Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

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

Concepts

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

0.555
  1. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944.
    View in: PubMed
    Score: 0.011
  2. 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: 0.011
  3. Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex. Mol Autism. 2020 02 19; 11(1):16.
    View in: PubMed
    Score: 0.011
  4. 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: 0.010
  5. 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: 0.010
  6. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240.
    View in: PubMed
    Score: 0.010
  7. A unified circuit for social behavior. Neurobiol Learn Mem. 2019 11; 165:106920.
    View in: PubMed
    Score: 0.009
  8. 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: 0.009
  9. 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: 0.009
  10. Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 07 08; 41:1-23.
    View in: PubMed
    Score: 0.009
  11. Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine. Annu Int Conf IEEE Eng Med Biol Soc. 2017 Jul; 2017:442-445.
    View in: PubMed
    Score: 0.009
  12. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism. Mol Autism. 2017; 8:26.
    View in: PubMed
    Score: 0.009
  13. 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: 0.009
  14. Translational use of event-related potentials to assess circuit integrity in ASD. Nat Rev Neurol. 2017 03; 13(3):160-170.
    View in: PubMed
    Score: 0.009
  15. 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: 0.009
  16. 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: 0.008
  17. 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: 0.008
  18. Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. Hum Mol Genet. 2016 06 01; 25(11):2168-2181.
    View in: PubMed
    Score: 0.008
  19. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb; 139(Pt 2):317-37.
    View in: PubMed
    Score: 0.008
  20. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30.
    View in: PubMed
    Score: 0.008
  21. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015 Nov 20; 350(6263).
    View in: PubMed
    Score: 0.008
  22. Developing therapies for spinal muscular atrophy. Ann N Y Acad Sci. 2016 02; 1366(1):5-19.
    View in: PubMed
    Score: 0.008
  23. Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. Neurotherapeutics. 2015 Jul; 12(3):572-83.
    View in: PubMed
    Score: 0.008
  24. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. Neurotherapeutics. 2015 Jul; 12(3):519-20.
    View in: PubMed
    Score: 0.008
  25. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. Pediatr Neurol. 2015 Aug; 53(2):103-4.
    View in: PubMed
    Score: 0.008
  26. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr; 28(2):91-102.
    View in: PubMed
    Score: 0.008
  27. Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes. Handb Clin Neurol. 2015; 132:3-8.
    View in: PubMed
    Score: 0.007
  28. The neurology of mTOR. Neuron. 2014 Oct 22; 84(2):275-91.
    View in: PubMed
    Score: 0.007
  29. Gene therapy for childhood neurological disease. Pediatr Neurol. 2014 Nov; 51(5):595-6.
    View in: PubMed
    Score: 0.007
  30. 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: 0.007
  31. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. 2014 Apr; 50(4):290-6.
    View in: PubMed
    Score: 0.007
  32. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013 Jan 30; 66(1-2):53-7.
    View in: PubMed
    Score: 0.006
  33. 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: 0.006
  34. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50.
    View in: PubMed
    Score: 0.006
  35. A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures. Methods Mol Biol. 2012; 821:393-405.
    View in: PubMed
    Score: 0.006
  36. Translational research: Rett syndrome and tuberous sclerosis complex. Curr Opin Pediatr. 2011 Dec; 23(6):633-9.
    View in: PubMed
    Score: 0.006
  37. Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. Proc Natl Acad Sci U S A. 2011 Jun 21; 108(25):10337-42.
    View in: PubMed
    Score: 0.006
  38. Pediatric epileptology. Epilepsy Behav. 2011 Sep; 22(1):32-7.
    View in: PubMed
    Score: 0.006
  39. Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex. Curr Opin Neurol. 2011 Apr; 24(2):106-13.
    View in: PubMed
    Score: 0.006
  40. TSC1/TSC2 signaling in the CNS. FEBS Lett. 2011 Apr 06; 585(7):973-80.
    View in: PubMed
    Score: 0.006
  41. 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: 0.005
  42. Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol. 2008 Mar; 23(3):268-73.
    View in: PubMed
    Score: 0.005
  43. Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol. 2007 Feb; 36(2):128-31.
    View in: PubMed
    Score: 0.004
  44. Induction and assessment methods used in experimental adhesion studies. Wound Repair Regen. 2005 Jul-Aug; 13(4):358-64.
    View in: PubMed
    Score: 0.004
  45. Focal seizure and cerebral contrast retention after cardiac catheterization. Pediatr Neurol. 2005 Mar; 32(3):213-6.
    View in: PubMed
    Score: 0.004
  46. Prolonged treatment for acute symptomatic refractory status epilepticus: outcome in children. Neurology. 2003 Aug 12; 61(3):398-401.
    View in: PubMed
    Score: 0.003
  47. Outcome of severe refractory status epilepticus in children. Epilepsia. 2001 Nov; 42(11):1461-7.
    View in: PubMed
    Score: 0.003
  48. Prolonged treatment of refractory status epilepticus in a child. J Child Neurol. 2001 Feb; 16(2):147-50.
    View in: PubMed
    Score: 0.003
  49. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. Ann Neurol. 2021 04; 89(4):726-739.
    View in: PubMed
    Score: 0.003
  50. The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities. Am J Psychiatry. 2020 11 01; 177(11):1091-1093.
    View in: PubMed
    Score: 0.003
  51. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
    View in: PubMed
    Score: 0.003
  52. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376.
    View in: PubMed
    Score: 0.003
  53. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 04; 7(4):584-589.
    View in: PubMed
    Score: 0.003
  54. 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: 0.003
  55. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron. 2020 04 22; 106(2):246-255.e6.
    View in: PubMed
    Score: 0.003
  56. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31.
    View in: PubMed
    Score: 0.003
  57. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 01 15; 29(2):320-334.
    View in: PubMed
    Score: 0.003
  58. 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: 0.003
  59. 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: 0.003
  60. 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: 0.003
  61. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. 2019 12; 60(12):2428-2436.
    View in: PubMed
    Score: 0.003
  62. 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: 0.003
  63. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487.
    View in: PubMed
    Score: 0.003
  64. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 10; 40:101575.
    View in: PubMed
    Score: 0.003
  65. Hydrocephalus associated with glycogen storage disease type II (Pompe's disease). Pediatr Neurol. 1999 Sep; 21(3):674-6.
    View in: PubMed
    Score: 0.003
  66. 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: 0.003
  67. The association of angiopoietin-like peptide 4 levels with obesity and hepatosteatosis in adolescents. Cytokine. 2020 01; 125:154802.
    View in: PubMed
    Score: 0.003
  68. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. J Neuroimaging. 2019 11; 29(6):750-759.
    View in: PubMed
    Score: 0.003
  69. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex. Epilepsia. 2019 08; 60(8):1721-1732.
    View in: PubMed
    Score: 0.003
  70. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex. J Child Neurol. 2019 10; 34(12):770-777.
    View in: PubMed
    Score: 0.003
  71. 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: 0.003
  72. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421.
    View in: PubMed
    Score: 0.003
  73. 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: 0.003
  74. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. Am Psychol. 2019 04; 74(3):356-367.
    View in: PubMed
    Score: 0.002
  75. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63.
    View in: PubMed
    Score: 0.002
  76. Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition. Magn Reson Med. 2019 05; 81(5):3314-3329.
    View in: PubMed
    Score: 0.002
  77. Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms. J Child Neurol. 2019 01; 34(1):17-21.
    View in: PubMed
    Score: 0.002
  78. Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. Pediatr Neurol. 2019 01; 90:24-30.
    View in: PubMed
    Score: 0.002
  79. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. Neurology. 2018 11 20; 91(21):974-976.
    View in: PubMed
    Score: 0.002
  80. 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: 0.002
  81. 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: 0.002
  82. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43.
    View in: PubMed
    Score: 0.002
  83. The mouse as a model for neuropsychiatric drug development. Curr Biol. 2018 09 10; 28(17):R909-R914.
    View in: PubMed
    Score: 0.002
  84. Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram. Annu Int Conf IEEE Eng Med Biol Soc. 2018 Jul; 2018:3116-3119.
    View in: PubMed
    Score: 0.002
  85. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. J Child Neurol. 2018 07; 33(8):519-524.
    View in: PubMed
    Score: 0.002
  86. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. Pediatr Neurol. 2018 07; 84:32-38.
    View in: PubMed
    Score: 0.002
  87. 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: 0.002
  88. 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: 0.002
  89. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318.
    View in: PubMed
    Score: 0.002
  90. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. 2017 Dec; 140(6).
    View in: PubMed
    Score: 0.002
  91. Early autism symptoms in infants with tuberous sclerosis complex. Autism Res. 2017 Dec; 10(12):1981-1990.
    View in: PubMed
    Score: 0.002
  92. 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: 0.002
  93. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95.
    View in: PubMed
    Score: 0.002
  94. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5).
    View in: PubMed
    Score: 0.002
  95. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 05; 70(Pt A):245-252.
    View in: PubMed
    Score: 0.002
  96. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome. Pediatr Neurol. 2017 02; 67:59-63.
    View in: PubMed
    Score: 0.002
  97. Characterizing Multiscale Mechanical Properties of Brain Tissue Using Atomic Force Microscopy, Impact Indentation, and Rheometry. J Vis Exp. 2016 09 06; (115).
    View in: PubMed
    Score: 0.002
  98. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016 Aug 23; 87(8):766-72.
    View in: PubMed
    Score: 0.002
  99. 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: 0.002
  100. Direct current stimulation induces mGluR5-dependent neocortical plasticity. Ann Neurol. 2016 08; 80(2):233-46.
    View in: PubMed
    Score: 0.002
  101. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr Neurol. 2016 05; 58:12-24.
    View in: PubMed
    Score: 0.002
  102. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016 Mar; 19(3):517-22.
    View in: PubMed
    Score: 0.002
  103. 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: 0.002
  104. 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: 0.002
  105. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 03; 85(18):1536-45.
    View in: PubMed
    Score: 0.002
  106. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan; 54:29-34.
    View in: PubMed
    Score: 0.002
  107. Characterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND). Magn Reson Med. 2016 09; 76(3):963-77.
    View in: PubMed
    Score: 0.002
  108. Comparison of therapeutic characteristics of islet cell transplantation simultaneous with pancreatic mesenchymal stem cell transplantation in rats with Type 1 diabetes mellitus. Stem Cell Rev Rep. 2015 Jun; 11(3):526-32.
    View in: PubMed
    Score: 0.002
  109. 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: 0.002
  110. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48.
    View in: PubMed
    Score: 0.002
  111. Altered Structural Brain Networks in Tuberous Sclerosis Complex. Cereb Cortex. 2016 May; 26(5):2046-58.
    View in: PubMed
    Score: 0.002
  112. 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: 0.002
  113. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan; 52(1):25-35.
    View in: PubMed
    Score: 0.002
  114. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43.
    View in: PubMed
    Score: 0.002
  115. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.
    View in: PubMed
    Score: 0.002
  116. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology. 2014 Jul 08; 83(2):160-8.
    View in: PubMed
    Score: 0.002
  117. RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity. J Clin Invest. 2014 Jun; 124(6):2774-84.
    View in: PubMed
    Score: 0.002
  118. 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: 0.002
  119. A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. Nat Cell Biol. 2013 Oct; 15(10):1186-96.
    View in: PubMed
    Score: 0.002
  120. 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: 0.002
  121. A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. Pediatr Neurol. 2013 Feb; 48(2):105-10.
    View in: PubMed
    Score: 0.002
  122. Atypical face processing in children with tuberous sclerosis complex. J Child Neurol. 2013 Dec; 28(12):1569-76.
    View in: PubMed
    Score: 0.002
  123. 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: 0.002
  124. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50.
    View in: PubMed
    Score: 0.002
  125. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cereb Cortex. 2013 Jul; 23(7):1526-32.
    View in: PubMed
    Score: 0.002
  126. Endothelial cell-fatty acid binding protein 4 promotes angiogenesis: role of stem cell factor/c-kit pathway. Angiogenesis. 2012 Sep; 15(3):457-68.
    View in: PubMed
    Score: 0.002
  127. 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: 0.001
  128. 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: 0.001
  129. 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: 0.001
  130. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30.
    View in: PubMed
    Score: 0.001
  131. Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia. 2011 Nov; 52(11):1956-65.
    View in: PubMed
    Score: 0.001
  132. SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress. Cell Mol Neurobiol. 2011 May; 31(4):541-50.
    View in: PubMed
    Score: 0.001
  133. MicroRNA profiling reveals two distinct p53-related human pluripotent stem cell states. Cell Stem Cell. 2010 Dec 03; 7(6):671-81.
    View in: PubMed
    Score: 0.001
  134. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Mol Psychiatry. 2012 Jan; 17(1):62-70.
    View in: PubMed
    Score: 0.001
  135. EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell. 2010 Oct 29; 143(3):442-55.
    View in: PubMed
    Score: 0.001
  136. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS. Proc Natl Acad Sci U S A. 2010 Mar 02; 107(9):4153-8.
    View in: PubMed
    Score: 0.001
  137. Diffusion features of white matter in tuberous sclerosis with tractography. Pediatr Neurol. 2010 Feb; 42(2):101-6.
    View in: PubMed
    Score: 0.001
  138. Maximum a posteriori estimation of isotropic high-resolution volumetric MRI from orthogonal thick-slice scans. Med Image Comput Comput Assist Interv. 2010; 13(Pt 2):109-16.
    View in: PubMed
    Score: 0.001
  139. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5.
    View in: PubMed
    Score: 0.001
  140. Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. Neurobiol Dis. 2009 Oct; 36(1):60-9.
    View in: PubMed
    Score: 0.001
  141. Tuberous sclerosis complex proteins control axon formation. Genes Dev. 2008 Sep 15; 22(18):2485-95.
    View in: PubMed
    Score: 0.001
  142. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 08; 321(5890):839-43.
    View in: PubMed
    Score: 0.001
  143. Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. Mol Cell. 2008 Mar 14; 29(5):541-51.
    View in: PubMed
    Score: 0.001
  144. Clinical and surgical profile and follow up of patients with liver hydatid cyst from an endemic region. J Gastrointestin Liver Dis. 2008 Mar; 17(1):33-7.
    View in: PubMed
    Score: 0.001
  145. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008 May; 23(5):520-5.
    View in: PubMed
    Score: 0.001
  146. Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. Int J Cardiol. 2009 Feb 06; 132(1):145-7.
    View in: PubMed
    Score: 0.001
  147. 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: 0.001
  148. Cdk5 regulates EphA4-mediated dendritic spine retraction through an ephexin1-dependent mechanism. Nat Neurosci. 2007 Jan; 10(1):67-76.
    View in: PubMed
    Score: 0.001
  149. S6K1 regulates GSK3 under conditions of mTOR-dependent feedback inhibition of Akt. Mol Cell. 2006 Oct 20; 24(2):185-97.
    View in: PubMed
    Score: 0.001
  150. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. . 2006 Aug 01; 140(15):1692-5.
    View in: PubMed
    Score: 0.001
  151. 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: 0.001
  152. Antiepileptic drug-induced visual hallucinations in a child. Pediatr Neurol. 2000 Nov; 23(5):439-41.
    View in: PubMed
    Score: 0.001
  153. Kzf1 - a novel KRAB zinc finger protein encoding gene expressed during rat spermatogenesis. Biochim Biophys Acta. 1998 Jul 09; 1398(3):321-9.
    View in: PubMed
    Score: 0.001
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.