| # | Title | Journal | Year | Citations |
|---|
| 1 | Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria | Lancet Neurology, The | 2018 | 4,605 |
| 2 | Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management | Lancet Neurology, The | 2010 | 1,605 |
| 3 | Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 | Autophagy | 2021 | 1,430 |
| 4 | Analysis of shared heritability in common disorders of the brain | Science | 2018 | 1,085 |
| 5 | Anti–N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis in children and adolescents | Annals of Neurology | 2009 | 969 |
| 6 | The Human Phenotype Ontology in 2017 | Nucleic Acids Research | 2017 | 699 |
| 7 | The Human Phenotype Ontology in 2021 | Nucleic Acids Research | 2021 | 652 |
| 8 | MRI characteristics of neuromyelitis optica spectrum disorder | Neurology | 2015 | 523 |
| 9 | Amyloid-β plaques enhance Alzheimer's brain tau-seeded pathologies by facilitating neuritic plaque tau aggregation | Nature Medicine | 2018 | 433 |
| 10 | Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction | Nature Reviews Neuroscience | 2013 | 396 |
| 11 | Selective induction of astrocytic gliosis generates deficits in neuronal inhibition | Nature Neuroscience | 2010 | 393 |
| 12 | A yeast functional screen predicts new candidate ALS disease genes | Proceedings of the National Academy of Sciences of the United States of America | 2011 | 365 |
| 13 | Transduction characteristics of adeno-associated virus vectors expressing cap serotypes 7, 8, 9, and Rh10 in the mouse brain | Molecular Therapy | 2006 | 334 |
| 14 | Assessment of lesions on magnetic resonance imaging in multiple sclerosis: practical guidelines | Brain | 2019 | 303 |
| 15 | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy | Genetics in Medicine | 2016 | 299 |
| 16 | Preoperative cerebral blood flow is diminished in neonates with severe congenital heart defects | Journal of Thoracic and Cardiovascular Surgery | 2004 | 274 |
| 17 | Treatment of chiasmatic/hypothalamic gliomas of childhood with chemotherapy: An update | Annals of Neurology | 1988 | 260 |
| 18 | Sensitivity of Amplitude-Integrated Electroencephalography for Neonatal Seizure Detection | Pediatrics | 2007 | 255 |
| 19 | De novo LMNA mutations cause a new form of congenital muscular dystrophy | Annals of Neurology | 2008 | 255 |
| 20 | GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine | Annals of Clinical and Translational Neurology | 2014 | 248 |
| 21 | Occult Neonatal Seizures | Epilepsia | 1988 | 232 |
| 22 | Preoperative Brain Injury in Transposition of the Great Arteries Is Associated With Oxygenation and Time to Surgery, Not Balloon Atrial Septostomy | Circulation | 2009 | 230 |
| 23 | Differences in the experience of active and sham transcranial direct current stimulation | Brain Stimulation | 2012 | 230 |
| 24 | De novo variants in neurodevelopmental disorders with epilepsy | Nature Genetics | 2018 | 230 |
| 25 | Targeted treatment of migrating partial seizures of infancy with quinidine | Annals of Neurology | 2014 | 224 |
| 26 | Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | Human Genetics | 2002 | 220 |
| 27 | Preoperative cerebral blood flow is diminished in neonates with severe congenital heart defects | Journal of Thoracic and Cardiovascular Surgery | 2004 | 217 |
| 28 | MOG-IgG in NMO and related disorders: a multicenter study of 50 patients. Part 4: Afferent visual system damage after optic neuritis in MOG-IgG-seropositive versus AQP4-IgG-seropositive patients | Journal of Neuroinflammation | 2016 | 217 |
| 29 | The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease | Genetics in Medicine | 2011 | 216 |
| 30 | Serial Anti–Myelin Oligodendrocyte Glycoprotein Antibody Analyses and Outcomes in Children With Demyelinating Syndromes | JAMA Neurology | 2020 | 213 |
| 31 | Fasting versus Gradual Initiation of the Ketogenic Diet: A Prospective, Randomized Clinical Trial of Efficacy | Epilepsia | 2005 | 211 |
| 32 | Nonconvulsive seizures are common in critically ill children | Neurology | 2011 | 211 |
| 33 | Neuromyelitis optica and multiple sclerosis: Seeing differences through optical coherence tomography | Multiple Sclerosis Journal | 2015 | 209 |
| 34 | The Exact Ictal and Interictal Duration of Electroencephalographic Neonatal Seizures | Epilepsia | 1987 | 206 |
| 35 | Electroencephalographic monitoring during hypothermia after pediatric cardiac arrest | Neurology | 2009 | 205 |
| 36 | Mimics of Childhood Stroke: Characteristics of a Prospective Cohort | Pediatrics | 2006 | 203 |
| 37 | Intraventricular Brain Injection of Adeno-Associated Virus Type 1 (AAV1) in Neonatal Mice Results in Complementary Patterns of Neuronal Transduction to AAV2 and Total Long-Term Correction of Storage Lesions in the Brains of β-Glucuronidase-Deficient Mice | Journal of Virology | 2003 | 195 |
| 38 | Regional hippocampal alteration associated with cognitive deficit following experimental brain injury: A systems, network and cellular evaluation | Neuroscience | 2005 | 193 |
| 39 | Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery | Journal of Thoracic and Cardiovascular Surgery | 2003 | 190 |
| 40 | GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | 2017 | 190 |
| 41 | A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia | Archives of Neurology | 2010 | 187 |
| 42 | Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34 | American Journal of Human Genetics | 1998 | 182 |
| 43 | A Single Injection of an Adeno-Associated Virus Vector into Nuclei with Divergent Connections Results in Widespread Vector Distribution in the Brain and Global Correction of a Neurogenetic Disease | Journal of Neuroscience | 2007 | 182 |
| 44 | Dynamic Regulation of Synaptic GABA Release by the Glutamate-Glutamine Cycle in Hippocampal Area CA1 | Journal of Neuroscience | 2006 | 178 |
| 45 | Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females | Brain | 2009 | 178 |
| 46 | The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species | Nucleic Acids Research | 2020 | 178 |
| 47 | Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4) | European Journal of Human Genetics | 2009 | 176 |
| 48 | Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society | Genetics in Medicine | 2017 | 173 |
| 49 | Electrographic Status Epilepticus Is Associated With Mortality and Worse Short-Term Outcome in Critically Ill Children* | Critical Care Medicine | 2013 | 169 |
| 50 | Revised upper limb module for spinal muscular atrophy: Development of a new module | Muscle and Nerve | 2017 | 166 |
