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Submissions from 2013

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MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features, Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L. Schmidt, Christin D. Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice E. Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, and Simona Orcesi

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Developmental and psychiatric presentations of inherited metabolic disorders, Sinan Turnacioglu and Andrea L. Gropman

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Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy, Adeline Vanderver, Cas Simons, Johanna L. Schmidt, Phillip L. Pearl, Miriam Bloom, Bennett Lavenstein, David Miller, Sean M. Grimmond, and Ryan J. Taft

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More than hypomyelination in pol-III disorder, Adeline Vanderver, Davide Tonduti, Genevieve Bernard, Jinping Lai, Christopher Rossi, Giovanni Carosso, Martha Quezado, Kondi Wong, and Raphael Schiffmann

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Thirty years beyond discovery-Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism, Kara R. Vogel, Phillip L. Pearl, William H. Theodore, Robert J. McCarter, Cornelis Jakobs, and K. Michael Gibson

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A multi-disciplinary consensus statement concerning surgical approaches to low-grade, high-grade astrocytomas and diffuse intrinsic pontine gliomas in childhood (CPN Paris 2011) using the Delphi method, David A. Walker, JoFen Liu, Mark Kieran, Nada Jabado, Susan Picton, Roger J. Packer, and Christian St. Rose

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Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1, Karin S. Walsh, Jorge I. Velez, Peter G. Kardel, Daniel M. Imas, Maximilian Muenke, Roger J. Packer, Francisco X. Castellanos, and Maria T. Acosta

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Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood-brain barrier, Daren Wang, Salim S. El-Amouri, Mei Dai, Chia-Yi Kuan, David Y. Hui, Roscoe O. Brady, and Dao Pan

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Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones, Chunzhang Yang, Shervin Rahimpour, Jie Lu, Karel Pacak, Barbara Ikejiri, Roscoe O. Brady, and Zhengping Zhuang

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Metabolic causes of epileptic encephalopathy, Joe Yuezhou Yu and Phillip L. Pearl

Submissions from 2012

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Cognitive profiles of neurofibromatosis type 1 patients with minor brain malformations, Maria T. Acosta, Karin S. Walsh, Peter G. Kardel, Rachel E. Kuttreruf, Rujuta R. Bhatt, Tara C. Bouton, Gilbert Vezina, and Roger J. Packer

Cognitive profiles of neurofibromatosis type 1 patients with minor brain malformations, MT Acosta, KS Walsh, PG Kardel, and RE Kutteruf

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis, NB Agochukwu, BD Solomon, AL Gropman, and M Muenke

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Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis, Nneamaka B. Agochukwu, Benjamin D. Solomon, Andrea L. Gropman, and Maximilian Muenke

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Visual acuity in children with low grade gliomas of the visual pathway: Implications for patient care and clinical research, Robert A. Avery, Rosalie E. Ferner, Robert Listernick, Michael J. Fisher, David H. Guttmann, and Grant T. Liu

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Neurological complications in plasma cell dyscrasias, Elham Bayat and John J. Kelly

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Echocardiography screening for rheumatic heart disease in Ugandan schoolchildren, Andrea Beaton, Emmy Okello, Peter Lwabi, Charles Mondo, Robert McCarter, and Craig Sable

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Medical and surgical treatment for ocular myasthenia, Michael Benatar and Henry J. Kaminski

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Recommendations for myasthenia gravis clinical trials., Michael Benatar, Donald P. Sanders, Ted M. Burns, Gary R. Cutter, Jeffrey T. Guptill, Fulvio Baggi, Henry J. Kaminski, Renato Mantegazza, Matthew N. Meriggioli, Joanne Quan, and Gil I. Wolfe

Recommendations for myasthenia gravis clinical trials, M Benatar, DB Sanders, TM Burns, and GR Cutter

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Bladder dysfunction in peripheral neuropathies, Ahmet Z. Burakgazi, Bander Alsowaity, Zeynep Aydin Burakgazi, Dogan Unal, and John J. Kelly

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The electrodiagnostic sensitivity of proximal lower extremity muscles in the diagnosis of L5 radiculopathy, Ahmet Z. Burakgazi, John J. Kelly, and Perry Richardson

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Skin biopsy-proven flecainide-induced neuropathy, Ahmet Z. Burakgazi, Michael Polydefkis, and Ahmet Hoke

Bladder dysfunction in peripheral neuropathies, AZ Burakgazi, B Alsowaity, ZA Burakgazi, and D Unal

The electrodiagnostic sensitivity of proximal lower extremity muscles in the diagnosis of L5 radiculopathy, AZ Burakgazi, JJ Kelly, and P Richardson

Skin biopsy-proven flecainide-induced neuropathy, AZ Burakgazi, M Polydefkis, and A Höke

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Lovastatin regulates brain spontaneous low-frequency brain activity in neurofibromatosis type 1, Camille Chabernaud, Maarten Mennes, Peter G. Kardel, William D. Gaillard, M. Layne Kalbfleisch, John Vanmeter, Roger J. Packer, Michael P. Milham, Francisco X. Castellanos, and Maria T. Acosta

Lovastatin regulates brain spontaneous low-frequency brain activity in Neurofibromatosis type 1, C Chabernaud, M Mennes, PG Kardel, and WD Gaillard

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Neurodiagnostic techniques in neonatal critical care, Taeun Chang and Adre J. Du Plessis

Neurodiagnostic techniques in neonatal critical care, T Chang and A Du Plessis

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Classification and definition of seizures and epilepsy syndromes in childhood, Susan E. Combs and Phillip L. Pearl

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Radiation therapy quality in CCG/POG intergroup 9961: Implications for craniospinal irradiation and the posterior fossa boost in future medulloblastoma trials, Bernadine Donahue, Mary A.H. Marymont, Sandra Kessel, Matthew K. Iandoli, Thomas Fitzgerald, Emiko Holmes, Mehmet Kocak, James M. Boyett, Amar Gajjar, and Roger J. Packer

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The effect of seizure focus on regional language processing areas, Elizabeth S. Duke, Mekdem Tesfaye, Madison Berl, Jennifer E. Walker, Eva K. Ritzl, Rebecca E. Fasano, Joan A. Conry, Phillip L. Pearl, Susumu Sato, William H. Theodore, and William D. Gaillard

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Phase II study of pre-irradiation chemotherapy for childhood intracranial ependymoma, James H. Garvin Jr., Michael T. Selch, Emi Holmes, Mitchell S. Berger, Jonathan L. Finlay, Ann Flannery, Joel W. Goldwein, Roger J. Packer, Lucy B. Rorke-Adams, Tania Shiminski-Maher, Richard Sposto, Philip Stanley, Raymond Tannous, and Ian F. Pollack

Patterns of Brain Injury in Inborn Errors of Metabolism, A Gropman and L.

Introduction, Andrea L. Gropman

Introduction (editorial), Andrea L. Gropman

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Patterns of brain injury in inborn errors of metabolism, Andrea L. Gropman

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Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy., Pavel Klein, Daniel Herr, Phillip L. Pearl, JoAnne Natale, Zachary Levine, Claude Nogay, Fabian Sandoval, Stacey Trzcinski, Shireen M. Atabaki, Tammy Tsuchida, John van den Anker, Steven J Soldin, Jianping He, and Robert McCarter

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Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy, Pavel Klein, Daniel Herr, Phillip L. Pearl, JoAnne Natale, Zachary Levine, Claude Nogay, Fabian Sandoval, Stacey Trzcinsky, Shireen M. Atabaki, Tammy Tsuchida, John van den Anker, Steven J. Soldin, Jianping He, and Robert McCarter

Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy, P Klein, D Herr, PL Pearl, and J Natale

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Vivid recollection of a past traumatic event: a rare manifestation of temporal lobe seizures., Mohamad Z. Koubeissi

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Vivid recollection of a past traumatic event: rare manifestation of temporal lobe seizures, Mohamad Z. Koubeissi

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Connectivity between perisylvian and bilateral basal temporal cortices, Mohamad Z. Koubeissi, Ronald P. Lesser, Alon Sinai, William D. Gaillard, Piotr J. Franaszczuk, and Nathan E. Crone

Vivid recollection of a past traumatic event: A rare manifestation of temporal lobe seizures, MZ Koubeissi

Connectivity between perisylvian and bilateral basal temporal cortices, MZ Koubeissi, RP Lesser, A Sinai, and WD Gaillard

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The role of complement in experimental autoimmune myasthenia gravis, Linda L. Kusner and Henry J. Kaminski

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Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: Correlating 7 tesla MRI and pathology, Justin Y. Kwan, Suh Young Jeong, Peter Van Gelderen, Han-Xiang Deng, Martha M. Quezado, Laura E. Danielian, John Butman, Lingye Chen, Elham Bayat, James Russell, Teepu Siddique, Jeff H. Duyn, Tracey A. Rouault, and Mary Kay Floeter

Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: Correlating 7 tesla MRI and pathology, JY Kwan, SY Jeong, P van Gelderen, and H Deng

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Physical comorbidity of migraine and other headaches in U.S. adolescents, Tarannum Lateef, Lihong Cui, Karin B. Nelson, Erin F. Nakamura, and Kathleen R. Merikangas

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Neurologic complaints in young children in the ED: When is cranial computed tomography helpful?, Tarannum M. Lateef, Rebecca Kriss, Karen Carpenter, and Karin B. Nelson

Physical comorbidity of migraine and other headaches in US adolescents, TM Lateef, L Cui, KB Nelson, and EF Nakamura

Neurologic complaints in young children in the ED: when is cranial computed tomography helpful?., TM Lateef, R Kriss, K Carpenter, and KB Nelson

Nutritional cerebellar degeneration, with comments on its relationship to Wernicke disease and alcoholism, R Laureno

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Nutritional cerebellar degeneration, with comments on its relationship to Wernicke disease and alcoholism, Robert Laureno

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Tetrasomy 15q26: A distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?, Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum, Tammy Tsuchida, Beth A. Pletcher, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Kurt Hirschhorn, Peter Warburton, and Alan Shanske

Tetrasomy 15q26: A distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?, B Levy, D Tegay, P Papenhausen, and J Tepperberg

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Risk factors associated with death in in-hospital pediatric convulsive status epilepticus, Tobias Loddenkemper, Tanvir U. Syed, Sriram Ramgopal, Deepak Gulati, Sikawat Thanaviratananich, Sanjeev V. Kothare, Amer Alshekhlee, and Mohamad Z. Koubeissi

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Natural History of Myasthenia Gravis, Vladimir Luchanok and Henry J. Kaminski

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aEEG evolution during therapeutic hypothermia and prediction of NICU outcome in encephalopathic neonates, An Nguyen Massaro, Tammy Tsuchida, Nadja Kadom, Mohamed El-Dib, Penny Glass, Stephen Baumgart, and Taeun Chang

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Implementing clinical trials on an international platform: Challenges and perspectives, Greg Minisman, Minal Bhanushali, Robin Conwit, Gil I. Wolfe, Inmaculada Aban, Henry J. Kaminski, and Gary Cutter

Impact of molecular biology studies on the understanding of brain tumors in childhood, AA Nageswara Rao and RJ Packer

Biologically targeted therapeutics in pediatric brain tumors, AA Nageswara Rao, J Scafidi, EM Wells, and RJ Packer

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Impact of molecular biology studies on the understanding of brain tumors in childhood., Amulya A. Nageswara Rao and Roger J. Packer

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Biologically targeted therapeutics in pediatric brain tumors, Amulya A. Nageswara Rao, Joseph Scafidi, Elizabeth M. Wells, and Roger J. Packer

Temozolomide for pediatric high-grade gliomas, RJ Packer

Neuro-oncology: Understanding the molecular complexity of medulloblastoma., RJ Packer and EP Hoffman

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Temozolomide for pediatric high-grade gliomas, Roger J. Packer

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Neuro-oncology: Understanding the molecular complexity of medulloblastoma, Roger J. Packer and Eric P. Hoffman

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Medulloblastoma and primitive neuroectodermal tumors, Roger J. Packer, Tobey Macdonald, Gilbert Vezina, Robert F. Keating, and Mariarita Santa

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Inherited Metabolic Epilepsies, Phillip Pearl

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Does therapeutic hypothermia alter the role of SSEP in predicting outcome after cardiac arrest?, Ted L. Rothstein

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Therapeutic hypothermia and reliability of somatosensory evoked potentials in predicting outcome after cardiopulmonary arrest, Ted L. Rothstein

Does therapeutic hypothermia alter the role of SSEP in Predicting Outcome after Cardiac Arrest?, TL Rothstein

Medulloblastoma/Primitive Neuroectodermal Tumor and Germ Cell Tumors: The Uncommon but Potentially Curable Primary Brain Tumors, A Samkari, E Hwang, and RJ Packer

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Medulloblastoma/primitive neuroectodermal tumor and germ cell tumors: the uncommon but potentially curable primary brain tumors, Ayman Samkari, Eugene Hwang, and Roger J. Packer

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Insights into pediatric diffuse intrinsic pontine glioma through proteomic analysis of cerebrospinal fluid, Amanda M. Saratsis, Sridevi Yadavilli, Suresh N. Magge, Brian R. Rood, Jennifer Perez, D. Ashley Hill, Eugene Hwang, Lindsay Kilburn, Roger J. Packer, and Javad Nazarian

Insights into pediatric diffuse intrinsic pontine glioma through proteomic analysis of cerebrospinal fluid., AM Saratsis, S Yadavilli, S Magge, and BR Rood

Neurologic considerations in propionic acidemia, J Schreiber, KA Chapman, ML Summar, and N Ah Mew

Continuous video EEG for patients with acute encephalopathy in a pediatric intensive care unit, JM Schreiber, T Zelleke, WD Gaillard, and H Kaulas

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Neurologic considerations in propionic acidemia., John M. Schreiber, Kimberly A. Chapman, Marshall Summar, Nicholas Ah Mew, V. R. Sutton, Erin MacLeod, Kathy Stagni, Keiko Ueda, Jill Franks, Eddie Island, Dietrich Matern, Loren Pena, Brittany Smith, Tiina Urv, Charles P. Venditti, Anupam Chakarapani, and Andrea L. Gropman

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Continuous video EEG for patients with acute encephalopathy in a pediatric intensive care unit, John M. Schreiber, Tesfaye Zelleke, William D. Gaillard, Himanshu Kaulas, Nathan Dean, and Jessica L. Carpenter

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Seizures in acute childhood stroke, Rani K. Singh, Nassim Zecavati, Jarnail Singh, Himanshu Kaulas, Karin B. Nelson, Nathan P. Dean, William D. Gaillard, and Jessica Carpenter

Seizures in acute childhood stroke, RK Singh, N Zecavati, J Singh, and H Kaulas

High intellectual function in individuals with mutation-positive microform holoprosencephaly, BD Solomon, DE Pineda-Alvarez, AL Gropman, and MJ Willis

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High intellectual function in individuals with mutation-positive microform holoprosencephaly, B. D. Solomon, D. E. Pineda-Alvarez, Andrea L. Gropman, M. J. Willis, D. W. Hadley, and M. Muenke

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Protective effect of scFv-DAF fusion protein on the complement attack to acetylcholine receptor: a possible option for treatment of myasthenia gravis, Chen Song, Zhikai Xu, Jianting Miao, Jiang Xu, Xingan Wu, Fanglin Zhu, Hong Lin, Zhuyi Li, and Henry J. Kaminski

Protective effect of scFv-DAF fusion protein on the complement attack to acetylcholine receptor: A possible option for treatment of myasthenia gravis, C Song, Z Xu, J Miao, and J Xu

Placental weight and neurologic outcome in the infant: A review, J Teng, T Chang, C Reyes, and KB Nelson

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Placental weight and neurologic outcome in the infant: A review, Jennifer Teng, Taeun Chang, Christine Reyes, and Karin B. Nelson

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The quick motor function test: A new tool to rate clinical severity and motor function in Pompe patients, Carine I. van Capelle, Nadine A.M.E. van der Beek, Juna M. de Vries, Pieter A. van Doorn, Hugo J. Duivenvoorden, Robert T. Leshner, Marloes L.C. Hagemans, and Ans T. van der Ploeg

The quick motor function test: A new tool to rate clinical severity and motor function in Pompe patients, CI Van Capelle, N Van Der Beek, JM De Vries, and PA Van Doorn

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A prognostic gene expression signature in infratentorial ependymoma, Khalida Wani, Terri S. Armstrong, Elizabeth Vera-Bolanos, Aditya Raghunathan, David Ellison, Richard Gilbertson, Brian Vaillant, Stewart Goldman, Roger J. Packer, and +11 additional authors

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Sirolimus for non-progressive NF1-associated plexiform neurofibromas: An NF clinical trials consortium phase II study, Brian Weiss, Brigitte C. Widemann, Pamela Wolters, Eva Dombi, Alexander A. Vinks, Alan Cantor, Bruce Korf, John Perentesis, David H. Gutmann, Elizabeth Schorry, Roger J. Packer, and Michael J. Fisher

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Pediatric brain tumors and epilepsy, Elizabeth M. Wells, William D. Gaillard, and Roger J. Packer

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Neurotoxicity of biologically targeted agents in pediatric cancer trials, Elizabeth M. Wells, Amulya A. Nageswara Rao, Joseph Scafidi, and Roger J. Packer

Neurotoxicity of biologically targeted agents in pediatric cancer trials, EM Wells, AA Nageswara Rao, J Scafidi, and RJ Packer

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β-Catenin signaling initiates the activation of astrocytes and its dysregulation contributes to the pathogenesis of astrocytomas, Chunzhang Yang, Rajiv R. Iyer, Albert C.H. Yu, Raymund L. Yong, Deric M. Park, Robert J. Weil, Barbara Ikejiri, Roscoe O. Brady, Russell R. Lonser, and Zhengping Zhuang

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Genomic profiling reveals Pitx2 controls expression of mature extraocular muscle contraction-related genes, Yuefang Zhou, Bendi Gong, and Henry J. Kaminski

Submissions from 2011

Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study., MT Acosta, PG Kardel, KS Walsh, and KN Rosenbaum