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Submissions from 2016

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American Clinical Neurophysiology Society Guideline 4: Recording Clinical EEG on Digital Media., Jonathan J Halford, Dragos Sabau, Frank W Drislane, Tammy N Tsuchida, and Saurabh R Sinha

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Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy., Guy Helman, Ljubica Caldovic, Matthew T. Whitehead, Cas Simons, Knut Brockmann, Simon Edvardson, Renkui Bai, Isabella Moroni, J Michael Taylor, Keith Van Haren, Ryan J Taft, Adeline Vanderver, and Marjo S van der Knaap

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Electroencephalographic characteristics of epileptic seizures in preterm neonates., Soňa Janáčková, Steward Boyd, Elissa Yozawitz, Tammy Tsuchida, Marie-Dominique Lamblin, Sophie Gueden, and Ronit Pressler

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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts., E. Jenkinson, M. Rodero, P. Kasher, C. Uggenti, A. Oojageer, Adeline Vanderver, and +51 additional authors

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Yawning induced by focal electrical stimulation in the human brain., Sweta Joshi, Arezou Bayat, Linda Gagnon, Donald C. Shields, and Mohamad Z. Koubeissi

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Anti-N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis: A Survey of Treatment Progress and Prospects From Pediatric Neurologists., Ilana Kahn, Guy Helman, Adeline Vanderver, and Elizabeth Wells

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Seronegative Myasthenia Gravis-A Vanishing Disorder?, Henry J. Kaminski

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Differential RNA Expression Profile of Skeletal Muscle Induced by Experimental Autoimmune Myasthenia Gravis in Rats, Henry J. Kaminski, Keiichi Himuro, Jumana Alshaikh, Bendi Gong, Georgiama Cheng, and Linda L. Kusner

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Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation., Megan S Kane, Mariska Davids, Christopher Adams, Lynne A Wolfe, Helen W Cheung, Andrea Gropman, Yan Huang, Bobby G Ng, Hudson H Freeze, David R Adams, William A Gahl, and Cornelius F Boerkoel

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Update on Leukodystrophies: A Historical Perspective and Adapted Definition., Sietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, Guy Helman, Sakkubai Naidu, Raphael Schiffmann, Susan Blaser, Adeline Vanderver, Nicole I Wolf, and Marjo S van der Knaap

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Long-term neurologic health and psychosocial function of adult survivors of childhood medulloblastoma/PNET: a report from the Childhood Cancer Survivor Study., Allison A King, Kristy Seidel, Chongzhi Di, Wendy M Leisenring, Stephanie Mabry Perkins, Kevin R Krull, Charles A Sklar, Daniel M Green, Gregory T Armstrong, Lonnie K Zeltzer, Elizabeth Wells, Marilyn Stovall, Nicole J Ullrich, Kevin C Oeffinger, Leslie L Robison, and Roger J. Packer

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Response To Treatment In A Prospective National Infantile Spasms Cohort., Kelly G Knupp, Jason Coryell, Katherine C Nickels, Nicole Ryan, Erin Leister, William D. Gaillard, Zachary Grinspan, and +13 additional authors

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Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort., Kelly G Knupp, Erin Leister, Jason Coryell, Katherine C Nickels, Nicole Ryan, William D. Gaillard, and +15 additional authors

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Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study, Stephen J. Kolb, Christopher S. Coffey, Jon W. Yankey, Kristin Krosschell, David Arnold, Mathula Thangarajh, +20 additoinal authors, and NeuroNEXT Clinical Trial Network

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Expert opinion regarding invasive monitoring: from surface to depth, Mohamad Z. Koubeissi

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A white matter tract mediating awareness of speech., Mohamad Z. Koubeissi, Guadalupe Fernandez-Baca Vaca, Robert Maciunas, and Caspar Stephani

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Multiple hippocampal transections for intractable hippocampal epilepsy: Seizure outcome., Mohamad Z. Koubeissi, Emine Kahriman, Philip Fastenau, Christopher Bailey, Jonathan P. Miller, Tanvir U. Syed, Shahram Amina, Charles Munyon, Adriana Tanner, Kristina Karanec, Ingrid Tuxhorn, and Hans O. Lüders

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Multiple hippocampal transections for intractable hippocampal epilepsy: Seizure outcome., Mohamad Z. Koubeissi, Emine Kahriman, Philip Fastenau, Christopher Bailey, Tanvir Syed, Shahram Amina, Jonathan Miller, Charles Munyon, Adriana Tanner, Kristina Karanec, Ingrid Tuxhorn, and Hans Lüders

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Rasmussen encephalitis tissue transfer program, C. A. Kruse, C. Pardo, A. Hartman, G. Jallo, E. Vining, William D. Gaillard, Chima O. Oluigbo, and +46 additional authors

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American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography, John Kuratani, Phillip L Pearl, Lucy Sullivan, Rosario Maria S Riel-Romero, Janna Cheek, Mark Stecker, Daniel San-Juan, Olga Selioutski, Saurabh R Sinha, Frank W Drislane, and Tammy N. Tsuchida

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Clinical, Pathological, and Molecular Characterization of Infant Medulloblastomas Treated with Sequential High-Dose Chemotherapy., Lucie Lafay-Cousin, Amy Smith, Susan N. Chi, Elizabeth M. Wells, and +11 more

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Diffuse hypomyelination is not obligate for POLR3-related disorders., Roberta La Piana, Ferdy K Cayami, Luan T Tran, Kether Guerrero, Rosalina van Spaendonk, Adeline Vanderver, and +several additional authors

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Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1, Meghann Lau, Ryan Lee, Robin MIyamoto, Eun Sol Jung, Nicole Farhat, Shoko Yoshida, Susumu Mori, Andrea L. Gropman, Eva Baker, and Forbes Porter

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Neurologic and neuroimaging manifestations of Cantú syndrome: A case series., Christopher R. Leon Guerrero, Sheel Pathak, Dorothy K Grange, Gautam K. Singh, Colin G. Nichols, Jin-Moo Lee, and Katie D. Vo

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Precision medicine in myasthenia graves: begin from the data precision., Hai-Feng Li, Yu Hong, Yanchen Xie, Hong-Jun Hao, and Ren-Cheng Sun

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Phase I trial of p28 (NSC745104), a non-HDM2-mediated peptide inhibitor of p53 ubiquitination in pediatric patients with recurrent or progressive central nervous system tumors: A Pediatric Brain Tumor Consortium Study., Rishi R Lulla, Stewart Goldman, Tohru Yamada, Craig W Beattie, Linda Bressler, Michael Pacini, Ian F Pollack, Paul Graham Fisher, Roger J. Packer, Ira J Dunkel, Girish Dhall, Shengjie Wu, Arzu Onar, James M Boyett, and Maryam Fouladi

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Obesity Prevention and Screening., Eleanor R Mackey, Alexandra Olson, Marc DiFazio, and Omni Cassidy

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Prevalence and Risk Factors for Early Seizure in Patients with Traumatic Brain Injury: Analysis from National Trauma Data Bank., Shahram Majidi, Yamane Makke, Amr Ewida, Bahareh Sianati, Adnan I Qureshi, and Mohamad Z. Koubeissi

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Management of Acute Hypertensive Response in Intracerebral Hemorrhage Patients After ATACH-2 Trial, Shahram Majidi, J. Suarez, and Faisal G. Qureshi

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Neuropathology in a case of episodic ataxia type 4., M J Merrill, D Nai, Pritha Ghosh, N A Edwards, M Hallett, and A Ray-Chaudhury

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KCNQ2 encephalopathy, John Millichap, Kristen Park, Tammy N. Tsuchida, Bruria Ben-Zeev, Lionel Carmant, and On Behalf of the RIKEE Consortium

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Divergent clonal selection dominates medulloblastoma at recurrence, A. Sorana Morrissey, L. Garza, D. Shih, S. Zuyderduyn, X. Huang, Roger Packer, and +several additional authors

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Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT)., Stephanie M Morris, Maria T. Acosta, Shruti Garg, Jonathan Green, Susan Huson, Eric Legius, Kathryn N North, Jonathan M Payne, Ellen Plasschaert, Thomas W Frazier, Lauren A Weiss, Yi Zhang, David H Gutmann, and John N Constantino

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Neural Basis of Visual Attentional Orienting in Childhood Autism Spectrum Disorders., Eric R Murphy, Megan Norr, John F Strang, Lauren Kenworthy, William D. Gaillard, and Chandan J Vaidya

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A 3-Day-Old Girl Referred From Her Pediatrician for Oral Ulcerations., Mary Lauren Neel, Jeremy Kern, and Tova Ronis

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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease., Yi Shiau Ng, Charlotte L Alston, Daria Diodato, Andrew A Morris, Nicole Ulrick, Stanislav Kmoch, and +several additional authors

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Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma., Hamid Nikbakht, Eshini Panditharatna, Leonie G Mikael, Rui Li, Tenzin Gayden, Alan Siu, Roger J. Packer, Javad Nazarian, and +16 additional authors

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NemaCount: quantification of nematode chemotaxis behavior in a browser., Damien O'Halloran

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Cerebrofacial arteriovenous metameric syndrome (CAMS): a spectrum disorder of craniofacial vascular malformations., Lauren O'Loughlin, Mari L Groves, Neil R Miller, and Monica S. Pearl

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Pediatric low-grade gliomas: implications of the biologic era., Roger J. Packer, Stephan Pfister, Eric Bouffet, Robert Avery, Pratiti Bandopadhayay, Miriam Bornhorst, and +26 additional authors

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Therapeutic impact of cytoreductive surgery and irradiation of posterior fossa ependymoma in the molecular era: A retrospective multicohort analysis, V. Ramaswamy, T. Hielscher, S. Mack, A. Lassaletta, T. Lin, Roger J. Packer, and +several additional authors

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Corrigendum to "Proceedings of the Seventh International Workshop on Advances in Electrocorticography" [Epilepsy Behav. 51 (2015) 312-320]., Anthony Ritaccio, Riki Matsumoto, Martha Morrell, Kyousuke Kamada, Mohamad Koubeissi, David Poeppel, Jean-Philippe Lachaux, and Takufumi Yanagisawa

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Intraoperative MRI-guided resection of focal cortical dysplasia in pediatric patients: technique and outcomes., Matthew F Sacino, Cheng-Ying Ho, Jonathan Murnick, Tammy Tsuchida, Suresh N. Magge, Robert F. Keating, William D. Gaillard, and Chima O. Oluigbo

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A molecular biology and phase II study of imetelstat (GRN163L) in children with recurrent or refractory central nervous system malignancies: a pediatric brain tumor consortium study., Ralph Salloum, Trent R Hummel, Shiva Senthil Kumar, Kathleen Dorris, Shaoyu Li, Roger J. Packer, and +13 additional authors

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Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency., John M Schreiber, Phillip L. Pearl, Irene Dustin, Edythe Wiggs, Emily Barrios, Eric M Wassermann, K Michael Gibson, and William H Theodore

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Women with epilepsy., A Sharma, Francois Boller, and Mohamad Z. Koubeissi

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Fellowship Training in the Emerging Fields of Fetal-Neonatal Neurology and Neonatal Neurocritical Care., Christopher D Smyser, Emily W Y Tam, Taeun Chang, Janet S Soul, Steven P Miller, and Hannah C Glass

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American Clinical Neurophysiology Society Guideline 6: Minimum Technical Standards for EEG Recording in Suspected Cerebral Death, Mark M Stecker, Dragos Sabau, Lucy Sullivan, Rohit R Das, Olga Selioutski, Frank W Drislane, Tammy N. Tsuchida, and William O Tatum

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Refractory Status Epilepticus in Children: Intention to Treat With Continuous Infusions of Midazolam and Pentobarbital., Robert C Tasker, Howard P Goodkin, Iván Sánchez Fernández, Kevin E Chapman, William D. Gaillard, Ravindra Arya, and +15 additional authors

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American Clinical Neurophysiology Society Guideline 7: Guidelines for EEG Reporting, William O Tatum, Selioutski Olga, Juan G Ochoa, Heidi Munger Clary, Janna Cheek, Frank Drislane, and Tammy N. Tsuchida

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American Clinical Neurophysiology Society: EEG Guidelines Introduction, Tammy N. Tsuchida, Jayant N Acharya, Jonathan J Halford, John D Kuratani, Saurabh R Sinha, Mark M Stecker, William O Tatum, and Frank W Drislane

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Genetic Leukoencephalopathies in Adults., Adeline Vanderver

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Whole exome sequencing in patients with white matter abnormalities., Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I Wolf, Joseph Devaney, and +20 additional authors

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Challenges in Determining the Role of Rest and Exercise in the Management of Mild Traumatic Brain Injury., Elizabeth M. Wells, Howard P Goodkin, and Grace S Griesbach

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Randomized Trial of Thymectomy in Myasthenia Gravis., Gil I Wolfe, Henry J. Kaminski, Inmaculada B Aban, Greg Minisman, Hui-Chien Kuo, +45 additional authors, and +303 collaborators

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Elevated plasma interleukin-17A in a subgroup of Myasthenia Gravis patients., Yanchen Xie, Hai-Feng Li, Bin Jiang, Yao Li, Henry J Kaminski, and Linda L Kusner

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GR gene polymorphism is associated with inter-subject variability in response to glucocorticoids in patients with myasthenia gravis., Yanchen Xie, Y. Meng, H-F. Li, Y. Hong, Linda L. Kusner, Henry J. Kaminski, and + 6 more

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GR gene polymorphism is associated with inter-subject variability in response to glucocorticoids in patients with myasthenia gravis., Y Xie, Y Meng, H-F Li, Y Hong, L Sun, X Zhu, Y-X Yue, X Gao, S Wang, Y Li, Linda L. Kusner, and Henry J. Kaminski

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The Role of NG2 Proteoglycan in Glioma., Sridevi Yadavilli, Eugene I Hwang, Roger J. Packer, and Javad Nazarian

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The molecular and phenotypic spectrum of IQSEC2-related epilepsy., Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, William D. Gaillard, Cheryl Shoubridge, and +23 additional authors

Submissions from 2015

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Searching for molecular-targeted interventions for NF1 cognitive deficits in the classroom., Maria T. Acosta

Cocaine-Induced Acute Fatal Basilar Artery Thrombosis: Report of a Case and Review of the Literature, Saeed Ayed Alqahtani, Kathleen M. Burger, and Samuel Potolicchio

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Botulinum Neurotoxin Injections for the Treatment of Tremor, Katharine E. Alter and Pritha Ghosh

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Botulinum Neurotoxins for the Treatment of Headache, Katharine E. Alter and Pritha Ghosh

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Levetiracetam-induced pancytopenia., Talal Alzahrani, Dana Kay, Saeed A. Alqahtani, Yamane Makke, Linda Lesky, and Mohamad Z. Koubeissi

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Advanced MR imaging of the placenta: Exploring the in utero placenta-brain connection., Nickie Niforatos Andescavage, Adre du Plessis, and Catherine Limperopoulos

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Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project., Paul L Auer, Mike Nalls, James F Meschia, Bradford B Worrall, W T Longstreth, Sudha Seshadri, Charles Kooperberg, Kathleen M Burger, and and 20 others

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Longitudinal Change of Circumpapillary Retinal Nerve Fiber Layer Thickness in Children with Optic Pathway Gliomas., Robert A. Avery, Avital Cnaan, Joel S. Schuman, Carmelina Trimboli-Heidler, Chieh-Li Chen, Roger J. Packer, and Hiroshi Ishikawa

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Applications of Optical Coherence Tomography in Pediatric Clinical Neuroscience., Robert A. Avery, Raneem D. Rajjoub, Carmelina Trimboli-Heidler, and Amy T. Waldman

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MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia, E. H. Baker, J. L. Sloan, N. S. Hauser, Andrea L. Gropman, D. R. Adams, C. Toro, I. Manoli, and C. P. Venditti

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Pearls & Oy-sters: Cerebral venous air embolism after central catheter removal: Too much air can kill., Luca Bartolini and Kathleen Burger

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Fetal growth restriction and risk of cerebral palsy in singletons born after at least 35 weeks' gestation, Eve M. Blair and Karin B. Nelson

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The History of the World Federation of Neurology: The First 50 Years by Johan A. Aarli., François Boller

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Sexual function after strokes., François Boller, Kunal Agrawal, and Alissa Romano

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Paul Wittgenstein's right arm and his phantom: the saga of a famous concert pianist and his amputation., François Boller and Julien Bogousslavsky

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Fetal magnetic resonance imaging: exposure times and functional outcomes at preschool age., Marine Bouyssi-Kobar, Adre J. du Plessis, Richard L. Robertson, and Catherine Limperopoulos

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A dietary intervention for chronic diabetic neuropathy pain: a randomized controlled pilot study, A. E. Bunner, C. L. Wells, J. Gonzales, U. Agarwal, Elham Bayat, and Neal D. Barnard

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A pilot study using carboplatin, vincristine, and temozolomide in children with progressive/symptomatic low-grade glioma: a Children's Oncology Group study†., Murali Chintagumpala, Sandrah P Eckel, Mark Krailo, Michael Morris, Adekunle Adesina, Roger Packer, Ching Lau, and Amar Gajjar

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Pilot Study of Intensive Chemotherapy With Peripheral Hematopoietic Cell Support for Children Less Than 3 Years of Age With Malignant Brain Tumors, the CCG-99703 Phase I/II Study. A Report From the Children's Oncology Group., Bruce H Cohen, J Russell Geyer, Douglas C Miller, John G Curran, Tianni Zhou, Emi Holmes, Sue Ann Ingles, Ira J Dunkel, Joanne Hilden, Roger J. Packer, Ian F Pollack, Amar Gajjar, and Jonathan L Finlay

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Epidural steroid injections compared with gabapentin for lumbosacral radicular pain: multicenter randomized double blind comparative efficacy study, Steven P. Cohen, Steven Hanling, Mark C. Bicket, Ronald L. White, Elias Velzi, Connie Kurihara, Zirong Zhao, Salim Hayek, Kevin B. Guthmiller, Scott R. Griffith, Vitaly Gordin, Mirinda Anderson White, Yakov Vorobeychik, and Paul F. Pasquina

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ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells., Eloy Cuadrado, Thijs Booiman, John L van Hamme, Machiel H Jansen, Karel A van Dort, Adeline Vanderver, Gillian I Rice, Yanick J Crow, Neeltje A Kootstra, and Taco W Kuijpers

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Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies, Eloy Cuadrado, Adeline Vanderver, Kristy J. Brown, Annie Sandza, Asako Takanohashi, and + 11 additional authors

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Prolonged Activity Restriction After Concussion: Are We Worsening Outcomes?, Marc DiFazio, Noah Silverberg, Michael W Kirkwood, Raquel Bernier, and Grant L Iverson

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Mitral Subvalvular Aneurysm in a Patient with Chagas Disease and Recurrent Episodes of Ventricular Tachycardia., Tereza Augusta Grillo, Guilherme Rafael S Athayde, Ana Flávia L Belfort, Reynaldo C Miranda, Andrea Z. Beaton, and Bruno R Nascimento

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Disease specific therapies in leukodystrophies and leukoencephalopathies., Guy Helman, Keith Van Haren, Joshua L. Bonkowsky, Genevieve Bernard, Amy Pizzino, Adeline Vanderver, and +16 additional authors

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Emerging Treatments for Pediatric Leukodystrophies., Guy Helman, Keith Van Haren, Maria L. Escolar, and Adeline Vanderver

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Successful subthalamic nucleus deep brain stimulation therapy after significant lead displacement from a subdural hematoma, Esmiralda Yeremeyeva Henderson, Timothy Goble, Pierre-Francois D'Haese, Srivatsan Pallavaram, Chima Oluigbo, Punit Agrawal, Milind Deogaonkar, and Ali Rezai

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Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment., Christian J Hendriksz, Joseph Muenzer, Adeline Vanderver, Jonathan M Davis, Barbara K Burton, Nancy J Mendelsohn, Nan Wang, Luying Pan, Arian Pano, and Ann J Barbier

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Phase I trial of weekly MK-0752 in children with refractory central nervous system malignancies: a pediatric brain tumor consortium study., Lindsey M. Hoffman, Maryam Fouladi, James Olson, Vinay M Daryani, Clinton F. Stewart, Cynthia Wetmore, Mehmet Kocak, Arzu Onar-Thomas, Lars Wagner, Sridharan Gururangan, Roger J. Packer, Susan M Blaney, Amar Gajjar, Larry E. Kun, James M. Boyett, and Richard J. Gilbertson

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Outcome and prognostic factors for children with supratentorial primitive neuroectodermal tumors treated with carboplatin during radiotherapy: A report from the Children's Oncology Group., Regina I. Jakacki, Peter C. Burger, Mehmet Kocak, James M. Boyett, Joel Goldwein, Minesh Mehta, Roger J. Packer, Nancy J. Tarbell, and Ian F. Pollack

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CSF and Blood Levels of GFAP in Alexander Disease(1,2,3)., Paige L Jany, Guillermo E Agosta, William S Benko, Jens C Eickhoff, Stephanie R Keller, Adeline Vanderver, and +13 additional authors

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Sleep Dysfunction and Gastrointestinal Diseases., Vikesh Khanijow, Pia Prakash, Helene Emsellem, Marie L. Borum, and David B. Doman

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Seizures worsen stroke outcome: new evidence from a large sample., Mohamad Koubeissi

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Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)., Yiouli P. Ktena, Scott M. Paul, Natalie S. Hauser, Jennifer L. Sloan, Andrea Gropman, Irini Manoli, and Charles P. Venditti

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Accuracy of Family History Reports of Migraine in a Community-Based Family Study of Migraine., Tarannum M. Lateef, Lihong Cui, Erin Nakamura, Jaclyn Dozier, and Kathleen Merikangas

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Seizures, encephalopathy, and vaccines: experience in the National Vaccine Injury Compensation Program., Tarannum M. Lateef, Rosemary Johann-Liang, Himanshu Kaulas, Rakibul Hasan, Karen Williams, Vito Caserta, and Karin B. Nelson

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Patterns and severity of vincristine-induced peripheral neuropathy in children with acute lymphoblastic leukemia., Ellen M. Lavoie Smith, Lang Li, ChienWei Chiang, Karin Thomas, Raymond J. Hutchinson, Elizabeth M. Wells, Richard H. Ho, Jodi Skiles, Arindom Chakraborty, Celia M. Bridges, and Jamie Renbarger

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export., Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, Francois Boller, and et al.

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export., Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João R M Oliveira, Renee L Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ángel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L Fogel, Cyril Goizet, Joanna C Jen, Suppachok Kirdlarp, Anthony E Lang, Zosia Miedzybrodzka, Witoon Mitarnun, Martin Paucar, Henry Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi S Salins, Sheila A Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K Unni, Olivier Vanakker, Marja W Wessels, Suppachok Wetchaphanphesat, Michele Yang, Francois Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H Geschwind, Jean-Luc Battini, and Giovanni Coppola

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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings., Zejuan Li, Rhonda Schonberg, Lucia Guidugli, Amy Knight Johnson, Stephen Arnovitz, Sandra Yang, Joseph Scafidi, Marshall L. Summar, Gilbert Vezina, Soma Das, Kimberly Chapman, and Daniela Del Gaudio