Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

Darcy A Krueger, Anjali Sadhwani, Anna W Byars, Petrus J de Vries, David N Franz, Vicky H Whittemore, Rajna Filip-Dhima, Donna Murray, Kush Kapur, Mustafa Sahin

Ann Clin Transl Neurol

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

Christopher J Yuskaitis*, Brandon M Jones, Rachel L Wolfson, Chloe E Super, Sameer C Dhamne, Alexander Rotenberg, David M Sabatini, Mustafa Sahin, Annapurna Poduri

Neurobiol Dis.

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

Elyza Kelly, Samantha M Schaeffer, Sameer C Dhamne, Jonathan O Lipton*, Lothar Lindemann, Michael Honer, Georg Jaeschke, Chloe E Super, Stephen Ht Lammers, Meera E Modi*, Jill L Silverman, John R Dreier, David J Kwiatkowski, Alexander Rotenberg, Mustafa Sahin

Neuropsychopharmacology.

Clinical and genetic characterization of AP4B1-associated SPG47

Darius Ebrahimi-Fakhari *, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett; CureSPG47

Am J Med Genet A

Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

Peter E Davis*, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin; Tuberous Sclerosis Complex Autism Center of Excellence Research Network

Pediatrics

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

Heather M O’Leary, Juan Manuel Mayor, Chi-Sang Poon, Walter E Kaufmann, Mustafa Sahin

Annu Int Conf IEEE Eng Med Biol Soc.

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

Jamie K Capal, Paul S Horn, Donna S Murray, Anna Weber Byars, Nicole M Bing, Bridget Kent, Lindsey A Bucher, Marian E Williams, Sarah O’Kelley, Deborah A Pearson, Mustafa Sahin, Darcy A Krueger; TACERN Study Group

Pediatr Neurol.

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

Marisela E Dy, Jeff L Waugh, Nutan Sharma, Heather O’Leary, Kush Kapur, Alissa M D’Gama, Mustafa Sahin, David K Urion, Walter E Kaufmann

Pediatr Neurol.

Early autism symptoms in infants with tuberous sclerosis complex

Nicole M McDonald, Kandice J Varcin, Rujuta Bhatt, Joyce Y Wu, Mustafa Sahin, Charles A Nelson 3rd, Shafali S Jeste*

Autism Res.

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

Jonathan O Lipton*, Lara M Boyle, Elizabeth D Yuan, Kevin J Hochstrasser, Fortunate F Chifamba, Ashwin Nathan, Peter T Tsai, Fred Davis, Mustafa Sahin

Cell Rep.

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

Siddharth Srivastava*, Mustafa Sahin

J Neurodev Disord.

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

Sameer C Dhamne, Jill L Silverman, Chloe E Super, Stephen H T Lammers, Mustafa Q Hameed, Meera E Modi*, Nycole A Copping, Michael C Pride, Daniel G Smith, Alexander Rotenberg, Jacqueline N Crawley, Mustafa Sahin

Mol Autism.

Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose

Asya Agulnik, Daniel P Kelly, Rebecca Bruccoleri, Christopher Yuskaitis*, Darius Ebrahimi-Fakhari*, Mustafa Sahin, Michele M Burns, Daniel S Kohane

Pediatrics.

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

Siddharth Srivastava*, Cynthia S Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin

J Child Neurol.

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

Hilaire C Lam, Christian V Baglini, Alicia Llorente Lope, Andrey A Parkhitko, Heng-Jia Liu, Nicola Alesi, Izabela A Malinowska, Darius Ebrahimi-Fakhari*, Afshin Saffari, Jane J Yu, Ana Pereira, Damir Khabibullin, Barbara Ogorek, Julie Nijmeh, Taylor Kavanagh, Adam Handen, Stephen Y Chan, John M Asara, William M Oldham, Maria T Diaz-Meco, Jorge Moscat, Mustafa Sahin, Carmen Priolo, Elizabeth P Henske

Cancer Res.

Influence of seizures on early development in tuberous sclerosis complex

Jamie K Capal, Beatriz Bernardino-Cuesta, Paul S Horn, Donna Murray, Anna Weber Byars, Nicole M Bing, Bridget Kent, Deborah A Pearson, Mustafa Sahin, Darcy A Krueger; TACERN Study Group

Epilepsy Behav.

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

Meera E Modi*, Mustafa Sahin

Nat Rev Neurol.

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

Ebru Ercan*, Juliette M Han, Alessia Di Nardo*, Kellen Winden*, Min-Joon Han, Leonie Hoyo, Afshin Saffari, Andrew Leask, Daniel H Geschwind, Mustafa Sahin

J Exp Med.

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

Darius Ebrahimi-Fakhari*, Afshin Saffari, Lara Wahlster, Mustafa Sahin

Autophagy.

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

Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff

Pediatr Neurol.

Altered Structural Brain Networks in Tuberous Sclerosis Complex

Kiho Im, Banu Ahtam, Daniel Haehn, Jurriaan M Peters, Simon K Warfield, Mustafa Sahin, P Ellen Grant

Cereb Cortex.

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

Kandice J Varcin, Charles A Nelson 3rd, Jordan Ko, Mustafa Sahin, Joyce Y Wu, Shafali Spurling Jeste*

J Child Neurol.

Developing therapies for spinal muscular atrophy

Mary H Wertz*, Mustafa Sahin

Ann N Y Acad Sci.

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

Benoit Scherrer, Armin Schwartzman, Maxime Taquet, Mustafa Sahin, Sanjay P Prabhu, Simon K Warfield

Magn Reson Med.

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

Joyce Y Wu, Jurriaan M Peters, Monisha Goyal, Darcy Krueger, Mustafa Sahin, Hope Northrup, Kit Sing Au, Gary Cutter, E Martina Bebin

Pediatr Neurol.

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

Anna L Pinto, Liam Chen, Rachel Friedman, Patricia E Grant, Annapurna Poduri, Masanori Takeoka, Sanjay P Prabhu, Mustafa Sahin

Pediatr Neurol.

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

Darius Ebrahimi-Fakhari*, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F Hoffmann, Heinz Jungbluth, Mustafa Sahin

Brain.

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

Derek J C Tai, Ashok Ragavendran, Poornima Manavalan, Alexei Stortchevoi, Catarina M Seabra, Serkan Erdin, Ryan L Collins, Ian Blumenthal, Xiaoli Chen, Yiping Shen, Mustafa Sahin, Chengsheng Zhang, Charles Lee, James F Gusella, Michael E Talkowski

Nat Neurosci.

Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome

Anna Pinto, Mustafa Sahin, Phillip L Pearl

F1000Res.

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

Mustafa Sahin, Elizabeth P Henske, Brendan D Manning, Kevin C Ess, John J Bissler, Eric Klann, David J Kwiatkowski, Steven L Roberds, Alcino J Silva, Coryse St Hillaire-Clarke, Lisa R Young, Mark Zervas, Laura A Mamounas; Tuberous Sclerosis Complex Working Group to Update the Research Plan

Pediatr Neurol.

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

Anne M Comi, Mustafa Sahin, Adrienne Hammill, Emma H Kaplan, Csaba Juhász, Paula North, Karen L Ball, Alex V Levin, Bernard Cohen, Jill Morris, Warren Lo, E Steve Roach; 2015 Sturge-Weber Syndrome Research Workshop

Pediatr Neurol.

Direct current stimulation induces mGluR5-dependent neocortical plasticity

Yan Sun, Jonathan O Lipton*, Lara M Boyle, Joseph R Madsen, Marti C Goldenberg, Alvaro Pascual-Leone, Mustafa Sahin, Alexander Rotenberg

Ann Neurol.

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

Cary Crall, Molly Valle, Kush Kapur, Kira A Dies, Marilyn G Liang, Mustafa Sahin, Jennifer T Huang

Pediatr Dermatol.

Symptom profiles of autism spectrum disorder in tuberous sclerosis complex

Shafali S Jeste*, Kandice J Varcin, Gerhard S Hellemann, Amanda C Gulsrud, Rujuta Bhatt, Connie Kasari, Joyce Y Wu, Mustafa Sahin, Charles A Nelson 3rd

Neurology.

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

Elizabeth Peruski Canovic, Bo Qing, Aleksandar S Mijailovic, Anna Jagielska, Matthew J Whitfield, Elyza Kelly, Daria Turner, Mustafa Sahin, Krystyn J Van Vliet

J Vis Exp.

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

Darius Ebrahimi-Fakhari*, Afshin Saffari, Lara Wahlster, Alessia Di Nardo*, Daria Turner, Tommy L Lewis Jr, Christopher Conrad, Jonathan M Rothberg, Jonathan O Lipton*, Stefan Kölker, Georg F Hoffmann, Min-Joon Han, Franck Polleux, Mustafa Sahin

Cell Rep.

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

Mary H Wertz*, Kellen Winden*, Pierre Neveu, Shi-Yan Ng, Ebru Ercan*, Mustafa Sahin

Hum Mol Genet.

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

Darius Ebrahimi-Fakhari*, Afshin Saffari, Lara Wahlster, Alessia DiNardo*, Daria Turner, Tommy L Lewis Jr, Christopher Conrad, Jonathan M Rothberg, Jonathan O Lipton*, Stefan Kölker, Georg F Hoffmann, Min-Joon Han, Franck Polleux, Mustafa Sahin

Cell Rep.

The Pediatric Neurology Trainee Publication Award for 2015

Pedro Weisleder, Sidney M Gospe Jr, Yu-Tze Ng, Mustafa Sahin

Pediatr Neurol.

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

Ali Gholipour, Onur Afacan, Iman Aganj, Benoit Scherrer, Sanjay P Prabhu, Mustafa Sahin, Simon K Warfield

Med Phys.

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

Kira A Dies, Mustafa Sahin

Handb Clin Neurol.

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

Magdalena E Tyburczy, Kira A Dies, Jennifer Glass, Susana Camposano, Yvonne Chekaluk, Aaron R Thorner, Ling Lin, Darcy Krueger, David N Franz, Elizabeth A Thiele, Mustafa Sahin, David J Kwiatkowski

PLoS Genet.

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

Mustafa Sahin, Mriganka Sur

Science.

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

Jurriaan M Peters, Anna K Prohl, Xavier K Tomas-Fernandez, Maxime Taquet, Benoit Scherrer, Sanjay P Prabhu, Hart G Lidov, Jolene M Singh, Floor E Jansen, Kees P J Braun, Mustafa Sahin, Simon K Warfield, Aymeric Stamm

Neurology.

Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex

Maria Sundberg*, Mustafa Sahin

J Child Neurol.

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

Duyu Nie*, Zehua Chen, Darius Ebrahimi-Fakhari*, Alessia Di Nardo*, Kristina Julich, Victoria K Robson, Yung-Chih Cheng, Clifford J Woolf, Myriam Heiman, Mustafa Sahin

J Neurosci.

Cerebellar associative sensory learning defects in five mouse autism models

Alexander D Kloth, Aleksandra Badura, Amy Li, Adriana Cherskov, Sara G Connolly, Andrea Giovannucci, M Ali Bangash, Giorgio Grasselli, Olga Peñagarikano, Claire Piochon, Peter T Tsai*, Daniel H Geschwind, Christian Hansel, Mustafa Sahin, Toru Takumi, Paul F Worley, Samuel S-H Wang

Elife.

Therapeutic Advances in Autism and Other Neurodevelopmental Disorders

Jeffrey L Neul, Mustafa Sahin

Neurotherapeutics.

Tuberous sclerosis complex

Francis J DiMario Jr, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Pediatr Clin North Am.

Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism

Peter E Davis*, Jurriaan M Peters, Darcy A Krueger, Mustafa Sahin

Neurotherapeutics.

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

Jonathan O Lipton*, Elizabeth D Yuan, Lara M Boyle, Darius Ebrahimi-Fakhari*, Erica Kwiatkowski, Ashwin Nathan, Thomas Güttler, Fred Davis, John M Asara, Mustafa Sahin

Cell.

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

Fiona M Baumer, Jae W Song, Paul D Mitchell, Rudolph Pienaar, Mustafa Sahin, P Ellen Grant, Emi Takahashi

Pediatr Neurol.

Vigabatrin can enhance electroretinographic responses in pigmented and albino rats

James D Akula, Emily R Noonan, Alessia Di Nardo*, Tara L Favazza, Nan Zhang, Mustafa Sahin, Ronald M Hansen, Anne B Fulton

Doc Ophthalmol.

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

Darius Ebrahimi-Fakhari*, Mustafa Sahin

Curr Opin Neurol.

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

Jarrett D Leech  Stephen H T Lammers,  Sam Goldman, Neil Auricchio, Roderick T Bronson, David J Kwiatkowski, Mustafa Sahin 

Mol Cancer Res.

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

Petrus J de Vries, Vicky H Whittemore, Loren Leclezio, Anna W Byars, David Dunn, Kevin C Ess, Dena Hook, Bryan H King, Mustafa Sahin, Anna Jansen

Pdeiatr Neurol.

Gene therapy for childhood neurological disease

Mustafa Sahin

Pediatr Neurol.

The neurology of mTOR

Jonathan O Lipton*, Mustafa Sahin

Neuron.

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

Emily A Greene-Colozzi, Abbey R Sadowski, Elyza Chadwick, Peter T Tsai*, Mustafa Sahin

Epilepsy Res Treat.

Somatic mutations in cerebral cortical malformations

Saumya S Jamuar, Anh-Thu N Lam, Martin Kircher, Alissa M D’Gama, Jian Wang, Brenda J Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E Scheffer, Samuel F Berkovic, Richard J Leventer, Yiping Shen, Bai Lin Wu, A James Barkovich, Mustafa Sahin, Bernard S Chang, Michael Bamshad, Deborah A Nickerson, Jay Shendure, Annapurna Poduri, Timothy W Yu, Christopher A Walsh

N Engl J Med.

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

Min Jeong Kye*, Emily D Niederst *, Mary H Wertz*, Inês do Carmo G Gonçalves, Bikem Akten*, Katarzyna Z Dover, Miriam Peters, Markus Riessland, Pierre Neveu, Brunhilde Wirth, Kenneth S Kosik, S Pablo Sardi, Umrao R Monani, Marco A Passini, Mustafa Sahin

Hum Mol Genet.

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

Shafali Spurling Jeste*, Joyce Y Wu, Damla Senturk, Kandice Varcin, Jordan Ko, Brigid McCarthy, Christina Shimizu, Kira Dies, Vanessa Vogel-Farley, Mustafa Sahin, Charles A Nelson 3rd

Neurology.

RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity

Jun Kawasaki, Sandrine Aegerter, R Dawn Fevurly, Akiko Mammoto, Tadanori Mammoto, Mustafa Sahin, John D Mably, Steven J Fishman, Joanne Chan

J Clin Invest.

Copy number variation plays an important role in clinical epilepsy

Heather Olson, Yiping Shen, Jennifer Avallone, Beth R Sheidley, Rebecca Pinsky, Ann M Bergin, Gerard T Berry, Frank H Duffy, Yaman Eksioglu, David J Harris, Fuki M Hisama, Eugenia Ho, Mira Irons, Christina M Jacobsen, Philip James, Sanjeev Kothare, Omar Khwaja, Jonathan Lipton*, Tobias Loddenkemper, Jennifer Markowitz, Kiran Maski, J Thomas Megerian, Edward Neilan, Peter C Raffalli, Michael Robbins, Amy Roberts, Eugene Roe, Caitlin Rollins, Mustafa Sahin, Dean Sarco, Alison Schonwald, Sharon E Smith, Janet Soul, Joan M Stoler, Masanori Takeoka, Wen-Han Tan, Alcy R Torres, Peter Tsai*, David K Urion, Laura Weissman, Robert Wolff, Bai-Lin Wu, David T Miller, Annapurna Poduri

Ann Neurol.

EphA7 signaling guides cortical dendritic development and spine maturation

Meredith A Clifford, Wardah Athar, Carrie E Leonard, Alexandra Russo, Paul J Sampognaro, Marie-Sophie Van der Goes, Denver A Burton, Xiumei Zhao, Rupa R Lalchandani, Mustafa Sahin, Stefano Vicini, Maria J Donoghue

Proc Natl Acad Sci U S A.

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

Alessia Di Nardo*, Mary H Wertz*, Erica Kwiatkowski, Peter T Tsai*, Jarrett D Leech, Emily Greene-Colozzi, June Goto, Pelin Dilsiz, Delia M Talos, Clary B Clish, David J Kwiatkowski, Mustafa Sahin

Hum Mol Genet.

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

Sek Won Kong, Mustafa Sahin, Christin D Collins, Mary H Wertz*, Malcolm G Campbell, Jarrett D Leech, Dilja Krueger, Mark F Bear, Louis M Kunkel, Isaac S Kohane

Mol Autism.

Mechanism-based treatment in tuberous sclerosis complex

Kristina Jülich, Mustafa Sahin

Pediatr Neurol.

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

Maxime Taquet, Benoit Scherrer, Olivier Commowick, Jurriaan M Peters, Mustafa Sahin, Benoit Macq, Simon K Warfield

IEEE Trans Med Imaging.

Characterizing the distribution of anisotropic micro-structural environments with diffusion-weighted imaging (DIAMOND)

Benoit Scherrer, Armin Schwartzman, Maxime Taquet, Sanjay P Prabhu, Mustafa Sahin, Alireza Akhondi-Asl, Simon K Warfield

Med Image Comput Assist Interv.

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

Jurriaan M Peters, Maxime Taquet, Anna K Prohl, Benoit Scherrer, Agnies M van Eeghen, Sanjay P Prabhu, Mustafa Sahin, Simon K Warfield

Future Neurol.

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

Darcy A Krueger, Hope Northrup; International Tuberous Sclerosis Complex Consensus Group (Includes Mustafa Sahin)

Pediatr Neurol.

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference

Hope Northrup, Darcy A Krueger; International Tuberous Sclerosis Complex Consensus Group (Includes Mustafa Sahin)

Pediatr Neurol.

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

Jiangwei Zhang, Jinhee Kim, Angela Alexander, Shengli Cai, Durga Nand Tripathi, Ruhee Dere, Andrew R Tee, Jacqueline Tait-Mulder, Alessia Di Nardo*, Juliette M Han*, Erica Kwiatkowski, Elaine A Dunlop, Kayleigh M Dodd, Rebecca D Folkerth, Phyllis L Faust, Michael B Kastan, Mustafa Sahin, Cheryl Lyn Walker

Nat Cell Biol.

Sturge-Weber syndrome: clinical and radiological correlates in 86 patients

András Fogarasi, Tobias Loddenkemper, Cecilia Mellado, Ingrid Tuxhorn, Georg Evers, Dean Sarco, Richard C Burgess, Péter Halász, Péter Barsis, Zsuzsanna Gyorsok, Csilla Gyimesi, Jeno Kóbor, Zsuzsanna Siegler, József Janszky, Rita Jakus, György Rásonyi, Alois Ebner, Friedrich G Woermann, Mustafa Sahin

Ideggyogy Sz.

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

Maria Dimitriadi, Min Jeong Kye*, Geetika Kalloo, Jill M Yersak, Mustafa Sahin, Anne C Hart

J Neurosci.

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

Jurriaan M Peters, Maxime Taquet, Clemente Vega, Shafali S Jeste*, Iván Sánchez Fernández, Jacqueline Tan, Charles A Nelson 3rd, Mustafa Sahin, Simon K Warfield

BMC Med.

Pediatric neurocritical care: a neurology consultation model and implication for education and training

Kerri L LaRovere, Robert J Graham, Robert C Tasker; Pediatric Critical Nervous System Program (pCNSp): Robert Tasker, Michael McManus, Meredith van der Velden, Robert Graham, Kerri LaRovere, Janet Soul, David Urion, Mark Libenson, Michael Rivkin, Basil Darras, Mustafa Sahin, Jeffrey Burns, John Arnold, Monica Kleinman, Daniel Kohane, Thomas Mancuso, Nilesh Mehta, Robert Pascucci, Gregory Priebe, Adrienne Randolph, Robert Truog, Sally Vitali, Peter Weinstock, Gerhard Wolf, Christopher Weldon, R Michael Scott, Richard Robertson

Pediatr Neurol.

Fragile X syndrome therapeutics: translation, meet translational medicine

Jonathan Lipton*, Mustafa Sahin

Neuron.

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

Neil I Weisenfeld, Jurriaan M Peters, Peter T Tsai*, Sanjay P Prabhu, Kira A Dies, Mustafa Sahin, Simon K Warfield

Pediatr Neurol.

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

Peter T Tsai*, Emily Greene-Colozzi, June Goto, Stefanie Anderl, David J Kwiatkowski, Mustafa Sahin

Behav Genet.

Atypical face processing in children with tuberous sclerosis complex

Shafali Spurling Jeste*, Suzanna Hirsch, Vanessa Vogel-Farley, Amanda Norona, Mary-Clare Navalta, Matt C Gregas, Sanjay P Prabhu, Mustafa Sahin, Charles A Nelson

J Child Neurol.

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

William W Lewis, Mustafa Sahin, Benoit Scherrer, Jurriaan M Peters, Ralph O Suarez, Vanessa K Vogel-Farley, Shafali S Jeste*, Matthew C Gregas, Sanjay P Prabhu, Charles A Nelson 3rd, Simon K Warfield

Cereb Cortex.

Registration and analysis of white matter group differences with a multi-fiber model

Maxime Taquet, Benoit Scherrer, Olivier Commowick, Jurriaan Peters, Mustafa Sahin, Benoît Macq, Simon K Warfield

Med Image Comput Assist Interv.

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

Peter T Tsai*, Court Hull, YunXiang Chu, Emily Greene-Colozzi, Abbey R Sadowski, Jarrett M Leech, Jason Steinberg, Jacqueline N Crawley, Wade G Regehr, Mustafa Sahin

Nature.

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

Elizabeth Yuan, Peter T Tsai*, Emily Greene-Colozzi, Mustafa Sahin, David J Kwiatkowski, Izabela A Malinowska

Hum Mol Genet.

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

Annapurna Poduri, Sameer S Chopra, Edward G Neilan, P Christina Elhosary, Manju A Kurian, Esther Meyer, Brenda J Barry, Omar S Khwaja, Mustafa A M Salih, Tommy Stödberg, Ingrid E Scheffer, Eamonn R Maher, Mustafa Sahin, Bai-Lin Wu, Gerard T Berry, Christopher A Walsh, Jonathan Picker, Sanjeev V Kothare

Epilepsia.

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

Mustafa Sahin

Curr Opin Neurobiol.

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

Jurriaan M Peters, Mustafa Sahin, Vanessa K Vogel-Farley, Shafali S Jeste*, Charles A Nelson 3rd, Matthew C Gregas, Sanjay P Prabhu, Benoit Scherrer, Simon K Warfield

Acad Radiol.

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

Duyu Nie*, Mustafa Sahin

Methods Mol Biol.

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

Uri Kramer, Ching-Shiang Chi, Kuang-Lin Lin, Nicola Specchio, Mustafa Sahin, Heather Olson, Gerhard Kluger, Andreas van Baalen

Epilepsia.

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

June Goto, Delia M Talos, Peter Klein, Wei Qin, Yvonne I Chekaluk, Stefanie Anderl, Izabela A Malinowska, Alessia Di Nardo*, Roderick T Bronson, Jennifer A Chan, Harry V Vinters, Steven G Kernie, Frances E Jensen, Mustafa Sahin, David J Kwiatkowski

Proc Natl Acad Sci U S A.

Translational research: Rett syndrome and tuberous sclerosis complex

Omar S Khwaja, Mustafa Sahin

Curr Opin Pediatr.

NMDA mediated contextual conditioning changes miRNA expression

Min Jeong Kye* , Pierre Neveu, Yong-Seok Lee, Miou Zhou, Judith A Steen, Mustafa Sahin, Kenneth S Kosik, Alcino J Silva

PLoS One.

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

Uri Kramer, Ching-Shiang Chi, Kuang-Lin Lin, Nicola Specchio, Mustafa Sahin, Heather Olson, Rima Nabbout, Gerhard Kluger, Jainn-Jim Lin, Andreas van Baalen

Epilepsia.

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits

Bikem Akten*, Min Jeong Kye*, Le T Hao, Mary H Wertz*, Sasha Singh, Duyu Nie*, Jia Huang, Tanuja T Merianda, Jeffery L Twiss, Christine E Beattie, Judith A J Steen, Mustafa Sahin

Proc Natl Acad Sci U S A.

Pediatric epileptology

Mustafa Sahin, Ian Miller, Gregory L Holmes, Raj D Sheth

Epilepsy Behav.

TSC1/TSC2 signaling in the CNS

Juliette M Han*, Mustafa Sahin

FEBS Lett.

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

Peter Tsai*, Mustafa Sahin

Curr Opin Neurol.

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

Tie Zou, Xianming Yang, Danmin Pan, Jia Huang, Mustafa Sahin, Jianhua Zhou

Cell Mol Neurobiol.

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

Pierre Neveu, Min Jeong Kye*, Shuping Qi, David E Buchholz, Dennis O Clegg, Mustafa Sahin, In-Hyun Park, Kwang-Soo Kim, George Q Daley, Harley I Kornblum, Boris I Shraiman, Kenneth S Kosik

Cell Stem Cell.

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

Seth S Margolis, John Salogiannis, David M Lipton, Caleigh Mandel-Brehm, Zachary P Wills, Alan R Mardinly, Linda Hu, Paul L Greer, Jay B Bikoff, Hsin-Yi Henry Ho, Michael J Soskis, Mustafa Sahin, Michael E Greenberg

Cell.

Maximum a posteriori estimation of isotropic high-resolution volumetric MRI from orthogonal thick-slice scans

Ali Gholipour, Judy A Estroff, Mustafa Sahin, Sanjay P Prabhu, Simon K Warfield

Med Image Comput Comput Assist Interv.

Eph receptor and mTOR pathway crosstalk: implications for cancer

Mustafa Sahin

Cell Cycle.

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Michael S L Ching , Yiping Shen, Wen-Hann Tan, Shafali S Jeste*, Eric M Morrow, Xiaoli Chen, Nahit M Mukaddes, Seung-Yun Yoo, Ellen Hanson, Rachel Hundley, Christina Austin, Ronald E Becker, Gerard T Berry, Katherine Driscoll, Elizabeth C Engle, Sandra Friedman, James F Gusella, Fuki M Hisama, Mira B Irons, Tina Lafiosca, Elaine LeClair, David T Miller, Michael Neessen, Jonathan D Picker, Leonard Rappaport, Cynthia M Rooney, Dean P Sarco, Joan M Stoler, Christopher A Walsh, Robert R Wolff, Ting Zhang, Ramzi H Nasir, Bai-Lin Wu; Children’s Hospital Boston Genotype Phenotype Study Group (includes Mustafa Sahin)

Am J Med Genet B Neurophychiatr Genet.

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

Angela Alexander, Sheng-Li Cai, Jinhee Kim, Adrian Nanez, Mustafa Sahin, Kirsteen H MacLean, Ken Inoki, Kun-Liang Guan, Jianjun Shen, Maria D Person, Donna Kusewitt, Gordon B Mills, Michael B Kastan, Cheryl Lyn Walker

Proc Natl Acad Sci U S A.

Diffusion features of white matter in tuberous sclerosis with tractography

Michelle L Krishnan, Olivier Commowick, Shafali S Jeste*, Neil Weisenfeld, Arne Hans, Matthew C Gregas, Mustafa Sahin, Simon K Warfield

Pediatr Neurol.

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

Duyu Nie*, Alessia Di Nardo*, Juliette M Han*, Hasani Baharanyi*, Ioannis Kramvis, Thanhthao Huynh, Sandra Dabora, Simone Codeluppi, Pier Paolo Pandolfi, Elena B Pasquale, Mustafa Sahin

Nat Neurosci.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

Annapurna Poduri, Vida Chitsazzadeh, Stefano D’Arrigo, Ermellina Fedrizzi, Chiara Pantaleoni, Daria Riva, Claudia Busse, Helmut Küster, Adre Duplessis, John Gaitanis, Mustafa Sahin, Cheryl Garganta, Meral Topcu, Kira A Dies, Brenda J Barry, Jennifer Partlow, A James Barkovich, Christopher A Walsh, Bernard S Chang

Brain Dev.

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

Paivi M Ullner, Alessia Di Nardo*, James E Goldman, Scott Schobel, Hong Yang, Kristin Engelstad, Dong Wang, Mustafa Sahin, Darryl C De Vivo

Neurobiol Dis.

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

Alessia Di Nardo*, Ioannis Kramvis, Namjik Cho, Abbey Sadowski, Lynsey Meikle, David J Kwiatkowski, Mustafa Sahin

J Neurosci.

Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling

Jaroslaw Jozwiak, Mustafa Sahin, Sergiusz Jozwiak, Katarzyna Kotulska, Rafal Ploski, Malgorzata Szperl, Pawel K Wlodarski

Int J Cardiol.

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

Katarzyna Kotulska, Magdalena Larysz-Brysz, Wieslława Grajkowska, Jarosław Jóźwiak, Paweł Włodarski, Mustafa Sahin, Joanna Lewin-Kowalik, Dorota Domańska-Pakieła, Sergiusz Jóźwiak

Pediatr Dev Pathol.

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

Kevin Kyungsuk Park, Kai Liu, Yang Hu, Patrice D Smith, Chen Wang, Bin Cai, Bengang Xu, Lauren Connolly, Ioannis Kramvis, Mustafa Sahin, Zhigang He

Science.

Tuberous sclerosis complex proteins control axon formation

Yong-Jin Choi, Alessia Di Nardo*, Ioannis Kramvis, Lynsey Meikle, David J Kwiatkowski, Mustafa Sahin, Xi He

Genes Dev.

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

Noriko Miyake, John Chilton, Maria Psatha, Long Cheng, Caroline Andrews, Wai-Man Chan, Krystal Law, Moira Crosier, Susan Lindsay, Michelle Cheung, James Allen, Nick J Gutowski, Sian Ellard, Elizabeth Young, Alessandro Iannaccone, Binoy Appukuttan, J Timothy Stout, Stephen Christiansen, Maria Laura Ciccarelli, Alfonso Baldi, Mara Campioni, Juan C Zenteno, Dominic Davenport, Laura E Mariani, Mustafa Sahin, Sarah Guthrie, Elizabeth C Engle

Science.

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

Lynsey Meikle, Kristen Pollizzi, Anna Egnor, Ioannis Kramvis, Heidi Lane, Mustafa Sahin, David J Kwiatkowski

J Neurosci.

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

Umut Ozcan, Lale Ozcan, Erkan Yilmaz, Katrin Düvel, Mustafa Sahin, Brendan D Manning, Gökhan S Hotamisligil

Mol Cell.

Clinical presentation and diagnosis of tuberous sclerosis complex in infancy

Anita N Datta, Cecil D Hahn, Mustafa Sahin

J Child Neurol.

Characterization of autism in young children with tuberous sclerosis complex

Shafali S Jeste*, Mustafa Sahin, Patrick Bolton, George B Ploubidis, Ayla Humphrey

J Child Neurol.

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

Lynsey Meikle, Delia M Talos, Hiroaki Onda, Kristen Pollizzi, Alexander Rotenberg, Mustafa Sahin, Frances E Jensen, David J Kwiatkowski

J Neurosci.

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

G Praveen Raju, David K Urion, Mustafa Sahin

Pediatr Neurol.

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

Wing-Yu Fu, Yu Chen, Mustafa Sahin, Xiao-Su Zhao, Lei Shi, Jay B Bikoff, Kwok-On Lai, Wing-Ho Yung, Amy K Y Fu, Michael E Greenberg, Nancy Y Ip

Nat Neurosci.

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

Hui H Zhang, Alex I Lipovsky, Christian C Dibble, Mustafa Sahin, Brendan D Manning

Mol Cell.

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia

Jason Neal, Kira Apse, Mustafa Sahin, Christopher A Walsh, Volney L Sheen

Am J Med Genet A.

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

Joaquim Egea, Ulla Vig Nissen, Audrey Dufour, Mustafa Sahin, Paul Greer, Klas Kullander, Thomas D Mrsic-Flogel, Michael E Greenberg, Ole Kiehn, Pierre Vanderhaeghen, Rüdiger Klein

Neuron.

Vav family GEFs link activated Ephs to endocytosis and axon guidance

Christopher W Cowan, Yu Raymond Shao, Mustafa Sahin, Steven M Shamah, Michael Z Lin, Paul L Greer, Sizhen Gao, Eric C Griffith, Joan S Brugge, Michael E Greenberg

Neuron.

Eph-dependent tyrosine phosphorylation of ephexin1 modulates growth cone collapse

Mustafa Sahin, Paul L Greer, Michael Z Lin, Heather Poucher, Johann Eberhart, Susanne Schmidt, Tracy M Wright, Steven M Shamah, Sinead O’connell, Christopher W Cowan, Linda Hu, Jeffrey L Goldberg, Anne Debant, Gabriel Corfas, Catherine E Krull, Michael E Greenberg

Neuron.

Focal seizure and cerebral contrast retention after cardiac catheterization

Richard E Frye, Jane W Newburger, Alan Nugent, Mustafa Sahin

Pediatr Neurol.