Results 161 to 170 of about 3,789 (186)

Concurrent multiple cerebral cavernous malformations and cauda equina paraganglioma: illustrative case. [PDF]

J Neurosurg Case Lessons
Liu D, Rodriguez M, Ross D, Ghahreman A.
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Immune DNA methylation in depression: cross-sectional and longitudinal study. [PDF]

BJPsych Open
Herrera-Rivero M, Nauck M, Berger K, Baune BT.   +3 more
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Current and Future Treatment Options for Cerebral Cavernous Malformations. [PDF]

Stroke Vasc Interv Neurol
Morrison L, Gutierrez J, Ayata C, Lopez-Toledano M, Carrazana E, Awad I, Rabinowicz AL, Kim H.   +7 more
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Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations. [PDF]

Neurol Genet
Ayata C, Kim H, Morrison L, Liao JK, Gutierrez J, Lopez-Toledano M, Carrazana E, Rabinowicz AL, Awad IA.   +8 more
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Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings. [PDF]

J Vasc Anom (Phila)
Britt A, Bolli A, Treat J, Cahill AM, Adams D, Ganguly A, Queenan M, Surrey L, Low D, Sheppard S.   +9 more
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Novel Factors Regulating Proliferation, Migration, and Differentiation of Fibroblasts, Keratinocytes, and Vascular Smooth Muscle Cells during Wound Healing. [PDF]

Biomedicines
Smith J, Rai V.
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Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations

Journal of Medical Genetics, 2020
Background Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three CCM genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub. Very few CCM2
Bergametti, Françoise, Viot, Geraldine, Verny, Christophe, Brechard, Marie Pierre, Denier, Christian, Labauge, Pierre, Petit, Paul, Nouet, Aurélien, Viallet, François, Chaussenot, Annabelle, Hervé, Dominique, Tournier-Lasserve, Elisabeth, Riant, Florence   +12 more
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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

Human Mutation, 2008
Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mutations.
Stahl, S, Gaetzner, S, Voss, K, Brackertz, B, Schleider, E, Sürücü, O, Kunze, E, Netzer, C, Korenke, C, Finckh, U, Habek, M, Poljakovic, Z, Elbracht, M, Rudnik-Schöneborn, S, Bertalanffy, H, Sure, U, Felbor, U   +16 more
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