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 Child, Preschool.
Connection Strength

0.621
  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: 0.045
  2. 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: 0.038
  3. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30.
    View in: PubMed
    Score: 0.032
  4. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013 Jan 30; 66(1-2):53-7.
    View in: PubMed
    Score: 0.027
  5. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50.
    View in: PubMed
    Score: 0.025
  6. 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: 0.021
  7. Prolonged treatment for acute symptomatic refractory status epilepticus: outcome in children. Neurology. 2003 Aug 12; 61(3):398-401.
    View in: PubMed
    Score: 0.014
  8. Outcome of severe refractory status epilepticus in children. Epilepsia. 2001 Nov; 42(11):1461-7.
    View in: PubMed
    Score: 0.012
  9. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. Ann Neurol. 2021 04; 89(4):726-739.
    View in: PubMed
    Score: 0.012
  10. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
    View in: PubMed
    Score: 0.011
  11. 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: 0.011
  12. 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: 0.011
  13. 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: 0.011
  14. 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: 0.011
  15. 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: 0.011
  16. 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: 0.011
  17. 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: 0.011
  18. 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: 0.011
  19. 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: 0.010
  20. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. J Neuroimaging. 2019 11; 29(6):750-759.
    View in: PubMed
    Score: 0.010
  21. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex. J Child Neurol. 2019 10; 34(12):770-777.
    View in: PubMed
    Score: 0.010
  22. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63.
    View in: PubMed
    Score: 0.010
  23. Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition. Magn Reson Med. 2019 05; 81(5):3314-3329.
    View in: PubMed
    Score: 0.010
  24. 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: 0.010
  25. Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. Pediatr Neurol. 2019 01; 90:24-30.
    View in: PubMed
    Score: 0.010
  26. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. Neurology. 2018 11 20; 91(21):974-976.
    View in: PubMed
    Score: 0.010
  27. 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: 0.010
  28. 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: 0.010
  29. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. J Child Neurol. 2018 07; 33(8):519-524.
    View in: PubMed
    Score: 0.010
  30. 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: 0.010
  31. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318.
    View in: PubMed
    Score: 0.009
  32. Early autism symptoms in infants with tuberous sclerosis complex. Autism Res. 2017 Dec; 10(12):1981-1990.
    View in: PubMed
    Score: 0.009
  33. 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: 0.009
  34. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95.
    View in: PubMed
    Score: 0.009
  35. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 05; 70(Pt A):245-252.
    View in: PubMed
    Score: 0.009
  36. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016 Aug 23; 87(8):766-72.
    View in: PubMed
    Score: 0.008
  37. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 03; 85(18):1536-45.
    View in: PubMed
    Score: 0.008
  38. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan; 54:29-34.
    View in: PubMed
    Score: 0.008
  39. Altered Structural Brain Networks in Tuberous Sclerosis Complex. Cereb Cortex. 2016 May; 26(5):2046-58.
    View in: PubMed
    Score: 0.008
  40. 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: 0.008
  41. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan; 52(1):25-35.
    View in: PubMed
    Score: 0.008
  42. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology. 2014 Jul 08; 83(2):160-8.
    View in: PubMed
    Score: 0.007
  43. 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: 0.007
  44. A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. Pediatr Neurol. 2013 Feb; 48(2):105-10.
    View in: PubMed
    Score: 0.007
  45. Atypical face processing in children with tuberous sclerosis complex. J Child Neurol. 2013 Dec; 28(12):1569-76.
    View in: PubMed
    Score: 0.007
  46. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cereb Cortex. 2013 Jul; 23(7):1526-32.
    View in: PubMed
    Score: 0.006
  47. 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: 0.006
  48. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30.
    View in: PubMed
    Score: 0.006
  49. 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: 0.006
  50. Diffusion features of white matter in tuberous sclerosis with tractography. Pediatr Neurol. 2010 Feb; 42(2):101-6.
    View in: PubMed
    Score: 0.005
  51. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5.
    View in: PubMed
    Score: 0.005
  52. 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: 0.005
  53. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008 May; 23(5):520-5.
    View in: PubMed
    Score: 0.005
  54. Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. Int J Cardiol. 2009 Feb 06; 132(1):145-7.
    View in: PubMed
    Score: 0.005
  55. 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: 0.005
  56. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. . 2006 Aug 01; 140(15):1692-5.
    View in: PubMed
    Score: 0.004
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.