Submissions from 2012


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


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


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


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


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


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


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


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

CSF opening pressure in children with optic nerve head edema, R.A. Avery, D.J. Licht, S.S. Shah, and J.W. Huh

The saccadic and neurological deficits in type 3 Gaucher disease, W Benko, M Ries, EA Wiggs, and RO Brady

Research challenges in central nervous system manifestations of inborn errors of metabolism, PI Dickson, AR Pariser, SC Groft, and RW Ishihara

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy, E.R. Freilich, J.M. Jones, W.D. Gaillard, and J.A. Conry

FMRI language dominance and FDG-PET hypometabolism, W.D. Gaillard, M.M. Berl, E.S. Duke, and E. Ritzl

Epilepsy imaging study guideline criteria: commentary on diagnostic testing study guidelines and practice parameters., WD Gaillard and JH. Cross

Epilepsy imaging study guideline criteria: Commentary on diagnostic testing study guidelines and practice parameters, W.D. Gaillard, J.H. Cross, J.S. Duncan, and H. Stefan

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation: importance of DNA collection for post-mortem diagnosis., AL Gropman

Racial disparities in tissue plasminogen activator treatment rate for stroke: a population-based study., AW Hsia, DF Edwards, LB Morgenstern, and JJ Wing

Re: Practice parameters in myasthenia gravis, HJ Kaminski, G Cutter, and RL Ruff

TGIF mutations in human holoprosencephaly: Correlation between genotype and phenotype, AA Keaton, BD Solomon, EF Kauvar, and KB El-Jaick

Headaches and sleep problems among adults in the United States: Findings from the National Comorbidity Survey-Replication Study, T Lateef, S Swanson, L Cui, and K Nelson

Common data elements in epilepsy research: Development and implementation of the NINDS epilepsy CDE project, DW Loring, DH Lowenstein, NM Barbaro, and BE Fureman

Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease, J Lu, C Yang, M Chen, and DY Ye

Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the quality standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society, DJ Michelson, MI Shevell, EH Sherr, and JB Moeschler

Risk stratification of medulloblastoma: a paradigm for future childhood brain tumor management strategies., RJ Packer

Herbs in epilepsy: evidence for efficacy, toxicity, and interactions., PL Pearl, IM Drillings, and JA Conry

Assessment of genetics knowledge and skills in medical students: Insight for a clinical neurogenetics curriculum, PL Pearl, JM Pettiford, SE Combs, and A Heffron

Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism, P.L. Pearl, L. Shukla, W.H. Theodore, and C. Jakobs

Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism, PL Pearl, L Shukla, WH Theodore, and C Jakobs

New frontiers in neuroimaging applications to inborn errors of metabolism., MJ Prust, AL Gropman, and N Hauser

GFAP mutations, age at onset, and clinical subtypes in Alexander disease., M Prust, J Wang, and H Morizono

Treatment of Refractory Status Epilepticus in Childhood, JM Schreiber and WD Gaillard

Cancer burden in the HIV-infected population in the United States., MS Shiels, RM Pfeiffer, MH Gail, and HI Hall

Failure of a Vagus Nerve Stimulator following a Nearby Lightning Strike, GE Terry, JA Conry, E Taranto, and A Yaun

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy, M T+Otreault, K Choquet, S Orcesi, and D Tonduti

Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function, C Yang, AR Asthagiri, RR Iyer, and J Lu

Submissions from 2010

Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency, MT Acosta, J Munasinghe, PL Pearl, and M Gupta

Region-specific radiotherapy and neuropsychological outcomes in adult survivors of childhood CNS malignancies, GT Armstrong, N Jain, W Liu, and TE Merchant

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31, G Bernard, I Thiffault, M Tetreault, and ML Putorti

Respiratory muscle weakness in peripheral neuropathies, AZ Burakgazi

Treatment of epilepsy in children with developmental disabilities, D Depositario-Cabacar and T Zelleke

Phase I Trial of Lapatinib in Children With Refractory CNS Malignancies: A Pediatric Brain Tumor Consortium Study, M Fouladi, CF Stewart, SM Blaney, and A Onar-Thomas

Utility of functional MRI in pediatric neurology, E. R. Freilich and W. D. Gaillard

The use of Neuroimaging in the Diagnosis of Mitochondrial Disease, SD Friedman, DWW Shaw, G Ishak, and AL Gropman

A phase I and biology study of gefitinib and radiation in children with newly diagnosed brain stem gliomas or supratentorial malignant gliomas, JR Geyer, CF Stewart, M Kocak, and A Broniscer

Late-Occurring Neurologic Sequelae in Adult Survivors of Childhood Acute Lymphoblastic Leukemia: A Report From the Childhood Cancer Survivor Study, RE Goldsby, Q Liu, PC Nathan, and DC Bowers

Brain imaging in urea cycle disorders, A Gropman

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: New insights and diagnostic approaches, AL Gropman and ML Batshaw

Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency, A.L. Gropman, B. Gertz, K. Shattuck, and I.L. Kahn

Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome, AL Gropman, A Rogol, I Fennoy, and T Sadeghin

Lack of Efficacy of Bevacizumab Plus Irinotecan in Children With Recurrent Malignant Glioma and Diffuse Brainstem Glioma: A Pediatric Brain Tumor Consortium Study, S Gururangan, SN Chi, TY Poussaint, and A Onar-Thomas

Carbonic Anhydrase I, II, and VI, Blood Plasma, Erythrocyte and Saliva Zinc and Copper Increase After Repetitive Transcranial Magnetic Stimulation, R. I. Henkin, S. J. Potolicchio, L. M. Levy, and R. Moharram

Carbonic anhydrase I, II, and VI, blood plasma, Erythrocyte and saliva zinc and copper increase after repetitive transcraniel magetic stimulation, R. I. Henkin, S. J. Potolicchio, L. M. Levy, and R. Moharram

New findings in the study of neuromuscular disorders, JJ Kelly

Neuropathology in Succinic Semialdehyde Dehydrogenase Deficiency, I. Kneer, K. M. Gibson, G. Murdoch, and G. S. Salomons

Uveitis and white matter abnormalities in pediatric sarcoidosis, AK Miller, Z Khademian, and PL Pearl

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases, F. Mochel, U. F. H. Engelke, B. Yang, and N. H. McNeill

Headache and Biomarkers Predictive of Vascular Disease in a Representative Sample of US Children, KB Nelson, AK Richardson, J He, and TM Lateef

Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts, M.S. Oldham, J.W. vanMeter, K.F. Shattuck, and S.D. Cederbaum

Radiation therapy for pediatric low-grade gliomas: Survival and sequelae, RJ Packer

Central Nervous System Tumors, R. J. Packer, T. MacDonald, and G. Vezina

Bull's-eye Hemorrhage. A Late Complication of Gamma Knife Radiosurgery, TL Rothstein

Update on the Electrophysiologic Approach to Patients in Anoxic Coma, TL Rothstein

Magnetic resonance imaging pattern recognition in hypomyelinating disorders, ME Steenweg, A Vanderver, S Blaser, and A Bizzi

Ocular Late Effects in Childhood and Adolescent Cancer Survivors: A Report From the Childhood Cancer Survivor Study, KF Whelan, K Stratton, T Kawashima, and JW Waterbor

Linear Clinical Progression, Independent of Age of Onset, in Niemann-Pick Disease, Type C, NM Yanjanin, JI Velez, A Gropman, and K King

Submissions from 2009

Diagnostic criteria for late-onset (childhood and adult) Pompe disease, M. T. Al-Lozi, A. A. Amato, R. J. Barohn, and E. J. Cupler

Long-Term Outcomes Among Adult Survivors of Childhood Central Nervous System Malignancies in the Childhood Cancer Survivor Study, G. T. Armstrong, Q. Liu, Y. Yasui, and S. J. Huang

Development of a Pediatric Neurocritical Care Service, M. J. Bell, J. Carpenter, A. K. Au, and R. F. Keating

Bilateral and independent Broca areas confirmed by Wada test and functional magnetic resonance imaging, T. J. Biega, L. M. Levy, F. Bannout, and W. D. Gaillard

Clobazam in the treatment of Lennox-Gastaut syndrome, J. A. Conry, Y. T. Ng, J. M. Paolicchi, and L. Kernitsky

Acute and chronic magnetic resonance imaging of human hperesvirus-6 associated encephalitis, J. R. Crawford, T. Chang, B. L. Lavenstein, and B. Mariani

Medulloblastoma associated with novel PTCH mutation as primary manifestation of Gorlin syndrome, J. R. Crawford, B. R. Rood, C. T. Rossi, and G. Vezina

Primary spinal cord tumors of childhood: Effects of clinical presentation, radiographic features and pathology on survival, J. R. Crawford, A. Zaninovic, M. Santi, and E. J. Rushing

Guidelines for imaging infants and children with recent-onset epilepsy, W. D. Gaillard, C. Chiron, JH Cross, and AS Harvey

Obesity in the Pediatric Headache Population: A Multicenter Study, A. D. Hershey, S. W. Powers, T. D. Nelson, and M. A. Kabbouche

Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic, D. T. Hsieh and P. L. Pearl

Phase I Study of SU5416, a Small Molecule Inhibitor of the Vascular Endothelial Growth Factor Receptor (VEGFR) in Refractory Pediatric Central Nervous System Tumors, M. W. Kieran, J. G. Supko, D. Wallace, and R. Fruscio

Headache in Young Children in the Emergency Department: Use of Computed Tomography, T. M. Lateef, M. Grewal, W. McClintock, and J. Chamberlain

Headache in a National Sample of American Children: Prevalence and Comorbidity, T. M. Lateef, K. R. Merikangas, J. P. He, and A. Kalaydjian

Functional Connectivity of the Inferior Frontal Cortext Changes with Age in Children with Autism Spectrum Disorders: A fcMRI Study of Response Inhibition, P. S. Lee; B. E. Verys; Rosa, A. Della; and W. D. Gaillard

Limitations to plasticity of language network reorganization in localization related epilepsy, J. Mbwana, M. M. Berl, E. K. Ritzl, and L. Rosenberger

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA), F. Mochel, F. Sedel, A. Vanderver, and U. F. H. Engelke

Diffusion Tensor Imaging in Arginase Deficiency Reveals Damage to Corticopinal Tracts, M. S. Oldham, J. W. vanMeter, K. F. Shattuck, and S. D. Cederbaum

Primary postoperative chemotherapy without radiotherapy for intracranial ependymoma in children.[comment], R. J. Packer

Objective response of multiply recurrent low-grade gliomas to bevacizumab and irinotecan, R. J. Packer, R. Jakacki, M. R. Horn, and G. Vezina

Neurological problems of jazz legends, P. L. Pearl

New treatment paradigms in neonatal metabolic epilepsies, P. L. Pearl

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men, P. L. Pearl, K. M. Gibson, M. A. Cortez, and Y. Wu

Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men, P.L. Pearl, K.M. Gibson, M.A. Cortez, and Y. Wu

Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency, P. L. Pearl, K. M. Gibson, Z. Quezado, and I. Dustin

Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency, P.L. Pearl, K.M. Gibson, Z. Quezado, and I. Dustin

Introducing a Neurogenetics Curriculum into the Neurology Medical School Clerkship, P. L. Pearl, J. M. Pettiford, A. Heffron, and S. Healton

Cerebral MRI abnormalities associated with vigabatrin therapy, P. L. Pearl, L. G. Vezina, R. l. P. Saneto, and E. Molloy-Wells

Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response, G. I. Rice, J. Bond, A. Asipu, and A. Vanderver

Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy, L. R. Rosenberger, J. Zeck, M. M. Berl, and E. N. Moore

The Utility of Somatosensory Evoked Potentials in Anoxic-Ischemic Encephalopathy, TL Rothstein

Status epilepticus in children, R. K. Singh and W. D. Gaillard