Murat Gunel, MD

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2014- Neurosurgery Yale University, New Haven, CT 
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"Murat Gunel"
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Publications

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Li H, Bielas SL, Zaki MS, et al. (2016) Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal of Human Genetics
Shi C, Shenkar R, Zeineddine HA, et al. (2016) B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models. Journal of Neuroimmune Pharmacology : the Official Journal of the Society On Neuroimmune Pharmacology
Reshetnyak AV, Murray PB, Shi X, et al. (2015) Augmentor α and β (FAM150) are ligands of the receptor tyrosine kinases ALK and LTK: Hierarchy and specificity of ligand-receptor interactions. Proceedings of the National Academy of Sciences of the United States of America
Guemez-Gamboa A, Nguyen LN, Yang H, et al. (2015) Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47: 809-13
He P, Grotzke JE, Ng BG, et al. (2015) A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 25: 836-44
Akizu N, Cantagrel V, Zaki MS, et al. (2015) Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34
Murray PB, Lax I, Reshetnyak A, et al. (2015) Heparin is an activating ligand of the orphan receptor tyrosine kinase ALK. Science Signaling. 8: ra6
Shenkar R, Shi C, Rebeiz T, et al. (2015) Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 17: 188-96
Ercan-Sencicek AG, Jambi S, Franjic D, et al. (2015) Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal of Human Genetics : Ejhg. 23: 165-72
Caglayan AO, Baranoski JF, Aktar F, et al. (2014) Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatric Neurology. 51: 806-813.e8
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