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Identification of two novel mutations and of a novel critical region in the KRIT1 gene
Neurogenetics, 2006Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to hemorrhagic strokes and focal neurological signs. Mutations in three genes (KRIT1, MGC4607, and PDCD10) have been associated with CCMs.
V. Guarnieri +9 more
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Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality
World Neurosurgery, 2019Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with ...
Victor M, Lu, David J, Daniels
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KRIT1 helps cells to prevent oxidative stress.
2010KRIT1 is a gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral hemorrhage.
GOITRE, Luca +4 more
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Status epilepsy in CCM with KRIT1 gene change
European Journal of Paediatric Neurology, 2014Emily V. Craft, Pradeep C. Vasudevan
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Novel insights into the implication of KRIT1 in the maintenance of ROS homeostasis
2011KRIT1 is a gene responsible for Cerebral Cavernous Malformations (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral haemorrhage. Comprehensive analysis of the KRIT1 gene in CCM patients has suggested that KRIT1 functions need
GOITRE, Luca +5 more
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Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy.
BMJ case reports, 2013The authors present the case of a 25-year-old individual who presented acutely following a generalised tonic-clonic seizure. Brain MRI of the individual demonstrated the classical appearance of multiple cerebral cavernous haemangiomas (cavernomas). There was an autosomal dominant family history.
Sanjeev, Rajakulendran +2 more
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Cutaneous venous malformation due to krit1 mutation: a case report
2012Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations (CCM) can occur sporadically or as an autosomal dominant condition, with incomplete penetrance and variable clinical expression.
LULLI, Patrizia +8 more
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