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 Female.
Connection Strength

0.361
  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: 0.015
  2. 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: 0.014
  3. 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: 0.013
  4. 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: 0.012
  5. 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: 0.012
  6. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30.
    View in: PubMed
    Score: 0.011
  7. 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: 0.011
  8. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. Pediatr Neurol. 2015 Aug; 53(2):103-4.
    View in: PubMed
    Score: 0.010
  9. 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: 0.010
  10. Parkinson's disease: A disorder of axonal mitophagy? Mov Disord. 2014 Nov; 29(13):1582.
    View in: PubMed
    Score: 0.010
  11. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013 Jan 30; 66(1-2):53-7.
    View in: PubMed
    Score: 0.009
  12. 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: 0.009
  13. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50.
    View in: PubMed
    Score: 0.008
  14. Clinical presentation and diagnosis of tuberous sclerosis complex in infancy. J Child Neurol. 2008 Mar; 23(3):268-73.
    View in: PubMed
    Score: 0.006
  15. Neonatal subependymal giant cell astrocytoma: new case and review of literature. Pediatr Neurol. 2007 Feb; 36(2):128-31.
    View in: PubMed
    Score: 0.006
  16. Prolonged treatment for acute symptomatic refractory status epilepticus: outcome in children. Neurology. 2003 Aug 12; 61(3):398-401.
    View in: PubMed
    Score: 0.005
  17. Outcome of severe refractory status epilepticus in children. Epilepsia. 2001 Nov; 42(11):1461-7.
    View in: PubMed
    Score: 0.004
  18. Prolonged treatment of refractory status epilepticus in a child. J Child Neurol. 2001 Feb; 16(2):147-50.
    View in: PubMed
    Score: 0.004
  19. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. Ann Neurol. 2021 04; 89(4):726-739.
    View in: PubMed
    Score: 0.004
  20. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
    View in: PubMed
    Score: 0.004
  21. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376.
    View in: PubMed
    Score: 0.004
  22. 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: 0.004
  23. 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: 0.004
  24. 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: 0.004
  25. 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: 0.004
  26. 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: 0.004
  27. 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: 0.004
  28. 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: 0.004
  29. 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: 0.004
  30. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. 2019 12; 60(12):2428-2436.
    View in: PubMed
    Score: 0.004
  31. 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: 0.004
  32. 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
  33. 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
  34. 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
  35. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. J Neuroimaging. 2019 11; 29(6):750-759.
    View in: PubMed
    Score: 0.003
  36. 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
  37. 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
  38. 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
  39. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63.
    View in: PubMed
    Score: 0.003
  40. 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: 0.003
  41. Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. Pediatr Neurol. 2019 01; 90:24-30.
    View in: PubMed
    Score: 0.003
  42. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. Neurology. 2018 11 20; 91(21):974-976.
    View in: PubMed
    Score: 0.003
  43. 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: 0.003
  44. 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: 0.003
  45. 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: 0.003
  46. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. J Child Neurol. 2018 07; 33(8):519-524.
    View in: PubMed
    Score: 0.003
  47. 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: 0.003
  48. 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: 0.003
  49. 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: 0.003
  50. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018 03; 111:91-101.
    View in: PubMed
    Score: 0.003
  51. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318.
    View in: PubMed
    Score: 0.003
  52. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. 2017 Dec; 140(6).
    View in: PubMed
    Score: 0.003
  53. Early autism symptoms in infants with tuberous sclerosis complex. Autism Res. 2017 Dec; 10(12):1981-1990.
    View in: PubMed
    Score: 0.003
  54. 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: 0.003
  55. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95.
    View in: PubMed
    Score: 0.003
  56. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5).
    View in: PubMed
    Score: 0.003
  57. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 05; 70(Pt A):245-252.
    View in: PubMed
    Score: 0.003
  58. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016 Aug 23; 87(8):766-72.
    View in: PubMed
    Score: 0.003
  59. 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: 0.003
  60. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 03; 85(18):1536-45.
    View in: PubMed
    Score: 0.003
  61. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan; 54:29-34.
    View in: PubMed
    Score: 0.003
  62. 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: 0.003
  63. 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: 0.003
  64. Altered Structural Brain Networks in Tuberous Sclerosis Complex. Cereb Cortex. 2016 May; 26(5):2046-58.
    View in: PubMed
    Score: 0.003
  65. 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: 0.003
  66. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.
    View in: PubMed
    Score: 0.002
  67. 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
  68. EphA7 signaling guides cortical dendritic development and spine maturation. Proc Natl Acad Sci U S A. 2014 Apr 01; 111(13):4994-9.
    View in: PubMed
    Score: 0.002
  69. 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
  70. 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
  71. Atypical face processing in children with tuberous sclerosis complex. J Child Neurol. 2013 Dec; 28(12):1569-76.
    View in: PubMed
    Score: 0.002
  72. 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
  73. 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
  74. Location of nicotinic and muscarinic cholinergic and mu-opiate receptors in rat cerebral neocortex: evidence from thalamic and cortical lesions. Brain Res. 1992 May 01; 579(1):135-47.
    View in: PubMed
    Score: 0.002
  75. 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: 0.002
  76. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30.
    View in: PubMed
    Score: 0.002
  77. 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: 0.002
  78. 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: 0.002
  79. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5.
    View in: PubMed
    Score: 0.002
  80. 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: 0.002
  81. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 08; 321(5890):839-43.
    View in: PubMed
    Score: 0.002
  82. 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: 0.002
  83. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008 May; 23(5):520-5.
    View in: PubMed
    Score: 0.002
  84. Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. Int J Cardiol. 2009 Feb 06; 132(1):145-7.
    View in: PubMed
    Score: 0.002
  85. 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: 0.001
  86. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. . 2006 Aug 01; 140(15):1692-5.
    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.