Submissions from 2013
Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas, Robert A. Avery, Eva Dombi, Kelly A. Hutcheson, Maria T. Acosta, Andrea M. Baldwin, William P. Madigan, Andrea Gillespie, Edmond J. Fitzgibbon, Roger J. Packer, and Brigitte C. Widemann
Marked recovery of vision in children with optic pathway gliomas treated with bevacizumab, Robert A. Avery, Eugene I. Hwang, Regina I. Jakacki, and Roger J. Packer
The ketogenic diet: Initiation at goal versus gradual caloric advancement, Seema Bansal, Laura Cramp, Dan Blalock, Tesfaye Zelleke, Jessica L. Carpenter, and Amy Kao
Brain gamma-aminobutyric acid (GABA) abnormalities in bipolar disorder, Roscoe O. Brady, Julie M. McCarthy, Andrew P. Prescot, J. Eric Jensen, Alissa J. Cooper, Bruce M. Cohen, Perry F. Renshaw, and Dost Ongur
An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain, Roscoe O. Brady, Chunzhang Yang, and Zhengping Zhang
Supply and demand analysis of the current and future U.S. neurology workforce, Timothy M. Dall, Michael V. Storm, Ritashree Chakrabarti, Oksana Drogan, Christopher M. Keran, Peter D. Donofrio, Victor W. Henderson, Henry J. Kaminski, James C. Stevens, and Thomas R. Vidic
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism, Hussein Daoud, Martine Tétreault, William Gibson, Kether Guerrero, Ana Cohen, Janina Gburek-Augustat, Matthis Synofzik, Bernard Brais, Cathy A. Stevens, Rocio Sanchez-Carpintero, Cyril Goizet, Sakkubai Naidu, Adeline Vanderver, and Genevieve Bernard
Treatment options for medulloblastoma and CNS primitive neuroectodermal tumor (PNET), Kevin C. DeBraganca and Roger J. Packer
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study, Christel Depienne, Marianna Bugiani, Celine Dupuits, Damien Galanaud, Valerie Touitou, Carola van Berkel, Emiel Polder, Eleonore Tollard, Frederic Darios, Alexis Brice, Christine E. de Die-Smulders, Johannes S. Vles, and Adeline Vanderver
Middle ear myoclonus: Two informative cases and a systematic discussion of myogenic tinnitus, Aviva Ellenstein, Nadia Yusuf, and Mark Hallett
99mTc-sestamibi scintigraphy to monitor the long-term efficacy of enzyme replacement therapy on bone marrow infiltration in patients with Gaucher disease, Paola A. Erba, Fabrizio Minichilli, Fiorina Giona, Silvia Linari, James Dambrosia, Anna Pierini, Mirella Filocamo, Maja DiRocco, Ferdinando Buffoni, Roscoe O. Brady, and Giuliano Mariani
Quantitation of gamma-hydroxybutyric acid in dried blood spots: Feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency, Sabrina Forni, Phillip L. Pearl, K. Michael Gibson, Yuezhou Yu, and Lawrence Sweetman
A molecular biology and phase II trial of lapatinib in children with refractory CNS malignancies: A pediatric brain tumor consortium study, Maryam Fouladi, Clinton F. Stewart, Susan M. Blaney, Arzu Onar-Thomas, Paul Schaiquevich, Roger J. Packer, Stewart Goldman, J. Russell Geyer, Amar Gajjar, Larry E. Kun, James M. Boyett, and Richard J. Gilbertson
Negative diffusion-weighted imaging after intravenous tissue-type plasminogen activator is rare and unlikely to indicate averted infarction., Jason W. Freeman, Marie Luby, Jose G. Merino, Lawrence L. Latour, Sungyoung Auh, Shlee S. Song, Alejandro Magadan, John K. Lynch, Steven Warach, and Amie W. Hsia
Children's Oncology Group's 2013 blueprint for research: Central nervous system tumors, Amar Gajjar, Roger J. Packer, N. K. Foreman, Kenneth Cohen, Daphne Haas-Kogan, Thomas E. Merchant, and COG Brain Tumor Committee
Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: A pediatric brain tumor consortium study, Amar Gajjar, Clinton F. Stewart, David W. Ellison, Sue Kaste, Larry E. Kun, Roger J. Packer, Stewart Goldman, Murali Chintagumpala, Dana Wallace, Naoko Takebe, James M. Boyett, Richard J. Gilbertson, and Tom Curran
Are structural brain abnormalities associated with suicidal behavior in patients with psychotic disorders?, Christoforos I. Giakoumatos, Neeraj Tandon, Jai Shah, Ian T. Mathew, Roscoe O. Brady, Brett A. Clementz, Godfrey D. Pearlson, Gunvant K. Thaker, Carol A. Tamminga, John A. Sweeney, and Matcheri S. Ketchavan
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression, Elisa Giorgio, Harshvardhan Rolyan, Laura Kropp, Anish Baswanth Chakka, Svetlana Yatsenko, Adeline Vanderver, and +31 additional authors
Treating melancholia at home: Theoretical wisdom and grim reality in the career of E.C. Seguin., Christopher G. Goetz and Donald H. Harter
Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working Group, Nicholas G. Gottardo, Jordan R. Hansford, Jacqueline P. McGlade, Frank Alvaro, David M. Ashley, Roger J. Packer, and +45 additional authors
Mitochondrial mechanisms and neurological disorders, Andrea L. Gropman
Neuroimaging in mitochondrial disorders, Andrea L. Gropman
Urea cycle defects and hyperammonemia: Effects on functional imaging, Andrea L. Gropman, Morgan Prust, Andrew L. Breeden, Stanley T. Fricke, and John Vanmeter
Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: An fMRI study, Andrea L. Gropman, Kyle Shattuck, Morgan J. Prust, Rebecca R. Seltzer, Andrew L. Breeden, Ayichew Hailu, Amanda Rigas, Rehan Hussain, and John Vanmeter
Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations, Andrea Gropman and Carole A. Samango-Sprouse
Optimizing biologically targeted clinical trials for neurofibromatosis, David H. Gutmann, Jaishri O. Blakeley, Bruce R. Korf, and Roger J. Packer
Research implications of the Institute of Medicine Report, Epilepsy Across the Spectrum: Promoting health and understanding, Dale C. Hesdorffer, Vicki Beck, Charles E. Begley, Malachy L. Bishop, Sandra Cushner-Weinstein, Gregory L. Holmes, Patricia O. Shafer, Joseph I. Sirven, and Joan K. Austin
Do Better-Rated Navigators Improve Patient Satisfaction with Cancer-Related Care., Pascal Jean-Pierre, Paul C. Winters, Jack A. Clark, Victoria Warren-Mears, Kristen J. Wells, Douglas M. Post, Nancy L. LaVerda, Mary A. Van Duyn, and Kevin Fiscella
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern, Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf, Patrick Ferreira, Roelineke J. Lunsing, Leo G. Nijtmans, Anne Mitchell, Hugo A. Arroyo, Dietz Rating, Adeline Vanderver, Carola G. van Berkel, Truus E.M. Abbink, Peter Heutink, and Marjo S. van der Knaap
Low-frequency electrical stimulation of a fiber tract in temporal lobe epilepsy, Mohamad Z. Koubeissi, Emine Kahriman, Tanvir U. Syed, Jonathan P. Miller, and Dominique M. Durand
Racial and socioeconomic disparities in epilepsy in the District of Columbia, Barbara L. Kroner, Mansour Fahimi, Anne Kenyon, David J. Thurman, and William D. Gaillard
Validation of a migraine interview for children and adolescents, Tarannum Lateef, Lihong Cui, Leanne Heaton, Erin F. Nakamura, Jinhui Ding, Sameer Ahmed, and Kathleen R. Merikangas
A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities, Monica E. Lemmon, Bennett Lavenstein, Carolyn D. Applegate, Ada Hamosh, Aylin Tekes, and Harvey S. Singer
Histone deacetylase inhibitors are neuroprotective and preserve NGF-mediated cell survival following traumatic brain injury, Jie Lu, Jason Frerich, L. Christine Turtzo, Siqi Li, Jeffrey Chiang, Chunzhang Yang, Xiaoping Wang, Chao Zhang, Chenxi Wu, Zhongchan Sun, Gang Niu, Zhengping Zhuang, Roscoe O. Brady, and Xiaoyuan Chen
Imaging findings associated with cognitive performance in primary lateral sclerosis and amyotrophic lateral sclerosis, Avner Meoded, Justin Y. Kwan, Tracy L. Peters, Edward D. Huey, Laura E. Danielian, Edythe Wiggs, Arthur Morrissette, Tianxia Wu, James W. Russell, Elham Bayat, Jordan Grafman, and Mary Kay Floeter
Radiation, atherosclerotic risk factors, and stroke risk in survivors of pediatric cancer: A report from the childhood cancer survivor study., Sabine Mueller, Heather J. Fullerton, Wendy Leisenring, Rita E. Weathers, Marilyn Stovall, Gregory T. Armstrong, Robert E. Goldsby, Roger J. Packer, Charles A. Sklar, Daniel C. Bowers, Leslie L. Robison, Kevin R. Krull, and Kayla Stratton
Evidence-based review and assessment of botulinum neurotoxin for the treatment of secretory disorders, Markus Naumann, Dirk Dressler, Mark Hallett, Joseph Jankovic, Giampetro Schiavo, Karen R. Segal, and Daniel R. Truong
Innervation of the placenta and uterus: Competition between cytotrophoblasts and nerves?, P. G. Nelson and Karin B. Nelson
Survival and secondary tumors in children with medulloblastoma receiving radiotherapy and adjuvant chemotherapy: Results of Children's Oncology Group trial A9961, Roger J. Packer, Tianni Zhou, Emi Holmes, Gilbert Vezina, and Amar Gajjar
Monoamine neurotransmitter deficiencies, Phillip L. Pearl
Partial pyridoxine responsiveness in PNPO deficiency, Phillip L. Pearl, Keith Hyland, J. Chiles, Colleen L. McGavin, Yuezhou Yu, and Donald Taylor
Histological predictors of outcome in ependymoma are dependent on anatomic site within the central nervous system, Aditya Raghunathan, Khalida Wani, Terri S. Armstrong, Elizabeth Vera-Bolanos, Maryam Fouladi, Roger J. Packer, and +17 additional authors
Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1, Lori A. Ramkissoon, Peleg M. Horowitz, Justin M. Craig, Shakti H. Ramkissoon, Benjamin E. Rich, Steven E. Schumacher, Aaron McKenna, Michael S. Lawrence, Roger J. Packer, and + 28 additional authors
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study, Gillian I. Rice, Gabriella M.A. Forte, Marcin Szynkiewicz, Diana S. Chase, Alec Aeby, Adeline Vanderver, and +56 additional authors
Introduction: Past, present, and future care of individuals with XXY, Carole A. Samango-Sprouse and Andrea L. Gropman
Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?, Carole A. Samango-Sprouse, Emily Stapleton, Teresa Sadeghin, and Andrea L. Gropman
Neurodevelopmental disorders and genetic testing: Current approaches and future advances, Elliott H. Sherr, David J. Michelson, Michael I. Shevell, John B. Moeschler, Andrea L. Gropman, and Stephen Ashwal
Measuring vincristine-induced peripheral neuropathy in children with acute lymphoblastic leukemia, Ellen M. Smith, Lang Li, Raymond J. Hutchinson, Richard Ho, W. Bryan Burnette, Elizabeth M. Wells, Celia Bridges, and Jamie Renbarger
A multicenter outcomes analysis of children with severe viral respiratory infection due to human metapneumovirus, Michael C. Spaeder, Jason W. Custer, Melania M. Bembea, Devon O. Aganga, Xiaoyan Song, and Susanna Scafidi
Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY, Courtney Sprouse, Laura Tosi, Emily Stapleton, Andrea L. Gropman, Francie L. Mitchell, Rick Peret, Teresa Sadeghin, Kathryn Haskell, and Carole A. Samango-Sprouse
Fluency patterns in narratives from children with localization related epilepsy, Mara E. Steinberg, Nan B. Ratner, William Gaillard, and Madison Berl
Narrative abilities of children with epilepsy, Amy Strekas, Nan B. Ratner, Madison Berl, and William D. Gaillard
Brain hyperconnectivity in children with autism and its links to social deficits, Kaustubh Supekar, Lucina Q. Uddin, Amirah Khouzam, Jennifer Phillips, William D. Gaillard, Lauren Kenworthy, Benjamin E. Yerys, Chandan J. Vaidya, and Vinon Menon
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity, Ryan J. Taft, Adeline Vanderver, Richard J. Leventer, Stephen Damiani, Cas Simons, Sean M. Grimmond, David Miller, Johanna L. Schmidt, and +16 additional authors
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
Developmental and psychiatric presentations of inherited metabolic disorders, Sinan Turnacioglu and Andrea L. Gropman
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
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
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
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
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
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
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
Metabolic causes of epileptic encephalopathy, Joe Yuezhou Yu and Phillip L. Pearl
Submissions from 2012
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
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis, Nneamaka B. Agochukwu, Benjamin D. Solomon, Andrea L. Gropman, and Maximilian Muenke
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
Neurological complications in plasma cell dyscrasias, Elham Bayat and John J. Kelly
Echocardiography screening for rheumatic heart disease in Ugandan schoolchildren, Andrea Beaton, Emmy Okello, Peter Lwabi, Charles Mondo, Robert McCarter, and Craig Sable
Medical and surgical treatment for ocular myasthenia, Michael Benatar and Henry J. Kaminski
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
Bladder dysfunction in peripheral neuropathies, Ahmet Z. Burakgazi, Bander Alsowaity, Zeynep Aydin Burakgazi, Dogan Unal, and John J. Kelly
The electrodiagnostic sensitivity of proximal lower extremity muscles in the diagnosis of L5 radiculopathy, Ahmet Z. Burakgazi, John J. Kelly, and Perry Richardson
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
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
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
Classification and definition of seizures and epilepsy syndromes in childhood, Susan E. Combs and Phillip L. Pearl
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
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
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
Patterns of brain injury in inborn errors of metabolism, Andrea L. Gropman
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
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
Vivid recollection of a past traumatic event: a rare manifestation of temporal lobe seizures., Mohamad Z. Koubeissi
Vivid recollection of a past traumatic event: rare manifestation of temporal lobe seizures, Mohamad Z. Koubeissi
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