A and familial cerebral cavernous malformations

Haemophilia, 2018
Kevin J. Zhang, M. Chitlur
openaire   +1 more source

Circulating biomarkers in familial cerebral cavernous malformation

EBioMedicine
Francesca Lazzaroni, Silvia Lanfranconi, Maria Rita Carriero   +2 more
exaly  

A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans

New England Journal of Medicine, 1996
Murat Günel, Issam A Awad, Leslie A Morrison   +2 more
exaly  

Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population

Journal of Molecular Neuroscience, 2016
Chenlong Yang, Ji-zong Zhao, Bing-quan Wu, H. Zhong, Yan Li, Yulun Xu   +5 more
semanticscholar   +1 more source

A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study

Journal of Molecular Neuroscience, 2017
Chenlong Yang, Jizong Zhao, Yulun Xu
exaly  

Familial cerebral cavernous malformations in a child with KRIT1 gene

QJM: An International Journal of Medicine
Singanamalla, Bhanudeep, Bramhini Bhargavi, Koneti   +1 more
openaire   +2 more sources

Teaching NeuroImage: Familial Cerebral Cavernous Malformation in PDCD10 Genotype

Neurology
Mary Clare McKenna, Jana Kleinerova, Asya Tacheva, Janice Redmond, Peter Bede   +4 more
openaire   +2 more sources