All Stories

  1. Early Vocal Development in TSC Predicts Language, But Not Autism Outcomes

    Article • Pediatric Neurology, February 2026, Elsevier

    Dr Mustafa Sahin

  2. Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures

    Article • Pediatric Neurology, October 2025, Elsevier

    Dr Mustafa Sahin

  3. Neurodevelopmental Outcomes from the PREVeNT Trial

    Article • Pediatric Neurology, September 2025, Elsevier

    Dr Mustafa Sahin

  4. Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study

    Article • Journal of Child Neurology, July 2025, SAGE Publications

    Dr Mustafa Sahin

  5. Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking

    Article • February 2025, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  6. Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders

    Article • Current Opinion in Neurobiology, February 2025, Elsevier

    Dr Mustafa Sahin

  7. Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome

    Article • Human Molecular Genetics, January 2025, Oxford University Press (OUP)

    Dr Mustafa Sahin

  8. A Hybrid 2D‐to‐3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs

    Article • Current Protocols, October 2024, Wiley

    Dr Mustafa Sahin

  9. Drug Resistant Epilepsy in Tuberous Sclerosis Complex is Associated with TSC2 Genotype: More Findings from the PREVeNT Trial

    Article • Pediatric Neurology, July 2024, Elsevier

    Dr Mustafa Sahin

  10. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

    Article • Nature Medicine, June 2024, Springer Science + Business Media

    Dr Mustafa Sahin

  11. Human TSC2 Mutant Cells Exhibit Aberrations in Early Neurodevelopment Accompanied by Changes in the DNA Methylome

    Article • June 2024, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  12. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

    Article • Journal of Inherited Metabolic Disease, April 2024, Wiley

    Dr Mustafa Sahin

  13. The role of TSC1 and TSC2 proteins in neuronal axons

    Article • Molecular Psychiatry, January 2024, Springer Science + Business Media

    Dr Mustafa Sahin

  14. A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

    Article • Therapeutic Advances in Rare Disease, January 2024, SAGE Publications

    Dr Mustafa Sahin

  15. Rescue of Impaired Blood-Brain Barrier in Tuberous Sclerosis Complex Patient Derived Neurovascular Unit

    Article • December 2023, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  16. Non-canonical functions of a mutant TSC2 protein in mitotic division

    Article • PLOS One, October 2023, PLOS

    Dr Mustafa Sahin

  17. Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial

    Article • Annals of Neurology, September 2023, Wiley

    Dr Mustafa Sahin

  18. Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex

    Article • Cell Reports, August 2023, Elsevier

    Dr Mustafa Sahin

  19. Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

    Article • Journal of Clinical Investigation, March 2023, American Society for Clinical Investigation

    Dr Mustafa Sahin

  20. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

    Article • Human Genetics and Genomics Advances, January 2023, Elsevier

    Dr Mustafa Sahin

  21. Non-Canonical Functions of a Mutant TSC2 Protein in Mitotic Division

    Article • December 2022, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  22. GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

    Article • Molecular Therapy — Methods & Clinical Development, December 2022, Elsevier

    Dr Mustafa Sahin

  23. Tubers affecting the fusiform face area are associated with autism diagnosis

    Article • Annals of Neurology, November 2022, Wiley

    Dr Alexander L Cohen, Dr Mustafa Sahin

  24. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

    Article • Brain, October 2022, Oxford University Press (OUP)

    Dr Mustafa Sahin

  25. Direct-to-Consumer Recruitment Methods for Clinical Trials for Rare Diseases: A Novel Approach for Testing the Application of Targeted Social Media Messaging to Aid in Accrual Into Research Studies (Preprint)

    Article • May 2022, JMIR Publications Inc.

    Dr Mustafa Sahin

  26. Direct-to-Consumer Recruitment Methods for Clinical Trials for Rare Diseases: A Novel Approach for Testing the Application of Targeted Social Media Messaging to Aid in Accrual Into Research Studies (Preprint)

    Article • Journal of Medical Internet Research, May 2022, JMIR Publications Inc.

    Dr Mustafa Sahin

  27. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

    Article • Annals of Clinical and Translational Neurology, March 2022, Wiley

    Dr Mustafa Sahin

  28. AP-4-mediated axonal transport controls endocannabinoid production in neurons

    Article • Nature Communications, February 2022, Springer Science + Business Media

    Dr Mustafa Sahin

  29. Single-cell dissection of the human brain vasculature

    Article • Nature, February 2022, Springer Science + Business Media

    Dr Mustafa Sahin

  30. Convergent Cerebrospinal Fluid Proteomes and Metabolic Ontologies in Humans and Animal Models of Rett Syndrome

    Article • December 2021, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  31. Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels

    Article • Arteriosclerosis Thrombosis and Vascular Biology, October 2021, Wolters Kluwer Health

    Dr Mustafa Sahin

  32. Enhanced prime editing systems by manipulating cellular determinants of editing outcomes

    Article • Cell, October 2021, Elsevier

    Dr Mustafa Sahin

  33. Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex

    Article • Pediatric Neurology, October 2021, Elsevier

    Dr Mustafa Sahin

  34. Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder

    Article • Neuroscience Research, October 2021, Elsevier

    Dr Mustafa Sahin

  35. Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

    Article • eLife, July 2021, eLife

    Dr Mustafa Sahin

  36. Factors influencing the acute pentylenetetrazole‐induced seizure paradigm and a literature review

    Article • Annals of Clinical and Translational Neurology, June 2021, Wiley

    Dr Mustafa Sahin

  37. Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders

    Article • Stem Cell Reports, June 2021, Elsevier

    Dr Mustafa Sahin

  38. 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

    Article • Nature Communications, May 2021, Springer Science + Business Media

    Dr Mustafa Sahin

  39. Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)

    Article • Stem Cell Research, May 2021, Elsevier

    Dr Mustafa Sahin

  40. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

    Article • Stem Cell Research, May 2021, Elsevier

    Dr Mustafa Sahin

  41. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

    Article • Molecular Autism, April 2021, Springer Science + Business Media

    Dr Mustafa Sahin

  42. Single-cell dissection of the human cerebrovasculature in health and disease

    Article • April 2021, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  43. Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

    Article • March 2021, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  44. A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

    Article • Contemporary Clinical Trials Communications, March 2021, Elsevier

    Dr Mustafa Sahin

  45. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

    Article • Journal of Autism and Developmental Disorders, February 2021, Springer Science + Business Media

    Dr Mustafa Sahin

  46. Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress

    Article • Autism Research, February 2021, Wiley

    Dr Mustafa Sahin

  47. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

    Article • Molecular Autism, January 2021, Springer Science + Business Media

    Dr Mustafa Sahin

  48. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network

    Article • Annals of Neurology, January 2021, Wiley

    Dr Alexander L Cohen, Dr Mustafa Sahin

  49. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Article • Autophagy, January 2021, Taylor & Francis

    MD, PhD Pierre-Louis Tharaux, Joilson O. Martins, Dr. rer. nat. Marc Herb, Dr Marcia R Cominetti, Alessio Di Fonzo, Christoph Gerhardt, Dr Mustafa Sahin, Dr Cinzia Volonté, Dr Marc Etienne Poirot, Professor Paula I. Moreira, Executive Director, The Hormel Institute Robert Clarke, Prof Robert Bryson-Richardson, Professor Hyun Kyu Song, Prof Claudia Cavadas, Professor Po Sing Leung, Paula Ludovico, Javeed Shah, Prof. Dr. Giovanni Di Guardo, Dr Takeshi Noda, Professor Tullio Florio, Professor Kevin Coombs, Ning Chen, Maria Vaccaro, Dr Jorge F Quarleri, Professor hengyi xiao, Dr. Yanzhuang Wang, Prof Giacinto Bagetta, Dr. Ann M Wehman, Dr Pawan Sharma, Dr Anna Krasnodembskaya, Dr Francesca Finetti, Nicoletta Filigheddu, Professor Javier González-Gallego, Professor Günther Weindl, Professor Nektarios Tavernarakis

  50. Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort

    Article • Journal of Autism and Developmental Disorders, January 2021, Springer Science + Business Media

    Dr Mustafa Sahin

  51. Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

    Article • Genetics in Medicine, December 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  52. A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons

    Article • STAR Protocols, December 2020, Elsevier

    Dr Mustafa Sahin

  53. Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex

    Article • Pediatric Neurology, December 2020, Elsevier

    Dr Mustafa Sahin

  54. Editorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders

    Article • Frontiers in Integrative Neuroscience, November 2020, Frontiers

    Dr Mustafa Sahin

  55. Tuberous sclerosis: a review of the past, present, and future

    Article • TURKISH JOURNAL OF MEDICAL SCIENCES, November 2020, The Scientific and Technological Research Council of Turkey

    Dr Mustafa Sahin

  56. The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities

    Article • American Journal of Psychiatry, November 2020, American Psychiatric Association

    Dr Mustafa Sahin

  57. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Article • Nature Communications, October 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  58. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

    Article • Modern Pathology, October 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  59. Polymicrogyria is Associated With Pathogenic Variants in PTEN

    Article • Annals of Neurology, October 2020, Wiley

    Dr Mustafa Sahin

  60. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Article • Nature Communications, October 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  61. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Article • Brain, September 2020, Oxford University Press (OUP)

    Dr Mustafa Sahin

  62. Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex

    Article • Pediatric Neurology, August 2020, Elsevier

    Dr Jeffrey P Blount, Dr Mustafa Sahin

  63. Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

    Article • Genetics in Medicine, July 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  64. Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia

    Article • Cell Reports, June 2020, Elsevier

    Dr Mustafa Sahin

  65. Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome

    Article • Autism Research, May 2020, Wiley

    Dr Mustafa Sahin

  66. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

    Article • Scientific Reports, May 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  67. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

    Article • Pediatric Neurology, May 2020, Elsevier

    Dr Mustafa Sahin

  68. Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study

    Article • Pediatric Neurology, May 2020, Elsevier

    Dr Mustafa Sahin

  69. Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder?

    Article • Neuron, May 2020, Elsevier

    Dr Mustafa Sahin

  70. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex

    Article • PLOS One, April 2020, PLOS

    Dr Mustafa Sahin

  71. Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex

    Article • Frontiers in Integrative Neuroscience, April 2020, Frontiers

    Dr Mustafa Sahin

  72. Learning to Detect Brain Lesions from Noisy Annotations

    Article • April 2020, Institute of Electrical & Electronics Engineers (IEEE)

    Dr Mustafa Sahin

  73. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

    Article • Neuron, April 2020, Elsevier

    Dr Mustafa Sahin

  74. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

    Article • Annals of Clinical and Translational Neurology, March 2020, Wiley

    Maria Teresa Bassi, Dr Mustafa Sahin

  75. A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment

    Article • BMC Medical Research Methodology, March 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  76. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort

    Article • Journal of Autism and Developmental Disorders, February 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  77. Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex

    Article • Molecular Autism, February 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  78. Beliefs in vaccine as causes of autism among SPARK cohort caregivers

    Article • Vaccine, February 2020, Elsevier

    Dr Mustafa Sahin

  79. Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex

    Article • Epilepsy & Behavior, February 2020, Elsevier

    Dr Mustafa Sahin

  80. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

    Article • Human Molecular Genetics, January 2020, Oxford University Press (OUP)

    Dr Mustafa Sahin

  81. Lesion-Constrained Electrical Source Imaging

    Article • Journal of Clinical Neurophysiology, January 2020, Wolters Kluwer Health

    Dr Mustafa Sahin

  82. Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons

    Article • January 2020, Springer Science + Business Media

    Dr Mustafa Sahin

  83. The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

    Article • Cerebral Cortex, December 2019, Oxford University Press (OUP)

    Dr Mustafa Sahin

  84. EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex

    Article • Journal of Autism and Developmental Disorders, December 2019, Springer Science + Business Media

    Dr Mustafa Sahin

  85. Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder

    Article • Journal of Neurodevelopmental Disorders, December 2019, Springer Science + Business Media

    Dr Mustafa Sahin

  86. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study

    Article • Epilepsia, November 2019, Wiley

    Dr Mustafa Sahin

  87. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

    Article • Translational Psychiatry, October 2019, Springer Science + Business Media

    Dr Mustafa Sahin

  88. Biallelic mutations in TSC2 lead to abnormalities associated with cortical tubers in human iPSC-derived neurons

    Article • Journal of Neuroscience, October 2019, Society for Neuroscience

    Dr Mustafa Sahin

  89. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

    Article • Stem Cell Research, October 2019, Elsevier

    Dr Mustafa Sahin

  90. A framework for the investigation of rare genetic disorders in neuropsychiatry

    Article • Nature Medicine, September 2019, Springer Science + Business Media

    Dr Mustafa Sahin, Dr. Carrie E Bearden

  91. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

    Article • npj Genomic Medicine, August 2019, Springer Science + Business Media

    Dr Mustafa Sahin

  92. Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

    Article • Autism Research, August 2019, Wiley

    Dr Mustafa Sahin

  93. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study

    Article • Frontiers in Integrative Neuroscience, July 2019, Frontiers

    Dr Mustafa Sahin

  94. Resting‐State fMRI Networks in Children with Tuberous Sclerosis Complex

    Article • Journal of Neuroimaging, July 2019, Wiley

    Dr Mustafa Sahin

  95. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex

    Article • Epilepsia, July 2019, Wiley

    Dr Mustafa Sahin

  96. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex

    Article • Journal of Child Neurology, July 2019, SAGE Publications

    Dr Mustafa Sahin

  97. White matter mean diffusivity correlates with myelination in tuberous sclerosis complex

    Article • Annals of Clinical and Translational Neurology, June 2019, Wiley

    Dr Mustafa Sahin

  98. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

    Article • Genetics in Medicine, June 2019, Springer Science + Business Media

    Dr Mustafa Sahin

  99. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice

    Article • Human Molecular Genetics, June 2019, Oxford University Press (OUP)

    Dr Mustafa Sahin

  100. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

    Article • Genetics in Medicine, June 2019, Springer Science + Business Media

    Dr Mustafa Sahin

  101. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

    Article • Annual Review of Genomics and Human Genetics, April 2019, Annual Reviews

    Dr Mustafa Sahin

  102. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.

    Article • American Psychologist, April 2019, American Psychological Association (APA)

    Marian Williams, Dr Mustafa Sahin

  103. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

    Article • Pediatric Neurology, March 2019, Elsevier

    Dr Mustafa Sahin

  104. Probing Mechanical Properties of Brain in a Tuberous Sclerosis Model of Autism

    Article • Journal of Biomechanical Engineering, January 2019, ASME International

    Dr Mustafa Sahin

  105. Translational Medicine Strategies in Drug Development for Neurodevelopmental Disorders

    Article • January 2019, Elsevier

    Dr Mustafa Sahin

  106. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome

    Article • Pediatric Neurology, January 2019, Elsevier

    Dr Mustafa Sahin

  107. Discovering translational biomarkers in neurodevelopmental disorders

    Article • Nature Reviews Drug Discovery, December 2018, Springer Science + Business Media

    Dr Mustafa Sahin

  108. Electrographic spikes are common in wildtype mice

    Article • Epilepsy & Behavior, December 2018, Elsevier

    Dr Mustafa Sahin

  109. High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex

    Article • Epilepsy Research, December 2018, Elsevier

    Dr Mustafa Sahin

  110. Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition

    Article • Magnetic Resonance in Medicine, November 2018, Wiley

    Dr Mustafa Sahin

  111. Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms

    Article • Journal of Child Neurology, October 2018, SAGE Publications

    Dr Mustafa Sahin

  112. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex

    Article • Neurology, October 2018, Wolters Kluwer Health

    Dr Mustafa Sahin

  113. Longitudinal effects of everolimus on white matter diffusion in Tuberous Sclerosis Complex

    Article • Pediatric Neurology, October 2018, Elsevier

    Dr Mustafa Sahin

  114. Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors

    Article • Cell Reports, October 2018, Elsevier

    Dr Mustafa Sahin

  115. The mouse as a model for neuropsychiatric drug development

    Article • Current Biology, September 2018, Elsevier

    Dr Mustafa Sahin

  116. The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders

    Article • Clinical Pharmacology & Therapeutics, August 2018, Wiley

    Dr Mustafa Sahin

  117. A Unified Circuit for Social Behavior

    Article • August 2018, Elsevier

    Dr Mustafa Sahin

  118. Abnormal mTOR Activation in Autism

    Article • Annual Review of Neuroscience, July 2018, Annual Reviews

    Dr Mustafa Sahin

  119. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

    Article • Scientific Reports, July 2018, Springer Science + Business Media

    Dr Mustafa Sahin

  120. Recurrence quantification analysis of resting state EEG signals in autism spectrum disorder – a systematic methodological exploration of technical and demographic confounders in the search for biomarkers

    Article • BMC Medicine, July 2018, Springer Science + Business Media

    Dr Mustafa Sahin

  121. Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram

    Article • July 2018, Institute of Electrical & Electronics Engineers (IEEE)

    Dr Mustafa Sahin

  122. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome

    Article • Pediatric Neurology, July 2018, Elsevier

    Dr Mustafa Sahin

  123. Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex

    Article • Clinical Neurophysiology, July 2018, Elsevier

    Dr Mustafa Sahin

  124. mTOR’ing across the Cortex by Chopping the Cilia

    Article • Neuron, July 2018, Elsevier

    Dr Mustafa Sahin

  125. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

    Article • Scientific Reports, May 2018, Springer Science + Business Media

    Dr Mustafa Sahin

  126. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex

    Article • Journal of Child Neurology, April 2018, SAGE Publications

    Dr Mustafa Sahin

  127. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex

    Article • Neurology, March 2018, Wolters Kluwer Health

    Dr Mustafa Sahin

  128. A mouse model of DEPDC5 -related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

    Article • Neurobiology of Disease, March 2018, Elsevier

    Dr Mustafa Sahin

  129. Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

    Article • Molecular Psychiatry, February 2018, Nature

    Dr Mustafa Sahin

  130. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

    Article • Neuron, February 2018, Elsevier

    Dr Mustafa Sahin

  131. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome

    Article • Annals of Clinical and Translational Neurology, January 2018, Wiley

    Dr Mustafa Sahin

  132. mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex

    Article • Neuropsychopharmacology, December 2017, Springer Science + Business Media

    Dr Mustafa Sahin

  133. Clinical and genetic characterization of AP4B1 -associated SPG47

    Article • American Journal of Medical Genetics Part A, November 2017, Wiley

    Dr Mustafa Sahin

  134. Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex

    Article • Cerebral Cortex, November 2017, Oxford University Press (OUP)

    Dr Mustafa Sahin

  135. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

    Article • Annals of Clinical and Translational Neurology, November 2017, Wiley

    Dr Mustafa Sahin

  136. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

    Article • PEDIATRICS, November 2017, American Academy of Pediatrics (AAP)

    Dr Mustafa Sahin

  137. Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex

    Article • Pediatric Neurology, October 2017, Elsevier

    Dr Mustafa Sahin

  138. Early autism symptoms in infants with tuberous sclerosis complex

    Article • Autism Research, August 2017, Wiley

    Dr Mustafa Sahin

  139. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy

    Article • Cell Reports, July 2017, Elsevier

    Dr Mustafa Sahin

  140. Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine

    Article • July 2017, Institute of Electrical & Electronics Engineers (IEEE)

    Dr Mustafa Sahin

  141. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions

    Article • Journal of Neurodevelopmental Disorders, June 2017, Springer Science + Business Media

    Dr Mustafa Sahin

  142. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

    Article • Molecular Autism, June 2017, Springer Science + Business Media

    Dr Mustafa Sahin

  143. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

    Article • Pediatric Neurology, June 2017, Elsevier

    Dr Mustafa Sahin

  144. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant

    Article • Journal of Child Neurology, May 2017, SAGE Publications

    Dr Mustafa Sahin

  145. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis

    Article • Cancer Research, May 2017, American Association for Cancer Research (AACR)

    Dr Mustafa Sahin, William Oldham

  146. Influence of seizures on early development in tuberous sclerosis complex

    Article • Epilepsy & Behavior, May 2017, Elsevier

    Dr Mustafa Sahin

  147. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose

    Article • PEDIATRICS, April 2017, American Academy of Pediatrics (AAP)

    Dr Mustafa Sahin

  148. Translational use of event-related potentials to assess circuit integrity in ASD

    Article • Nature Reviews Neurology, February 2017, Nature

    Dr Mustafa Sahin

  149. Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

    Article • Journal of Experimental Medicine, February 2017, Rockefeller University Press

    Dr Mustafa Sahin

  150. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons

    Article • Autophagy, January 2017, Taylor & Francis

    Dr Mustafa Sahin

  151. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex

    Article • Cell Reports, November 2016, Elsevier

    Dr Mustafa Sahin

  152. Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge-Weber Syndrome

    Article • Pediatric Neurology, October 2016, Elsevier

    Dr Mustafa Sahin

  153. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

    Article • Cell Reports, October 2016, Elsevier

    Dr Mustafa Sahin

  154. The Pediatric Neurology Trainee Publication Award for 2015

    Article • Pediatric Neurology, October 2016, Elsevier

    Dr Mustafa Sahin

  155. Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A

    Article • Translational Psychiatry, September 2016, Nature

    Dr Mustafa Sahin

  156. Characterizing Multiscale Mechanical Properties of Brain Tissue Using Atomic Force Microscopy, Impact Indentation, and Rheometry

    Article • Journal of Visualized Experiments, September 2016, MyJove Corporation

    Dr Mustafa Sahin

  157. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

    Article • Neurology, July 2016, Wolters Kluwer Health

    Dr Mustafa Sahin

  158. Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers

    Article • Pediatric Dermatology, July 2016, Wiley

    Dr Mustafa Sahin

  159. Direct current stimulation induces mGluR5-dependent neocortical plasticity

    Article • Annals of Neurology, July 2016, Wiley

    Dr Mustafa Sahin, Alexander Rotenberg

  160. White and gray matter fiber pathways in autism spectrum disorder revealed by ex vivo diffusion MR tractography

    Article • Brain and Behavior, May 2016, Wiley

    Dr Mustafa Sahin

  161. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research

    Article • Pediatric Neurology, May 2016, Elsevier

    Dr Mustafa Sahin

  162. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings

    Article • Pediatric Neurology, May 2016, Elsevier

    Dr Mustafa Sahin

  163. Editorial: Essential Pathways and Circuits of Autism Pathogenesis

    Article • Frontiers in Neuroscience, April 2016, Frontiers

    Dr Mustafa Sahin

  164. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations from the 2015 Strategic Planning Conference

    Article • Pediatric Neurology, April 2016, Elsevier

    Dr Mustafa Sahin

  165. Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy

    Article • Human Molecular Genetics, March 2016, Oxford University Press (OUP)

    Dr Mustafa Sahin

  166. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome

    Article • F1000Research, March 2016, Faculty of 1000, Ltd.

    Dr Mustafa Sahin

  167. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

    Article • Nature Neuroscience, February 2016, Nature

    Dr Serkan Erdin, Dr Mustafa Sahin

  168. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

    Article • Pediatric Neurology, January 2016, Elsevier

    Dr Mustafa Sahin

  169. Neurological Comorbidities in Autism Spectrum Disorder

    Article • January 2016, Oxford University Press (OUP)

    Dr Mustafa Sahin

  170. Essential Pathways and Circuits of Autism Pathogenesis

    Article • January 2016

    Dr Mustafa Sahin

  171. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

    Article • Brain, December 2015, Oxford University Press (OUP)

    Dr Mustafa Sahin

  172. Disorders of Microtubule Function in Neurons: Imaging Correlates

    Article • American Journal of Neuroradiology, November 2015, American Society of Neuroradiology (ASNR)

    Dr Mustafa Sahin

  173. Super-resolution reconstruction in frequency, image, and wavelet domains to reduce through-plane partial voluming in MRI

    Article • Medical Physics, November 2015, Wiley

    Dr Mustafa Sahin

  174. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

    Article • PLoS Genetics, November 2015, PLOS

    Dr Mustafa Sahin

  175. Adopting Rare Diseases

    Article • Cell, November 2015, Elsevier

    Dr Mustafa Sahin

  176. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

    Article • Science, October 2015, American Association for the Advancement of Science

    Dr Mustafa Sahin

  177. Tubers are neither static nor discrete

    Article • Neurology, October 2015, Wolters Kluwer Health

    Dr Mustafa Sahin

  178. Characterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND)

    Article • Magnetic Resonance in Medicine, September 2015, Wiley

    Dr Mustafa Sahin

  179. TSC2 controls neuronal development through FOXO1 and mitochondrial function in Autism Spectrum Disorders patient derived human neurons

    Article • Mitochondrion, September 2015, Elsevier

    Dr Mustafa Sahin

  180. Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex

    Article • Journal of Child Neurology, August 2015, SAGE Publications

    Dr Mustafa Sahin

  181. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams

    Article • Pediatric Neurology, August 2015, Elsevier

    Dr Mustafa Sahin

  182. The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex

    Article • Journal of Neuroscience, July 2015, Society for Neuroscience

    Dr Mustafa Sahin

  183. Developing therapies for spinal muscular atrophy

    Article • Annals of the New York Academy of Sciences, July 2015, Wiley

    Dr Mustafa Sahin

  184. Cerebellar associative sensory learning defects in five mouse autism models

    Article • eLife, July 2015, eLife

    Dr Mustafa Sahin

  185. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders

    Article • Neurotherapeutics, June 2015, Springer Science + Business Media

    Dr Mustafa Sahin

  186. Tuberous Sclerosis Complex

    Article • Pediatric Clinics of North America, June 2015, Elsevier

    Dr Mustafa Sahin

  187. Longitudinal Changes in Diffusion Properties in White Matter Pathways of Children With Tuberous Sclerosis Complex

    Article • Pediatric Neurology, June 2015, Elsevier

    Dr Mustafa Sahin

  188. Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex

    Article • Journal of Child Neurology, May 2015, SAGE Publications

    Dr Mustafa Sahin

  189. Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism

    Article • Neurotherapeutics, May 2015, Springer Science + Business Media

    Dr Mustafa Sahin

  190. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation

    Article • Cell, May 2015, Elsevier

    Dr Mustafa Sahin

  191. Autism and the synapse

    Article • Current Opinion in Neurology, April 2015, Wolters Kluwer Health

    Dr Mustafa Sahin

  192. Vigabatrin can enhance electroretinographic responses in pigmented and albino rats

    Article • Documenta Ophthalmologica, March 2015, Springer Science + Business Media

    Dr Mustafa Sahin

  193. Altered Structural Brain Networks in Tuberous Sclerosis Complex

    Article • Cerebral Cortex, March 2015, Oxford University Press (OUP)

    Dr Mustafa Sahin

  194. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

    Article • Pediatric Neurology, January 2015, Elsevier

    Dr Mustafa Sahin

  195. Genetics of neurocutaneous disorders

    Article • January 2015, Elsevier

    Dr Mustafa Sahin

  196. A Vascular Model of Tsc1 Deficiency Accelerates Renal Tumor Formation with Accompanying Hemangiosarcomas

    Article • Molecular Cancer Research, December 2014, American Association for Cancer Research (AACR)

    Dr Mustafa Sahin

  197. Gene Therapy for Childhood Neurological Disease

    Article • Pediatric Neurology, November 2014, Elsevier

    Dr Mustafa Sahin

  198. The Neurology of mTOR

    Article • Neuron, October 2014, Elsevier

    Dr Mustafa Sahin

  199. Parkinson's disease: A disorder of axonal mitophagy?

    Article • Movement Disorders, September 2014, Wiley

    Dr Mustafa Sahin

  200. Somatic Mutations in Cerebral Cortical Malformations

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, August 2014, New England Journal of Medicine (NEJM/MMS)

    Dr Mustafa Sahin

  201. SMN regulates axonal local translation via miR-183/mTOR pathway

    Article • Human Molecular Genetics, July 2014, Oxford University Press (OUP)

    Dr Mustafa Sahin

  202. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex

    Article • Neurology, June 2014, Wolters Kluwer Health

    Dr Mustafa Sahin

  203. Copy number variation plays an important role in clinical epilepsy

    Article • Annals of Neurology, June 2014, Wiley

    Dr Mustafa Sahin

  204. RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity

    Article • Journal of Clinical Investigation, May 2014, American Society for Clinical Investigation

    Dr Mustafa Sahin

  205. Mechanism-Based Treatment in Tuberous Sclerosis Complex

    Article • Pediatric Neurology, April 2014, Elsevier

    Dr Mustafa Sahin

  206. Trust but Verify: The Introduction of Plagiarism Detection Software

    Article • Pediatric Neurology, April 2014, Elsevier

    Dr Mustafa Sahin

  207. EphA7 signaling guides cortical dendritic development and spine maturation

    Article • Proceedings of the National Academy of Sciences, March 2014, Proceedings of the National Academy of Sciences

    Dr Mustafa Sahin

  208. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1

    Article • Human Molecular Genetics, March 2014, Oxford University Press (OUP)

    Dr Mustafa Sahin

  209. A Mathematical Framework for the Registration and Analysis of Multi-Fascicle Models for Population Studies of the Brain Microstructure

    Article • IEEE Transactions on Medical Imaging, February 2014, Institute of Electrical & Electronics Engineers (IEEE)

    Dr Mustafa Sahin

  210. Autism Spectrum Disorders in Tuberous Sclerosis

    Article • January 2014, Springer Science + Business Media

    Dr Mustafa Sahin

  211. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis

    Article • Molecular Autism, January 2014, Springer Science + Business Media

    Dr Mustafa Sahin

  212. Both Maternal and Pup Genotype Influence Ultrasonic Vocalizations and Early Developmental Milestones inTsc2+/−Mice

    Article • Epilepsy Research and Treatment, January 2014, Hindawi Publishing Corporation

    Dr Mustafa Sahin

  213. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

    Article • Pediatric Neurology, October 2013, Elsevier

    Dr Mustafa Sahin

  214. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

    Article • Pediatric Neurology, October 2013, Elsevier

    Dr Mustafa Sahin

  215. Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions

    Article • Future Neurology, September 2013, Future Medicine

    Dr Mustafa Sahin

  216. A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS

    Article • Nature, August 2013, Nature

    Dr Mustafa Sahin

  217. The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models

    Article • Journal of Neuroscience, April 2013, Society for Neuroscience

    Dr Mustafa Sahin

  218. SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy

    Article • PLOS One, April 2013, PLOS

    Dr Mustafa Sahin

  219. Pediatric Neurocritical Care: A Neurology Consultation Model and Implication for Education and Training

    Article • Pediatric Neurology, March 2013, Elsevier

    Dr Mustafa Sahin

  220. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity

    Article • BMC Medicine, February 2013, Springer Science + Business Media

    Dr Mustafa Sahin

  221. A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex

    Article • Pediatric Neurology, February 2013, Elsevier

    Dr Mustafa Sahin

  222. Fragile X Syndrome Therapeutics: Translation, Meet Translational Medicine

    Article • Neuron, January 2013, Elsevier

    Dr Mustafa Sahin

  223. Characterizing the DIstribution of Anisotropic MicrO-structural eNvironments with Diffusion-Weighted Imaging (DIAMOND)

    Article • January 2013, Springer Science + Business Media

    Dr Mustafa Sahin

  224. Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice

    Article • Behavior Genetics, December 2012, Springer Science + Business Media

    Dr Mustafa Sahin

  225. Atypical Face Processing in Children With Tuberous Sclerosis Complex

    Article • Journal of Child Neurology, November 2012, SAGE Publications

    Dr Mustafa Sahin

  226. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream

    Article • Current Opinion in Neurobiology, October 2012, Elsevier

    Dr Mustafa Sahin

  227. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

    Article • Nature, July 2012, Nature

    Dr Mustafa Sahin

  228. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features

    Article • Human Molecular Genetics, June 2012, Oxford University Press (OUP)

    Dr Mustafa Sahin

  229. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

    Article • Epilepsia, June 2012, Wiley

    Dr Mustafa Sahin

  230. Impaired Language Pathways in Tuberous Sclerosis Complex Patients with Autism Spectrum Disorders

    Article • Cerebral Cortex, June 2012, Oxford University Press (OUP)

    Dr Mustafa Sahin

  231. Endothelial cell-fatty acid binding protein 4 promotes angiogenesis: role of stem cell factor/c-kit pathway

    Article • Angiogenesis, May 2012, Springer Science + Business Media

    Dr Mustafa Sahin

  232. Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

    Article • PLOS One, April 2012, PLOS

    Dr Mustafa Sahin

  233. Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

    Article • PLOS One, April 2012, PLOS

    Dr Mustafa Sahin

  234. Correction for Alexander et al., ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS

    Article • Proceedings of the National Academy of Sciences, April 2012, Proceedings of the National Academy of Sciences

    Dr Mustafa Sahin

  235. Erratum: Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice

    Article • Molecular Psychiatry, March 2012, Nature

    Dr Mustafa Sahin

  236. Micro-duplications of 1q32.1 associated with neurodevelopmental delay

    Article • European Journal of Medical Genetics, February 2012, Elsevier

    Dr Mustafa Sahin

  237. Loss of White Matter Microstructural Integrity Is Associated with Adverse Neurological Outcome in Tuberous Sclerosis Complex

    Article • Academic Radiology, January 2012, Elsevier

    Dr Mustafa Sahin

  238. Translational research

    Article • Current Opinion in Pediatrics, December 2011, Wolters Kluwer Health

    Dr Mustafa Sahin

  239. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

    Article • Proceedings of the National Academy of Sciences, October 2011, Proceedings of the National Academy of Sciences

    Dr Mustafa Sahin

  240. Febrile infection-related epilepsy syndrome (FIRES): Does duration of anesthesia affect outcome?

    Article • Epilepsia, October 2011, Wiley

    Dr Mustafa Sahin

  241. A Genetic Model to Dissect the Role of Tsc-mTORC1 in Neuronal Cultures

    Article • September 2011, Springer Science + Business Media

    Dr Mustafa Sahin

  242. NMDA Mediated Contextual Conditioning Changes miRNA Expression

    Article • PLOS One, September 2011, PLOS

    Dr Mustafa Sahin

  243. Pediatric epileptology

    Article • Epilepsy & Behavior, September 2011, Elsevier

    Dr Mustafa Sahin

  244. Febrile infection-related epilepsy syndrome (FIRES): Pathogenesis, treatment, and outcome

    Article • Epilepsia, August 2011, Wiley

    Dr Mustafa Sahin

  245. Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

    Article • Current Opinion in Neurology, April 2011, Wolters Kluwer Health

    Dr Mustafa Sahin

  246. TSC1/TSC2 signaling in the CNS

    Article • FEBS Letters, February 2011, Wiley

    Dr Mustafa Sahin

  247. SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress

    Article • Cellular and Molecular Neurobiology, January 2011, Springer Science + Business Media

    Dr Mustafa Sahin

  248. Neurocutaneous Syndromes

    Article • January 2011, Elsevier

    Dr Mustafa Sahin

  249. MicroRNA Profiling Reveals Two Distinct p53-Related Human Pluripotent Stem Cell States

    Article • Cell Stem Cell, December 2010, Elsevier

    Dr Mustafa Sahin

  250. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice

    Article • Molecular Psychiatry, November 2010, Nature

    Dr Mustafa Sahin

  251. EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation

    Article • Cell, October 2010, Elsevier

    Dr Mustafa Sahin

  252. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

    Article • Brain and Development, August 2010, Elsevier

    Dr Mustafa Sahin

  253. Eph receptor and mTOR pathway crosstalk: Implications for cancer

    Article • Cell Cycle, June 2010, Taylor & Francis

    Dr Mustafa Sahin

  254. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS

    Article • Proceedings of the National Academy of Sciences, February 2010, Proceedings of the National Academy of Sciences

    Dr Mustafa Sahin

  255. Diffusion Features of White Matter in Tuberous Sclerosis With Tractography

    Article • Pediatric Neurology, February 2010, Elsevier

    Dr Mustafa Sahin

  256. Tsc2-Rheb signaling regulates EphA-mediated axon guidance

    Article • Nature Neuroscience, January 2010, Nature

    Dr Mustafa Sahin

  257. Maximum A Posteriori Estimation of Isotropic High-Resolution Volumetric MRI from Orthogonal Thick-Slice Scans

    Article • January 2010, Springer Science + Business Media

    Dr Mustafa Sahin

  258. Murine Glut-1 transporter haploinsufficiency: Postnatal deceleration of brain weight and reactive astrocytosis

    Article • Neurobiology of Disease, October 2009, Elsevier

    Dr Mustafa Sahin

  259. Tuberous Sclerosis Complex Activity Is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner

    Article • Journal of Neuroscience, May 2009, Society for Neuroscience

    Dr Mustafa Sahin

  260. Cardiac Rhabdomyomas in Tuberous Sclerosis Complex Show Apoptosis Regulation and mTOR Pathway Abnormalities

    Article • Pediatric and Developmental Pathology, March 2009, Society for Pediatric Pathology (SPP)

    Dr Mustafa Sahin

  261. Cardiac rhabdomyoma in tuberous sclerosis: Hyperactive Erk signaling

    Article • International Journal of Cardiology, February 2009, Elsevier

    Professor Rafal Ploski, Dr Mustafa Sahin

  262. Promoting Axon Regeneration in the Adult CNS by Modulation of the PTEN/mTOR Pathway

    Article • Science, November 2008, American Association for the Advancement of Science

    Dr Mustafa Sahin

  263. Tuberous sclerosis complex proteins control axon formation

    Article • Genes & Development, September 2008, Cold Spring Harbor Laboratory Press

    Dr Mustafa Sahin

  264. Human CHN1 Mutations Hyperactivate  2-Chimaerin and Cause Duane's Retraction Syndrome

    Article • Science, August 2008, American Association for the Advancement of Science

    Dr Mustafa Sahin

  265. 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

    Article • Journal of Neuroscience, May 2008, Society for Neuroscience

    Dr Mustafa Sahin

  266. Loss of the Tuberous Sclerosis Complex Tumor Suppressors Triggers the Unfolded Protein Response to Regulate Insulin Signaling and Apoptosis

    Article • Molecular Cell, March 2008, Elsevier

    Dr Mustafa Sahin

  267. Characterization of Autism in Young Children With Tuberous Sclerosis Complex

    Article • Journal of Child Neurology, January 2008, SAGE Publications

    Dr Mustafa Sahin

  268. Clinical Presentation and Diagnosis of Tuberous Sclerosis Complex in Infancy

    Article • Journal of Child Neurology, January 2008, SAGE Publications

    Dr Mustafa Sahin

  269. A Mouse Model of Tuberous Sclerosis: Neuronal Loss of Tsc1 Causes Dysplastic and Ectopic Neurons, Reduced Myelination, Seizure Activity, and Limited Survival

    Article • Journal of Neuroscience, May 2007, Society for Neuroscience

    Dr Mustafa Sahin

  270. Tuberous Sclerosis Complex and Epilepsy: Recent Developments and Future Challenges

    Article • Epilepsia, April 2007, Wiley

    Dr Mustafa Sahin

  271. Neonatal Subependymal Giant Cell Astrocytoma: New Case and Review of Literature

    Article • Pediatric Neurology, February 2007, Elsevier

    Dr Mustafa Sahin

  272. Cdk5 regulates EphA4-mediated dendritic spine retraction through an ephexin1-dependent mechanism

    Article • Nature Neuroscience, December 2006, Nature

    Dr Mustafa Sahin, Dr Kwok-On Lai

  273. S6K1 Regulates GSK3 under Conditions of mTOR-Dependent Feedback Inhibition of Akt

    Article • Molecular Cell, October 2006, Elsevier

    Dr Mustafa Sahin

  274. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities

    Article • Pediatric and Developmental Pathology, January 2006, Society for Pediatric Pathology (SPP)

    Dr Mustafa Sahin

  275. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia

    Article • American Journal of Medical Genetics Part A, January 2006, Wiley

    Dr Mustafa Sahin

  276. Regulation of EphA4 Kinase Activity Is Required for a Subset of Axon Guidance Decisions Suggesting a Key Role for Receptor Clustering in Eph Function

    Article • Neuron, August 2005, Elsevier

    Dr Mustafa Sahin

  277. Eph-Dependent Tyrosine Phosphorylation of Ephexin1 Modulates Growth Cone Collapse

    Article • Neuron, April 2005, Elsevier

    Dr Mustafa Sahin

  278. Vav Family GEFs Link Activated Ephs to Endocytosis and Axon Guidance

    Article • Neuron, April 2005, Elsevier

    Dr Mustafa Sahin

  279. Focal seizure and cerebral contrast retention after cardiac catheterization

    Article • Pediatric Neurology, March 2005, Elsevier

    Dr Mustafa Sahin

  280. Prolonged treatment for acute symptomatic refractory status epilepticus

    Article • Neurology, August 2003, Wolters Kluwer Health

    Dr Mustafa Sahin

  281. Outcome of Severe Refractory Status Epilepticus in Children

    Article • Epilepsia, January 2002, Wiley

    Dr Mustafa Sahin

  282. EphA Receptors Regulate Growth Cone Dynamics through the Novel Guanine Nucleotide Exchange Factor Ephexin

    Article • Cell, April 2001, Elsevier

    Dr Mustafa Sahin

  283. Prolonged Treatment of Refractory Status Epilepticus in a Child

    Article • Journal of Child Neurology, February 2001, SAGE Publications

    Dr Mustafa Sahin

  284. Prolonged Treatment of Refractory Status Epilepticus in a Child

    Article • Journal of Child Neurology, January 2001, Decker, Inc.

    Dr Mustafa Sahin

  285. Antiepileptic drug-induced visual hallucinations in a child

    Article • Pediatric Neurology, November 2000, Elsevier

    Dr Mustafa Sahin

  286. Hydrocephalus associated with glycogen storage disease type II (pompe’s disease)

    Article • Pediatric Neurology, September 1999, Elsevier

    Dr Mustafa Sahin

  287. Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment.

    Article • Proceedings of the National Academy of Sciences, August 1995, Proceedings of the National Academy of Sciences

    Dr Mustafa Sahin

  288. Seven protein tyrosine phosphatases are differentially expressed in the developing rat brain

    Article • The Journal of Comparative Neurology, January 1995, Wiley

    Dr Mustafa Sahin

  289. Location of nicotinic and muscarinic cholinergic and μ-opiate receptors in rat cerebral neocortex: evidence from thalamic and cortical lesions

    Article • Brain Research, May 1992, Elsevier

    Dr Mustafa Sahin

  290. Molecular identification of the lugaro cell in the cat cerebellar cortex

    Article • The Journal of Comparative Neurology, November 1990, Wiley

    Dr Mustafa Sahin