| # | Title | Journal | Year | Citations |
|---|
| 1 | Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling | Nature Genetics | 2014 | 490 |
| 2 | Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 | American Journal of Medical Genetics, Part A | 2015 | 447 |
| 3 | Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders | Brain | 2012 | 324 |
| 4 | Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis | Multiple Sclerosis Journal | 2016 | 284 |
| 5 | Antibodies to native myelin oligodendrocyte glycoprotein in children with inflammatory demyelinating central nervous system disease | Annals of Neurology | 2009 | 283 |
| 6 | Approach to the diagnosis of congenital myopathies | Neuromuscular Disorders | 2014 | 239 |
| 7 | Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia | Nature Communications | 2016 | 233 |
| 8 | Anti-MOG antibody: The history, clinical phenotype, and pathogenicity of a serum biomarker for demyelination | Autoimmunity Reviews | 2016 | 229 |
| 9 | N‐methyl‐D‐aspartate receptor antibodies in pediatric dyskinetic encephalitis lethargica | Annals of Neurology | 2009 | 223 |
| 10 | CSF cytokines/chemokines as biomarkers in neuroinflammatory CNS disorders: A systematic review | Cytokine | 2016 | 209 |
| 11 | Immune therapy in autoimmune encephalitis: a systematic review | Expert Review of Neurotherapeutics | 2015 | 168 |
| 12 | Herpes simplex encephalitis relapse with chorea is associated with autoantibodies to N‐Methyl‐D‐aspartate receptor or dopamine‐2 receptor | Movement Disorders | 2014 | 160 |
| 13 | Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy | American Journal of Human Genetics | 2013 | 147 |
| 14 | Autoimmune encephalitis: Recent updates and emerging challenges | Journal of Clinical Neuroscience | 2014 | 131 |
| 15 | Herpes simplex virus‐induced anti‐N‐methyl‐d‐aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases | Developmental Medicine and Child Neurology | 2017 | 120 |
| 16 | Utility of CSF Cytokine/Chemokines as Markers of Active Intrathecal Inflammation: Comparison of Demyelinating, Anti-NMDAR and Enteroviral Encephalitis | PLoS ONE | 2016 | 102 |
| 17 | Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy | Neuron | 2018 | 100 |
| 18 | Natural history of pulmonary function in collagen VI-related myopathies | Brain | 2013 | 85 |
| 19 | Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials | Journal of Neurology, Neurosurgery and Psychiatry | 2018 | 81 |
| 20 | Autoimmune encephalitis in children: clinical phenomenology, therapeutics, and emerging challenges | Current Opinion in Neurology | 2017 | 80 |
| 21 | Movement disorders in children with anti-NMDAR encephalitis and other autoimmune encephalopathies | Movement Disorders | 2014 | 79 |
| 22 | Clinical Management of Pediatric Acute-Onset Neuropsychiatric Syndrome: Part II—Use of Immunomodulatory Therapies | Journal of Child and Adolescent Psychopharmacology | 2017 | 79 |
| 23 | Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch | Journal of Neuropathology and Experimental Neurology | 2011 | 77 |
| 24 | Autoimmune epilepsy in children: Case series and proposed guidelines for identification | Epilepsia | 2013 | 76 |
| 25 | The recognition and treatment of autoimmune epilepsy in children | Developmental Medicine and Child Neurology | 2015 | 73 |
| 26 | Recent advances in nemaline myopathy | Current Opinion in Neurology | 2013 | 70 |
| 27 | B Cell, Th17, and Neutrophil Related Cerebrospinal Fluid Cytokine/Chemokines Are Elevated in MOG Antibody Associated Demyelination | PLoS ONE | 2016 | 66 |
| 28 | Fetal akinesia: review of the genetics of the neuromuscular causes | Journal of Medical Genetics | 2011 | 65 |
| 29 | Autoimmune Basal Ganglia Disorders | Journal of Child Neurology | 2012 | 64 |
| 30 | Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies | Human Molecular Genetics | 2015 | 64 |
| 31 | Plasma exchange in pediatric anti-NMDAR encephalitis: A systematic review | Brain and Development | 2016 | 63 |
| 32 | Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease | Neuropediatrics | 2017 | 62 |
| 33 | Expanding Role of T Cells in Human Autoimmune Diseases of the Central Nervous System | Frontiers in Immunology | 2017 | 62 |
| 34 | Symptomatic treatment of children with anti‐NMDAR encephalitis | Developmental Medicine and Child Neurology | 2016 | 60 |
| 35 | Diagnosis and etiology of congenital muscular dystrophy: We are halfway there | Annals of Neurology | 2016 | 57 |
| 36 | Autoantibodies to neuronal antigens in children with new‐onset seizures classified according to the revised ILAE organization of seizures and epilepsies | Epilepsia | 2013 | 54 |
| 37 | Postencephalitic epilepsy and drug‐resistant epilepsy after infectious and antibody‐associated encephalitis in childhood: Clinical and etiologic risk factors | Epilepsia | 2016 | 54 |
| 38 | GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS | Journal of Neurology, Neurosurgery and Psychiatry | 2018 | 53 |
| 39 | Cortical Hypometabolism Demonstrated by PET in Relapsing NMDA Receptor Encephalitis | Pediatric Neurology | 2010 | 51 |
| 40 | Systematic review of exercise for Charcot‐Marie‐Tooth disease | Journal of the Peripheral Nervous System | 2015 | 51 |
| 41 | Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant | Human Mutation | 2018 | 48 |
| 42 | Clinical Approach to the Diagnosis of Congenital Myopathies | Seminars in Pediatric Neurology | 2011 | 47 |
| 43 | High sensitivity and specificity in proposed clinical diagnostic criteria for anti‐N‐methyl‐D‐aspartate receptor encephalitis | Developmental Medicine and Child Neurology | 2017 | 46 |
| 44 | Autoantibodies in movement and psychiatric disorders: updated concepts in detection methods, pathogenicity, and CNS entry | Annals of the New York Academy of Sciences | 2015 | 42 |
| 45 | Ferlins Show Tissue‐Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans‐Golgi/Recycling Ferlins | Traffic | 2016 | 42 |
| 46 | Interventions for congenital talipes equinovarus (clubfoot) | The Cochrane Library | 2014 | 41 |
| 47 | Longitudinal assessment of cognition and T2‐hyperintensities in NF1: An 18‐year study | American Journal of Medical Genetics, Part A | 2014 | 41 |
| 48 | Neuroimmune disorders of the central nervous system in children in the molecular era | Nature Reviews Neurology | 2018 | 41 |
| 49 | Immune-mediated steroid-responsive epileptic spasms and epileptic encephalopathy associated with VGKC-complex antibodies | Developmental Medicine and Child Neurology | 2011 | 40 |
| 50 | The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells | Human Molecular Genetics | 2014 | 40 |
