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List of works by Mustafa Sahin

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

scientific article published on 18 May 2021

A framework for the investigation of rare genetic disorders in neuropsychiatry

scientific article published on 23 September 2019

A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures

scientific article published in January 2012

A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex

scientific article published on February 2013

A mathematical framework for the registration and analysis of multi-fascicle models for population studies of the brain microstructure.

scientific article

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

scientific article published on 20 December 2017

A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival

scientific journal article

A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo

scientific article published on 11 November 2021

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

scientific article published on 18 August 2013

A unified circuit for social behavior

A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas

scientific article published on 29 December 2014

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

scientific article published on 25 February 2022

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

scientific article

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

scientific article published on July 2017

Abnormal mTOR Activation in Autism.

scientific article published on 25 January 2018

Adopting Rare Diseases

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

scientific article published on 02 April 2016

Altered Structural Brain Networks in Tuberous Sclerosis Complex

scientific article published on 5 March 2015

Atypical face processing in children with tuberous sclerosis complex

scientific article published on 8 November 2012

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

scientific article published on 13 May 2020

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

scientific article published on 3 July 2018

Autism Spectrum Disorders in Tuberous Sclerosis

scholarly article published 2014

Autism and the synapse: emerging mechanisms and mechanism-based therapies

scientific article

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

scientific article

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

scientific article published on August 2012

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

scientific article published on 07 October 2019

Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice

scientific article

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

scientific article

Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling

scientific article published on 26 November 2007

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

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

scientific article published on 30 July 2007

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

scientific journal article

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

article

Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex

scientific article

Cerebellar associative sensory learning defects in five mouse autism models

scientific article published on 9 July 2015

Characterization of autism in young children with tuberous sclerosis complex

scientific article published on 26 December 2007

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

scientific article

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

scientific article published on 12 September 2015

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

scientific article published on 01 January 2013

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

scientific article published on 01 September 2019

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

scientific article published in July 2017

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

scientific article

Clinical and genetic characterization of AP4B1-associated SPG47.

scientific article published on 28 November 2017

Clinical presentation and diagnosis of tuberous sclerosis complex in infancy

scientific article

Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose.

scientific article published on May 2017

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

scientific article published on 29 December 2015

Copy number variation plays an important role in clinical epilepsy

scientific article published on 13 June 2014

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

scientific article published on 01 October 2018

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

scientific article published on 29 July 2020

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

scientific article published on 2 June 2017

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia

Developing therapies for spinal muscular atrophy

scientific article published on 14 July 2015

Diffusion features of white matter in tuberous sclerosis with tractography

scientific article

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

scientific article

Direct current stimulation induces mGluR5-dependent neocortical plasticity

scientific article

Disorders of Microtubule Function in Neurons: Imaging Correlates

scientific article published on 12 November 2015

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

scientific article published on 24 February 2014

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

scientific article published on 01 March 2020

Early autism symptoms in infants with tuberous sclerosis complex

scientific article

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

scientific article

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

scientific article published on 16 August 2019

Editorial: Essential Pathways and Circuits of Autism Pathogenesis

scientific article published on 26 April 2016

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

scientific article published on 19 July 2016

Electrographic spikes are common in wildtype mice

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

scientific article published on 5 May 2012

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.

scientific article published on February 2016

Eph receptor and mTOR pathway crosstalk: implications for cancer

scientific article published on June 2010

Eph-dependent tyrosine phosphorylation of ephexin1 modulates growth cone collapse

scientific journal article

EphA7 signaling guides cortical dendritic development and spine maturation

scientific article published on 18 March 2014

EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation

scientific article

Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome

scientific article

Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

scientific article published on 12 November 2017

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

scientific article

Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review

scientific article published on 08 June 2021

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

scientific article published in October 2011

Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children.

scientific article

Focal seizure and cerebral contrast retention after cardiac catheterization

scientific article published in March 2005

Fragile X syndrome therapeutics: translation, meet translational medicine

scientific article published in January 2013

Gene therapy for childhood neurological disease

scientific article published on 15 August 2014

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

scientific article published on 11 September 2019

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

scientific article

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

scientific article published on 24 April 2019

Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes

scientific article published on January 2015

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

scientific article published on November 16, 2010

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

scientific article published on June 29, 2012

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

scientific article published on 25 September 2021

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

scientific article

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

scientific article

Hydrocephalus associated with glycogen storage disease type II (Pompe's disease).

scientific article

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

scientific article published on 01 April 2019

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

scientific article published in November 2016

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

scientific article published on October 2016

Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders

scientific article published on June 2012

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

scientific article published on 25 May 2017

Influence of seizures on early development in tuberous sclerosis complex

scientific article published on 27 April 2017

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

scientific article

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

scientific article published in May 1992

Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex

article by Jurriaan M Peters et al published January 2019 in Pediatric Neurology

Longitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex

scientific article published on 16 February 2015

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

scientific article published on 25 March 2020

Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis

scientific article

Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex

scientific article

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

scientific article published on 04 June 2019

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

scientific article published on 01 January 2010

Mechanism-based treatment in tuberous sclerosis complex

scientific article

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

scientific article published on April 2011

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

scientific article published on 24 January 2022

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

scientific article published on 11 June 2019

MicroRNA profiling reveals two distinct p53-related human pluripotent stem cell states

scientific article published on December 2010

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

scientific article published on 5 November 2015

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

scientific article published on 16 November 2018

Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis

scientific article

NMDA mediated contextual conditioning changes miRNA expression

scientific article

Neonatal subependymal giant cell astrocytoma: new case and review of literature

scientific article

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

scientific article published on 08 October 2019

Neurocutaneous Syndromes

Neurological Comorbidities in Autism Spectrum Disorder

scholarly article published January 2016

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

scientific article published on 9 February 2017

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

scientific journal article

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.

scientific article published on 21 May 2018

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis

publication published on 16 March 2022

Parkinson's disease: A disorder of axonal mitophagy?

scientific article published on 25 September 2014

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

scientific article published on 28 April 2015

Pediatric epileptology

scientific article (publication date: September 2011)

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

scientific article

Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice

scientific article

Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

scientific article

Prolonged Treatment of Refractory Status Epilepticus in a Child

Prolonged treatment for acute symptomatic refractory status epilepticus: outcome in children.

scientific article published in August 2003

Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway

scientific article

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

scientific article published on 15 February 2018

RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity

scientific article

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

scientific article published on 19 February 2020

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

scientific article published on 24 October 2011

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

scientific article published in August 2005

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

scientific article

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

scientific article published on 17 July 2019

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

scientific article published on May 2008

Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex

scientific article published on 14 July 2019

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

scientific article published on 27 September 2016

S6K1 regulates GSK3 under conditions of mTOR-dependent feedback inhibition of Akt.

scientific article published on October 2006

SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress.

scientific article

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

scientific article

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

scientific article published on January 1995

Single-cell dissection of the human brain vasculature

scientific article

Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome

scientific article

Somatic mutations in cerebral cortical malformations

scientific article

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

scientific article

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

scientific article published on 13 October 2020

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

scientific article

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

scientific article published on 20 July 2016

TSC1/TSC2 signaling in the CNS.

scientific article published on 15 February 2011

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

scientific article published on 04 May 2012

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

scientific article published on 14 May 2015

The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex

scientific article published on 10 July 2019

The Pediatric Neurology Trainee Publication Award for 2015.

scientific article published on 16 July 2016

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

scientific article published in July 2015

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

scholarly article by Meera E Modi & Mustafa Sahin published October 2018 in Clinical Pharmacology & Therapeutics

The neurology of mTOR

scientific article

The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models

scientific article

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

scientific article

Therapeutic Advances in Autism and Other Neurodevelopmental Disorders

scientific article published on July 2015

Translational research: Rett syndrome and tuberous sclerosis complex

scientific article published on December 2011

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

scientific article published on 17 February 2017

Trust but Verify: The Introduction of Plagiarism Detection Software

scholarly article by E. Steve Roach et al published April 2014 in Pediatric Neurology

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

scientific article

Tuber locations associated with infantile spasms map to a common brain network

scientific article published on 07 January 2021

Tuberous Sclerosis Complex

Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism

scientific article published on July 2015

Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist

scientific article published on 16 October 2014

Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner

scientific article published on May 2009

Tuberous sclerosis complex proteins control axon formation

scientific journal article

Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging

scientific article

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

scientific article published on 25 January 2017

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

scientific article published on 27 June 2017

Vav family GEFs link activated Ephs to endocytosis and axon guidance

scientific article published in April 2005

Vigabatrin can enhance electroretinographic responses in pigmented and albino rats.

scientific article published on 12 March 2015

Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex

scientific article published in January 2018

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

scientific article

White matter mean diffusivity correlates with myelination in tuberous sclerosis complex

scientific article published on 23 June 2019

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

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

scientific article

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

scientific article published on 16 May 2017

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