Results 1 to 10 of about 3,068 (175)

Circulating biomarkers in familial cerebral cavernous malformationResearch in context [PDF]

EBioMedicine
Summary: Background: Cerebral Cavernous Malformation (CCM) is a rare cerebrovascular disease, characterized by the presence of multiple vascular malformations that may result in intracerebral hemorrhages (ICHs), seizure(s), or focal neurological ...
Francesca Lazzaroni, Jennifer M.T.A. Meessen, Ying Sun, Silvia Lanfranconi, Elisa Scola, Quintino Giorgio D'Alessandris, Laura Tassi, Maria Rita Carriero, Marco Castori, Silvia Marino, Adriana Blanda, Enrico B. Nicolis, Deborah Novelli, Roberta Calabrese, Nicolò M. Agnelli, Barbara Bottazzi, Roberto Leone, Selene Mazzola, Silvia Besana, Carlotta Catozzi, Luigi Nezi, Maria G. Lampugnani, Matteo Malinverno, Nastasja Grdseloff, Claudia J. Rödel, Behnam Rezai Jahromi, Niccolò Bolli, Francesco Passamonti, Peetra U. Magnusson, Salim Abdelilah-Seyfried, Elisabetta Dejana, Roberto Latini   +31 more
doaj   +7 more sources

Intracranial Hemorrhage Rate and Lesion Burden in Patients With Familial Cerebral Cavernous Malformation [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Familial cerebral cavernous alformation (CCM) is an autosomal dominant disease caused by mutations in KRIT1, CCM2, or PDCD10. Cases typically present with multiple lesions, strong family history, and neurological symptoms, including seizures ...
Shantel Weinsheimer, Jeffrey Nelson, Adib A. Abla, Nerissa U. Ko, Cynthia Tsang, Obiora Okoye, Joseph M. Zabramski, Amy Akers, Atif Zafar, Marc C. Mabray, Blaine L. Hart, Leslie Morrison, Charles E. McCulloch, Helen Kim   +13 more
doaj   +2 more sources

Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden [PDF]

Annals of Clinical and Translational Neurology, 2023
Objective Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10.
Seondeuk Kim, Jangsup Moon, Keun‐Hwa Jung, Seon‐Jae Ahn, Han Sang Lee, Yoonhyuk Jang, Kyung‐Il Park, Sang Kun Lee, Kon Chu   +8 more
doaj   +2 more sources

Familial Multiple Cavernous Malformation Syndrome: MR Features in This Uncommon but Silent Threat [PDF]

Journal of the Belgian Society of Radiology, 2016
Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon.
Marc Mespreuve, Filip Vanhoenacker, Marc Lemmerling   +2 more
doaj   +5 more sources

Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background To investigate whether common variants in EPHB4 and RASA1 are associated with cerebral cavernous malformation (CCM) disease severity phenotypes, including intracranial hemorrhage (ICH), total and large lesion counts. Methods Familial CCM cases
Foram Choksi, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Christine K. Fox, Atif Zafar, Marc C. Mabray, Joseph Zabramski, Amy Akers, Blaine L. Hart, Leslie Morrison, Charles E. McCulloch, Helen Kim   +12 more
doaj   +2 more sources

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view [PDF]

Frontiers in Neuroscience, 2023
Cerebral cavernous malformations (CCMs) are common vascular anomaly diseases in the central nervous system associated with seizures, cerebral microbleeds, or asymptomatic mostly.
Yanming Chen, Xuchen Dong, Ye Wang, Haijun Lv, Nan Chen, Zhongyong Wang, Si Chen, Ping Chen, Sheng Xiao, Jizong Zhao, Jizong Zhao, Jizong Zhao, Jun Dong   +12 more
doaj   +2 more sources

The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation [PDF]

Interdisciplinary Neurosurgery, 2021
Background and Objectives: Cerebral cavernous malformation (CCM) is a neurovascular disease characterized by abnormally expanded and tortuous microvessels with increased predisposition to thrombosis and focal hemorrhage.
Autilia Tommasina Buonagura, Teresa Somma, Francesca Vitulli, Giuseppina Vitiello, Immacolata Andolfo, Felice Esposito, Roberta Russo, Achille Iolascon, Paolo Cappabianca   +8 more
doaj   +3 more sources

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial [PDF]

Trials, 2020
Background Cerebral cavernous malformations (CCMs) are vascular malformations characterized by clusters of enlarged leaky capillaries in the central nervous system.
Silvia Lanfranconi, Elisa Scola, Giulio Andrea Bertani, Barbara Zarino, Roberto Pallini, Giorgio d’Alessandris, Emanuela Mazzon, Silvia Marino, Maria Rita Carriero, Emma Scelzo, Giuseppe Faragò, Marco Castori, Carmela Fusco, Antonio Petracca, Leonardo d’Agruma, Laura Tassi, Piergiorgio d’Orio, Maria Grazia Lampugnani, Enrico Bjorn Nicolis, Antonella Vasamì, Deborah Novelli, Valter Torri, Jennifer Marie Theresia Anna Meessen, Rustam Al-Shahi Salman, Elisabetta Dejana, Roberto Latini, the Treat-CCM Investigators   +26 more
doaj   +2 more sources

Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]

Korean Journal of Pediatrics, 2016
Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko   +5 more
doaj   +2 more sources

Association of Quality of Life Domains and Clinical Symptoms in Patients With Familial Cerebral Cavernous Malformation [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Familial cerebral cavernous malformation (fCCM) is characterized by multiple brain lesions affecting quality of life. PROMIS‐29 (Patient‐Reported Outcomes Measurement Information System 29) is a quality of life survey validated in some ...
Cynthia Tsang, Jeffrey Nelson, Rachel Vassar, Nerissa U. Ko, Charles McCulloch, Edward R. Smith, Sudhakar Vadivelu, Amy Akers, Cornelia Lee, Joseph Zabramski, Michel T. Torbey, Issam A. Awad, Helen Kim   +12 more
doaj   +2 more sources