Harvard Catalyst Profiles

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

Concepts

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

13.175
  1. Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex. Mol Autism. 2020 02 19; 11(1):16.
    View in: PubMed
    Score: 0.487
  2. Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons. Adv Neurobiol. 2020; 25:1-31.
    View in: PubMed
    Score: 0.482
  3. 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: 0.475
  4. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240.
    View in: PubMed
    Score: 0.460
  5. Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. Mol Psychiatry. 2018 11; 23(11):2167-2183.
    View in: PubMed
    Score: 0.424
  6. 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: 0.418
  7. Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. J Exp Med. 2017 03 06; 214(3):681-697.
    View in: PubMed
    Score: 0.395
  8. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. Autophagy. 2017 Apr 03; 13(4):754-756.
    View in: PubMed
    Score: 0.394
  9. 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: 0.386
  10. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 07; 60:1-12.
    View in: PubMed
    Score: 0.372
  11. Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex. J Child Neurol. 2015 Dec; 30(14):1954-62.
    View in: PubMed
    Score: 0.357
  12. The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. J Neurosci. 2015 Jul 29; 35(30):10762-72.
    View in: PubMed
    Score: 0.355
  13. Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. Neurotherapeutics. 2015 Jul; 12(3):572-83.
    View in: PubMed
    Score: 0.353
  14. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74.
    View in: PubMed
    Score: 0.322
  15. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. 2014 Apr; 50(4):290-6.
    View in: PubMed
    Score: 0.317
  16. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream. Curr Opin Neurobiol. 2012 Oct; 22(5):895-901.
    View in: PubMed
    Score: 0.284
  17. A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures. Methods Mol Biol. 2012; 821:393-405.
    View in: PubMed
    Score: 0.277
  18. Translational research: Rett syndrome and tuberous sclerosis complex. Curr Opin Pediatr. 2011 Dec; 23(6):633-9.
    View in: PubMed
    Score: 0.275
  19. Pediatric epileptology. Epilepsy Behav. 2011 Sep; 22(1):32-7.
    View in: PubMed
    Score: 0.265
  20. Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex. Curr Opin Neurol. 2011 Apr; 24(2):106-13.
    View in: PubMed
    Score: 0.263
  21. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009 May 06; 29(18):5926-37.
    View in: PubMed
    Score: 0.230
  22. Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol. 2008 Mar; 23(3):268-73.
    View in: PubMed
    Score: 0.211
  23. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. Ann Neurol. 2021 04; 89(4):726-739.
    View in: PubMed
    Score: 0.130
  24. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376.
    View in: PubMed
    Score: 0.123
  25. EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex. J Autism Dev Disord. 2020 Mar; 50(3):916-923.
    View in: PubMed
    Score: 0.122
  26. Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex. J Clin Neurophysiol. 2020 Jan; 37(1):79-86.
    View in: PubMed
    Score: 0.121
  27. Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex. Epilepsy Behav. 2020 02; 103(Pt A):106844.
    View in: PubMed
    Score: 0.120
  28. Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder. J Neurodev Disord. 2019 12 16; 11(1):36.
    View in: PubMed
    Score: 0.120
  29. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. 2019 12; 60(12):2428-2436.
    View in: PubMed
    Score: 0.119
  30. Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex. Autism Res. 2019 12; 12(12):1758-1773.
    View in: PubMed
    Score: 0.117
  31. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. J Neuroimaging. 2019 11; 29(6):750-759.
    View in: PubMed
    Score: 0.117
  32. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex. Epilepsia. 2019 08; 60(8):1721-1732.
    View in: PubMed
    Score: 0.117
  33. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex. J Child Neurol. 2019 10; 34(12):770-777.
    View in: PubMed
    Score: 0.117
  34. White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. Ann Clin Transl Neurol. 2019 07; 6(7):1178-1190.
    View in: PubMed
    Score: 0.116
  35. 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: 0.116
  36. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. Am Psychol. 2019 04; 74(3):356-367.
    View in: PubMed
    Score: 0.114
  37. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63.
    View in: PubMed
    Score: 0.114
  38. Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. Pediatr Neurol. 2019 01; 90:24-30.
    View in: PubMed
    Score: 0.111
  39. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. Neurology. 2018 11 20; 91(21):974-976.
    View in: PubMed
    Score: 0.111
  40. High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. Epilepsy Res. 2018 12; 148:1-7.
    View in: PubMed
    Score: 0.111
  41. Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex. Cereb Cortex. 2018 10 01; 28(10):3665-3672.
    View in: PubMed
    Score: 0.111
  42. 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: 0.110
  43. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. J Child Neurol. 2018 07; 33(8):519-524.
    View in: PubMed
    Score: 0.107
  44. Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex. Clin Neurophysiol. 2018 07; 129(7):1458-1466.
    View in: PubMed
    Score: 0.107
  45. 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: 0.107
  46. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. 2017 Dec; 140(6).
    View in: PubMed
    Score: 0.104
  47. Early autism symptoms in infants with tuberous sclerosis complex. Autism Res. 2017 Dec; 10(12):1981-1990.
    View in: PubMed
    Score: 0.102
  48. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy. Cell Rep. 2017 07 25; 20(4):868-880.
    View in: PubMed
    Score: 0.102
  49. Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. Pediatr Neurol. 2017 Oct; 75:80-86.
    View in: PubMed
    Score: 0.101
  50. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2017 06 15; 77(12):3255-3267.
    View in: PubMed
    Score: 0.100
  51. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 05; 70(Pt A):245-252.
    View in: PubMed
    Score: 0.100
  52. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016 Aug 23; 87(8):766-72.
    View in: PubMed
    Score: 0.095
  53. Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers. Pediatr Dermatol. 2016 Sep; 33(5):518-25.
    View in: PubMed
    Score: 0.095
  54. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 03; 85(18):1536-45.
    View in: PubMed
    Score: 0.090
  55. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan; 54:29-34.
    View in: PubMed
    Score: 0.090
  56. Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex. J Child Neurol. 2016 Feb; 31(2):195-202.
    View in: PubMed
    Score: 0.088
  57. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48.
    View in: PubMed
    Score: 0.087
  58. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr; 28(2):91-102.
    View in: PubMed
    Score: 0.087
  59. Altered Structural Brain Networks in Tuberous Sclerosis Complex. Cereb Cortex. 2016 May; 26(5):2046-58.
    View in: PubMed
    Score: 0.086
  60. Longitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex. Pediatr Neurol. 2015 Jun; 52(6):615-23.
    View in: PubMed
    Score: 0.086
  61. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan; 52(1):25-35.
    View in: PubMed
    Score: 0.084
  62. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology. 2014 Jul 08; 83(2):160-8.
    View in: PubMed
    Score: 0.082
  63. A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. Pediatr Neurol. 2013 Feb; 48(2):105-10.
    View in: PubMed
    Score: 0.075
  64. Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet. 2013 Jan; 43(1):51-9.
    View in: PubMed
    Score: 0.074
  65. Atypical face processing in children with tuberous sclerosis complex. J Child Neurol. 2013 Dec; 28(12):1569-76.
    View in: PubMed
    Score: 0.073
  66. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012 Aug 30; 488(7413):647-51.
    View in: PubMed
    Score: 0.073
  67. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 Oct 01; 21(19):4286-300.
    View in: PubMed
    Score: 0.072
  68. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cereb Cortex. 2013 Jul; 23(7):1526-32.
    View in: PubMed
    Score: 0.071
  69. Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. Acad Radiol. 2012 Jan; 19(1):17-25.
    View in: PubMed
    Score: 0.069
  70. Registration and analysis of white matter group differences with a multi-fiber model. Med Image Comput Comput Assist Interv. 2012; 15(Pt 3):313-20.
    View in: PubMed
    Score: 0.069
  71. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A. 2011 Nov 08; 108(45):E1070-9.
    View in: PubMed
    Score: 0.068
  72. TSC1/TSC2 signaling in the CNS. FEBS Lett. 2011 Apr 06; 585(7):973-80.
    View in: PubMed
    Score: 0.065
  73. Diffusion features of white matter in tuberous sclerosis with tractography. Pediatr Neurol. 2010 Feb; 42(2):101-6.
    View in: PubMed
    Score: 0.061
  74. 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: 0.054
  75. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008 May; 23(5):520-5.
    View in: PubMed
    Score: 0.052
  76. Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. Int J Cardiol. 2009 Feb 06; 132(1):145-7.
    View in: PubMed
    Score: 0.052
  77. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. Pediatr Dev Pathol. 2009 Mar-Apr; 12(2):89-95.
    View in: PubMed
    Score: 0.051
  78. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci. 2007 May 23; 27(21):5546-58.
    View in: PubMed
    Score: 0.050
  79. Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol. 2007 Feb; 36(2):128-31.
    View in: PubMed
    Score: 0.049
  80. Super-resolution reconstruction in frequency, image, and wavelet domains to reduce through-plane partial voluming in MRI. Med Phys. 2015 Dec; 42(12):6919-32.
    View in: PubMed
    Score: 0.023
  81. A mathematical framework for the registration and analysis of multi-fascicle models for population studies of the brain microstructure. IEEE Trans Med Imaging. 2014 Feb; 33(2):504-17.
    View in: PubMed
    Score: 0.020
  82. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity. BMC Med. 2013 Feb 27; 11:54.
    View in: PubMed
    Score: 0.019
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.