Submissions from 2015
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
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
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
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
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.
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
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
CT Evolution of Hematoma and Surrounding Hypodensity in a Cadaveric Model of Intracerebral Hemorrhage., Shahram Majidi, Basit Rahim, Sarwat I Gilani, Waqas I Gilani, Malik M Adil, and Adnan I Qureshi
A 12-week open-label, multicenter study evaluating the safety and patient-reported efficacy of sodium oxybate in patients with narcolepsy and cataplexy, Mortimer Mamelak, Todd Swick, Helene Emsellem, Jacques Montplasiir, Chinglin Lai, and Jed Black
Elevated Cerebrospinal Fluid Opening Pressure in a Pediatric Demyelinating Disease Cohort., Sona Narula, Grant T. Liu, Robert A. Avery, Brenda Banwell, and Amy T. Waldman
Clobazam is equally safe and efficacious for seizures associated with Lennox-Gastaut syndrome across different age groups: Post hoc analyses of short- and long-term clinical trial results., Yu-Tze Ng, Joan Conry, Wendy G. Mitchell, Jeffrey Buchhalter, Jouko Isojarvi, Deborah Lee, Rebecca Drummond, and Steve Chung
Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency., Ileana Pacheco-Colón, Stuart D. Washington, Courtney Sprouse, Guy Helman, Andrea L. Gropman, and John W. VanMeter
Clinicopathology of diffuse intrinsic pontine glioma and its redefined genomic and epigenomic landscape., Eshini Panditharatna, Kurt Yaeger, Lindsay B Kilburn, Roger J Packer, and Javad Nazarian
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society., Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Andrea Gropman, and + 15 more
Ethics in Rehabilitation: Access to Prosthetics and Quality Care Following Amputation., Colonel Paul F Pasquina, Antonio J Carvalho, and Terrence Patrick Sheehan
Reproducibility of retinal nerve fiber layer thickness measures using eye tracking in children with nonglaucomatous optic neuropathy, Raneem Rajjoub, Carmelina Trimboli-Heidler, Roger J. Packer, and Robert A. Avery
A Genome-wide Association Study of Myasthenia Gravis., Alan E. Renton, Hannah A. Pliner, Carlo Provenzano, Amelia Evoli, Roberta Ricciardi, Henry J. Kaminski, and +49 additional authors
Targeted leukodystrophy diagnosis based on charges and yields for testing., Jackson Richards, E Kent Korgenski, Ryan J Taft, Adeline Vanderver, and Joshua L Bonkowsky
Proceedings of the Seventh International Workshop on Advances in Electrocorticography., Anthony Ritaccio, Riki Matsumoto, Martha J. Morrell, Kyousuke Kamada, Mohamad Z. Koubeissi, and + 6 more
Vismodegib Exerts Targeted Efficacy Against Recurrent Sonic Hedgehog-Subgroup Medulloblastoma: Results From Phase II Pediatric Brain Tumor Consortium Studies PBTC-025B and PBTC-032., Giles W. Robinson, Brent A. Orr, Gang Wu, Sridharan Gururangan, Tong Lin, Roger J. Packer, and et al.
Efficacy and safety of perampanel in adolescent patients with drug-resistant partial seizures in three double-blind, placebo-controlled, phase III randomized clinical studies and a combined extension study., William Rosenfeld, Joan Conry, Lieven Lagae, Guntis Rozentals, Haichen Yang, Randi Fain, Betsy Williams, Dinesh Kumar, Jin Zhu, and Antonio Laurenza
How clinical trials of myasthenia gravis can inform pre-clinical drug development., Anna Rostedt Punga, Henry J. Kaminski, David P. Richman, and Michael Benatar
Medulloblastoma: Toward Biologically Based Management., Ayman Samkari, Jason C. White, and Roger J. Packer
Teaching NeuroImages: Giant fetal arachnoid cyst with favorable neurologic outcome., Laura Sanapo, Luca Bartolini, Taeun Chang, and Gilbert Vezina
Time from convulsive status epilepticus onset to anticonvulsant administration in children., Iván Sánchez Fernández, Nicholas S. Abend, Satish Agadi, Sookee An, Ravindra Arya, William D. Gaillard, and et al.
Reduced language connectivity in pediatric epilepsy, Leigh N. Sepeta, Louise J. Croft, Lauren A. Zimmaro, Elizabeth S. Duke, Virginia K. Terwilliger, Benjamin E. Yerys, Xiaozhen You, William D. Gaillard, and Madison M. Berl
Prolonged Complete Response in a Pediatric Patient With Primary Peripheral T-Cell Lymphoma of the Central Nervous System., Haneen Shalabi, Anne Angiolillo, Gilbert Vezina, James L Rubenstein, Stefania Pittaluga, Mark Raffeld, and Leigh Marcus
Proteomic profiling of high risk medulloblastoma reveals functional biology, Jerome A. Staal, Ling San Lau, Huizhen Zhang, Wendy J. Ingram, Andrew R. Hallahan, Roger J. Packer, Brian R. Rood, Kristy J. Brown, and +6 additional authors
Differences of Intracranial Electrical Stimulation Thresholds in the Human Brain., C. Stephani and Mohamad Z. Koubeissi
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III, Isabelle Thiffault, Nicole I. Wolf, Diane Forget, Kether Guerrero, Adeline Vanderver, Cas Simons, Ryan J. Taft, and +17 additional authors
MED23-associated intellectual disability in a non-consanguineous family., Aditi Trehan, Jacqueline M. Brady, Valerie Maduro, William P. Bone, Andrea L. Gropman, Gilbert Vezina, and +10 additional authors
Ubiquitous l1 mosaicism in hippocampal neurons., Kyle R. Upton, Daniel J. Gerhardt, J. Samuel Jesuadian, Sandra R. Richardson, Francisco J. Sánchez-Luque, Gabriela O. Bodea, Adam D. Ewing, Carmen Salvador-Palomeque, Marjo S. van der Knaap, Paul M. Brennan, Adeline Vanderver, and Geoffrey J. Faulkner
Italian neuropsychology in the second half of the twentieth century., Giuseppe Vallar, François Boller, Dario Grossi, and Guido Gainotti
Italian neuropsychology in the second half of the twentieth century., Giuseppe Vallar, François Boller, Dario Grossi, and Guido Gainotti
Case definition and classification of leukodystrophies and leukoencephalopathies., Adeline Vanderver, Morgan Prust, Davide Tonduti, Fanny Mochel, Heather M. Hussey, Guy Helman, James Garbern, Florian Eichler, Pierre Labauge, Patrick Aubourg, Diana Rodriguez, Marc C. Patterson, Johan L.K. Van Hove, Johanna Schmidt, Nicole I. Wolf, Odile Boespflug-Tanguy, Raphael Schiffmann, and Marjo S. van der Knaap
The piriform, perirhinal, and entorhinal cortex in seizure generation., Marta S Vismer, Patrick A Forcelli, Mark D Skopin, Karen Gale, and Mohamad Z. Koubeissi
The piriform, perirhinal, and entorhinal cortex in seizure generation, Marta S. Vismer, Patrick A. Forcelli, Mark D. Skopin, Karen Gale, and Mohamad Z. Koubeissi
Cognitive and behavior deficits in sickle cell mice are associated with profound neuropathologic changes in hippocampus and cerebellum., Li Wang, Luis E F Almeida, Celia M de Souza Batista, Alfia Khaibullina, Nuo Xu, Sarah Albani, Kira A Guth, Ji Sung Seo, Martha Quezado, and Zenaide M. N. Quezado
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
Treatment of infants with epilepsy: Common practices around the world., Jo M Wilmshurst, Richard Burman, William D. Gaillard, and J Helen Cross
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics., Jo M Wilmshurst, William D. Gaillard, Kollencheri Puthenveettil Vinayan, Tammy N. Tsuchida, Perrine Plouin, and +11 additional authors
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder., Nicole I. Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard Leventer, Amy Pizzino, Cas Simons, Truus E.M. Abbink, Ryan J. Taft, Marjo S. van der Knaap, and Adeline Vanderver
Assessment of MRI-Based Automated Fetal Cerebral Cortical Folding Measures in Prediction of Gestational Age in the Third Trimester., J Wu, S P Awate, D J Licht, C Clouchoux, Adre J. Du Plessis, B B Avants, A Vossough, J C Gee, and Catherine Limperopoulos
The emerging role of NG2 in pediatric diffuse intrinsic pontine glioma., Sridevi Yadavilli, Joseph Scafidi, Oren J. Becher, Amanda M. Saratsis, Rebecca L. Hiner, Madhuri Kambhampati, Santi Mariarita, Tobey J. MacDonald, Kari-Elise Codispoti, Suresh N. Magge, Jyoti K. Jaiswal, Roger J. Packer, and Javad Nazarian
Neural Correlates of Set-Shifting in Children With Autism., Benjamin E. Yerys, Ligia Antezana, Rachel Weinblatt, Kathryn F. Jankowski, John Strang, Chandan J. Vaidya, Robert T. Schultz, William D. Gaillard, and Lauren Kenworthy
GABAergic regulation of cerebellar NG2 cell development is altered in perinatal white matter injury., Marzieh Zonouzi, Joseph Scafidi, Peijun Li, Brian McEllin, Jorge Edwards, Jeffrey L. Dupree, Lloyd Harvey, Dandan Sun, Christian A. Hübner, Stuart G. Cull-Candy, Mark Farrant, and Vittorio Gallo
Submissions from 2014
Pure T7 sensory level as an isolated manifestation of Guillain-Barré syndrome, Tariq B. Alfahad and John J. Kelly
Acute cranial neuropathies heralding neurosyphilis in human immunodeficiency virus-infected patient., Saeed Alqahtani
Reference range of cerebrospinal fluid opening pressure in children: Historical overview and current data, Robert A. Avery
Intra- and inter-visit reproducibility of ganglion cell-inner plexiform layer measurements using handheld optical coherence tomography in children with optic pathway gliomas, Robert A. Avery, Avital Cnaan, Joel S. Schuman, Chieh-Li Chen, Natalie C. Glaug, Roger J. Packer, Graham E. Quinn, and Hiroshi Ishikawa
Handheld optical coherence tomography during sedation in young children with optic pathway gliomas, Robert A. Avery, Eugene I. Hwang, Hiroshi Ishikawa, Maria T. Acosta, Kelly A. Hutcheson, Domiciano Santos, Dina Zand, Lindsay B. Kilburn, Kenneth Rosenbaum, Brian R. Rood, Joel S. Schuman, and Roger J. Packer
Position statement: National Gaucher Foundation Medical Advisory Board, January 7, 2014, John A. Barranger, Roscoe O. Brady, Gregory A. Grabowski, Henry Mankin, Pramod K. Mistry, and Neal J. Weinreb
Phase 2 study of safety and efficacy of nimotuzumab in pediatric patients with progressive diffuse intrinsic pontine glioma, Ute Bartels, Johannes Wolff, Lia Gore, Ira Dunkel, Stephen Gilheeney, Roger J. Packer, and +12 additional authors
Characterization of atypical language activation patterns in focal epilepsy, Madison M. Berl, Lauren A. Zimmaro, Omar I. Khan, Irene Dustin, Eva Ritzl, Elizabeth S. Duke, Leigh N. Sepeta, Susumu Sato, William H. Theodore, and William D. Gaillard
Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach., Thangamadhan Bosemani, Cristina Anghelescu, Eugen Boltshauser, Alexander H Hoon, Phillip L. Pearl, Dana Craiu, Michael V. Johnston, Thierry A.G.M. Huisman, and Andrea Poretti
Prevalence and spectrum of in utero structural brain abnormalities in fetuses with complex congenital heart disease, Marie Brossard-Racine, Adre J. Du Plessis, Gilbert Vezina, Richard L. Robertson, Dorothy I. Bulas, Iordanis E. Evangelou, Mary T. Donofrio, D. Freeman, and Catherine Limperopoulos
Underrecognized anomaly: Proximal Martin-Gruber anastomosis at the elbow, Ahmet Z. Burakgazi, Mary Russo, Elham Bayat, and Perry Richardson
The sensitivity comparison of bar electrode and disposable ring electrode for recording of lateral femoral cutaneous nerve, Ahmet Z. Burakgazi, Mary Russo, and Perry Richardson
Conventional (continuous) EEG monitoring in the NICU, Taeun Chang and Tammy Tsuchida
Stable dosages of clobazam for Lennox-Gastaut syndrome are associated with sustained drop-seizure and total-seizure improvements over 3 years, Joan A. Conry, Yu-Tze Ng, Lydia Kernitsky, Wendy G. Mitchell, Rima Veidemanis, Rebecca Drummond, Jouko Isojarvi, Deborah Lee, and Juliann M. Paolicchi
Vulnerability of the ventral language network in children with focal epilepsy, Louise J. Croft, Torsten Baldeweg, Leigh Sepeta, Lauren Zimmaro, Madison M. Berl, and William D. Gaillard
Therapies in Aicardi-Goutières syndrome, Y. J. Crow, Adeline Vanderver, Simona Orcesi, Taco W. Kuijpers, and Gillian I. Rice
Platelets are efficient and protective depots for storage, distribution, and delivery of lysosomal enzyme in mice with Hurler Syndrome, Mei Dai, Jingfen Han, Salim S. El-Amouri, Roscoe O. Brady, and Dao Pan
Novel (ovario) leukodystrophy related to AARS2 mutations, Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Adeline Vanderver, and +22 additional authors
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation, Scott T. Demarest, Matthew T. Whitehead, Sinan Turnacioglu, Phillip L. Pearl, and Andrea L. Gropman
Neuromuscular junction as Achilles' heel: Yet another autoantibody?, Daniel B. Drachman and Henry J. Kaminski
The effects of pediatric epilepsy on a language connectome, Anas Salah Eddin, Jin Wang, Wensong Wu, Saman Sargolzaei, Bruce Bjornson, Richard A. Jones, William D. Gaillard, and Malek Adjouadi
Impact of tumor location and pathological discordance on survival of children with midline high-grade gliomas treated on Children's Cancer Group high-grade glioma study CCG-945., David D. Eisenstat, Ian F. Pollack, Alain Demers, Mark V. Sapp, Pascal Lambert, James D. Weisfeld-Adams, Peter C. Burger, Floyd Gilles, Richard L. Davis, Roger J. Packer, James M. Boyett, and Jonathan L. Finlay
Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG), Ivan Sanchez Fernandez, Nicholas S. Abend, Satish Agadi, Sookee An, Ravindra Arya, Jessica L. Carpenter, Kevin E. Chapman, William D. Gaillard, Tracy A. Glauser, David B. Golstein, Joshua L. Goldstein, Howard P. Goodkin, Cecil D. Hahn, Erin L. Heinzen, Mohamad A. Mikati, Katrina Peariso, John P. Pestian, Margie Ream, James J. Riviello, Robert C. Tasker, Korwyn Williams, and Tobias Loddenkemper
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: Identification through whole exome sequencing and management strategies, Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, and Dina Zand
Implicit sequence learning in people with Parkinson's disease, Katherine R. Gamble, Thomas J. Cummings, Steven E. Lo, Pritha T. Ghosh, James H. Howard, and Darlene V. Howard
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease., Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Janet S. Soul, Miriam Bloom, Sarah H. Evans, Yu-ichi Goto, Ljubica Caldovic, Grace M. Hobson, and Adeline Vanderver
Cerebral pressure passivity in newborns with encephalopathy undergoing therapeutic hypothermia, Rathinaswamy B. Govindan, An Nguyen Massaro, Nickie N. Andescavage, Taeun Chang, and Adre J. Du Plessis
Neuroimaging in infants who present with inborn errors of metabolism, Andrea L. Gropman
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation, Eline M. Hamilton, Emiel Polder, Adeline Vanderver, Sakkubai Naidu, Raphael Schiffman, +11 additional authors, and +31 additional collaborators
Astrocyte-derived endothelin-1 inhibits remyelination through notch activation, Timothy R. Hammond, Ana Gadea, Jeff Dupree, Christophe Kerninon, Brahim Nait-Oumesmar, Adan Aguirre, and Vittorio Gallo
Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases, Sungpil Han, Yen Chih Lin, Tianxia Wu, Alan D. Salgardo, Ina Mexhitaj, Simone C. Wuest, Elena Romm, Joan Ohayon, Raphaela Goldbach-Mansky, Adeline Vanderver, Adriana Marques, Camilo Toro, Peter Williamson, Irene Cortese, and Bibiana Bielekova
Analysis of the Na+/Ca2+ Exchanger Gene Family within the Phylum Nematoda, Chao He and Damien M. O'Halloran
The urea cycle disorders, Guy Helman, Ileana Pacheco-Colon, and Andrea L. Gropman
Widening phenotypic spectrum of AADC deficiency, a disorder of dopamine and serotonin synthesis, Guy Helman, Maria Belen Pappa, and Phillip L. Pearl
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
The third leg of neurology training: the business of medicine., Henry J. Kaminski and Neil Busis
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: A clinical report, Jessica E. King, Amy Dexter, Inder Gadi, Val Zvereff, Meaghan Martin, Miriam Bloom, Adeline Vanderver, Amy Pizzino, and Johanna L. Schmidt
Electrical stimulation of a small brain area reversibly disrupts consciousness, Mohamad Z. Koubeissi, Fabrice Bartolomei, Abdelrahman Beltagy, and Fabienne Picard
Lacosamide-induced rash, Mohamad Z. Koubeissi, Marta Vismer, and Alison Ehrlich
Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick Disease type C1, Ryan Lee, Kalyna Apkarian, Eun Sol Jung, Nicole Yanjanin, Shoko Yoshida, Susumu Mori, Jina Park, Andrea L. Gropman, Eva H. Baker, and Forbes D. Porter
Management of congenital fourth cranial nerve palsy, William P. Madigan, James D. Reynolds, Mitchell Strominger, and Rudolph S. Wagner
Advances in the management of low-grade gliomas, Rao A.A. Nageswara and Roger J. Packer
Parental and physician attitudes toward medulloblastoma treatment, Roger J. Packer
Phase I and pharmacokinetic trial of PTC299 in pediatric patients with refractory or recurrent central nervous system tumors: a PBTC study, Roger J. Packer, Brian R. Rood, David Turner, Clinton F. Stewart, Michael J. Fisher, Christopher Smith, Tina Young-Pouissant, Stewart Goldman, Rishi Lulla, Anu Banerjee, Alan Pollack, Larry E. Kun, Arzu Onar-Thomas, Shengjie Wu, James M. Boyett, and Maryam Fouladi
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies., Sumit Parikh, Geneviève Bernard, Richard J. Leventer, Marjo S. van der Knaap, Johan van Hove, Amy Pizzino, Nathan H. McNeill, Guy Helman, Cas Simons, Johanna L. Schmidt, William B. Rizzo, Marc C. Patterson, Ryan J. Taft, and Adeline Vanderver
Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges, Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Andrea L. Gropman, Phillip L. Pearl, and +24 additional authors
Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: The distinction just got murkier, Phillip L. Pearl and Sidney M. Gospe
International telemedicine consultations for neurodevelopmental disabilities, Phillip L. Pearl, Craig A. Sable, Sarah Helen Evans, Joseph Knight, Parker Cunningham, Gaetano R. Lotrecchiano, Andrea L. Gropman, Sheela Stuart, Penny J. Glass, Anne Conway, Issam Ramadan, Tania Paiva, Mark L. Batshaw, and Roger J. Packer
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA, Phillip L. Pearl, John M. Schreiber, William H. Theodore, Robert J. McCarter, Emily S. Barrios, Joe Yu, Edythe Wiggs, Jianping He, and K. Michael Gibson
Metabolic Disorders Not to Miss, Phillip L. Pearl and Yuezhoujoe Yu
TUBB4A de novo mutations cause isolated hypomyelination, Amy Pizzino, Tyler Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Adeline Vanderver, and +15 additional authors
Reproducibility of retinal nerve fiber layer thickness measures using eye-tracking with spectral, Raneem D. Rajjob, Carmelina Trimboli-Heidler, Roger J. Packer, and Robert A. Avery
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11, Benoit Renvoise, Jaerak Chang, Rajat Singh, Sayuri Yonekawa, Edmond J. FitzGibbon, Ami Mankodi, Adeline Vanderver, Alice B. Schindler, Camilo Toro, William A. Gahl, Don J. Mahuran, Craig Blackstone, and Tyler Pierson
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling, Gillian I. Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella M.A. Forte, Beverley H. Anderson, Adeline Vanderver, and +47 additional authors