Harvard Catalyst Profiles

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

Concepts

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

0.434
  1. Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia. Cell Rep. 2020 06 23; 31(12):107780.
    View in: PubMed
    Score: 0.065
  2. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. Hum Mol Genet. 2019 09 01; 28(17):2952-2964.
    View in: PubMed
    Score: 0.061
  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: 0.060
  4. 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: 0.057
  5. mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465.
    View in: PubMed
    Score: 0.054
  6. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 08; 32(9):840-845.
    View in: PubMed
    Score: 0.052
  7. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253.
    View in: PubMed
    Score: 0.015
  8. 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: 0.015
  9. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63.
    View in: PubMed
    Score: 0.015
  10. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 05 21; 8(1):7907.
    View in: PubMed
    Score: 0.014
  11. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318.
    View in: PubMed
    Score: 0.014
  12. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48.
    View in: PubMed
    Score: 0.011
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.