Harvard Catalyst Profiles

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Mustafa Sahin, Ph.D., M.D.

Concepts

This page shows the publications Mustafa Sahin has written about Mutation.
Connection Strength

0.569
  1. Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. J Neurosci. 2019 11 20; 39(47):9294-9305.
    View in: PubMed
    Score: 0.147
  2. The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. Clin Pharmacol Ther. 2018 10; 104(4):603-606.
    View in: PubMed
    Score: 0.136
  3. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240.
    View in: PubMed
    Score: 0.036
  4. mTOR'ing across the Cortex by Chopping the Cilia. Neuron. 2018 07 11; 99(1):3-5.
    View in: PubMed
    Score: 0.034
  5. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 10 18; 17(4):1053-1070.
    View in: PubMed
    Score: 0.030
  6. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637.
    View in: PubMed
    Score: 0.028
  7. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015 Nov 20; 350(6263).
    View in: PubMed
    Score: 0.028
  8. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43.
    View in: PubMed
    Score: 0.026
  9. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012 Aug 30; 488(7413):647-51.
    View in: PubMed
    Score: 0.022
  10. A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures. Methods Mol Biol. 2012; 821:393-405.
    View in: PubMed
    Score: 0.021
  11. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643.
    View in: PubMed
    Score: 0.009
  12. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500.
    View in: PubMed
    Score: 0.008
  13. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318.
    View in: PubMed
    Score: 0.008
  14. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome. Pediatr Neurol. 2017 02; 67:59-63.
    View in: PubMed
    Score: 0.007
  15. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48.
    View in: PubMed
    Score: 0.007
  16. The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models. J Neurosci. 2013 Apr 10; 33(15):6557-62.
    View in: PubMed
    Score: 0.006
  17. Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008 Sep 15; 22(18):2485-95.
    View in: PubMed
    Score: 0.004
  18. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci. 2008 May 21; 28(21):5422-32.
    View in: PubMed
    Score: 0.004
  19. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. . 2006 Aug 01; 140(15):1692-5.
    View in: PubMed
    Score: 0.004
  20. Regulation of EphA 4 kinase activity is required for a subset of axon guidance decisions suggesting a key role for receptor clustering in Eph function. Neuron. 2005 Aug 18; 47(4):515-28.
    View in: PubMed
    Score: 0.003
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.