| # | Title | Journal | Year | Citations |
|---|
| 1 | New insights into the genetic etiology of Alzheimer’s disease and related dementias | Nature Genetics | 2022 | 700 |
| 2 | The natural history of multiple system atrophy: a prospective European cohort study | Lancet Neurology, The | 2013 | 426 |
| 3 | Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage | American Journal of Human Genetics | 2012 | 414 |
| 4 | Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in Tau | Journal of Neuropathology and Experimental Neurology | 1999 | 381 |
| 5 | EFNS guidelines on diagnosis and treatment of primary dystonias | European Journal of Neurology | 2011 | 350 |
| 6 | Melatonin Versus Placebo in the Prophylaxis of Cluster Headache | Cephalalgia | 1996 | 307 |
| 7 | Preamyloid deposits in the cerebral cortex of patients with Alzheimer's disease and nondemented individuals | Neuroscience Letters | 1988 | 274 |
| 8 | Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference | Nature Communications | 2018 | 263 |
| 9 | CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis | Journal of Neurology, Neurosurgery and Psychiatry | 2015 | 249 |
| 10 | Down patients: Extracellular preamyloid deposits precede neuritic degeneration and senile plaques | Neuroscience Letters | 1989 | 242 |
| 11 | Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial | Lancet Neurology, The | 2011 | 222 |
| 12 | A Review of Hormonal Findings in Cluster Headache. Evidence for Hypothalamic Involvement | Cephalalgia | 1993 | 218 |
| 13 | Small-fibre neuropathies—advances in diagnosis, pathophysiology and management | Nature Reviews Neurology | 2012 | 187 |
| 14 | Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis | European Journal of Neurology | 2016 | 175 |
| 15 | Isolation and culture of human muscle-derived stem cells able to differentiate into myogenic and neurogenic cell lineages | Lancet, The | 2004 | 172 |
| 16 | Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6 | NeuroImage | 2010 | 162 |
| 17 | Aneurysm Study of Pipeline in an Observational Registry (ASPIRe) | Interventional Neurology | 2016 | 162 |
| 18 | Long‐term safety and efficacy of eculizumab in generalized myasthenia gravis | Muscle and Nerve | 2019 | 162 |
| 19 | The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity | Neurobiology of Disease | 2012 | 159 |
| 20 | Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data | Lancet Neurology, The | 2015 | 159 |
| 21 | Rasmussen encephalitis | Handbook of Clinical Neurology / Edited By P J Vinken and G W Bruyn | 2013 | 158 |
| 22 | Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study | Neurobiology of Aging | 2018 | 151 |
| 23 | Dystonia rating scales: Critique and recommendations | Movement Disorders | 2013 | 150 |
| 24 | Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use | Lancet Neurology, The | 2014 | 148 |
| 25 | Gerstmann‐Sträussler‐Scheinker Disease and the Indiana Kindred | Brain Pathology | 1995 | 145 |
| 26 | The molecular landscape of glioma in patients with Neurofibromatosis 1 | Nature Medicine | 2019 | 145 |
| 27 | Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 | American Journal of Human Genetics | 2018 | 144 |
| 28 | High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions | Scientific Reports | 2017 | 143 |
| 29 | Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability | Annals of Neurology | 2012 | 137 |
| 30 | Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 | Human Molecular Genetics | 2012 | 134 |
| 31 | Twenty-Four-Hour Melatonin and Cortisol Plasma Levels in Relation to Timing of Cluster Headache | Cephalalgia | 1995 | 125 |
| 32 | Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy | Annals of Neurology | 2012 | 125 |
| 33 | Endogenous activation of metabotropic glutamate receptors supports the proliferation and survival of neural progenitor cells | Cell Death and Differentiation | 2005 | 124 |
| 34 | Detection of prions in blood from patients with variant Creutzfeldt-Jakob disease | Science Translational Medicine | 2016 | 120 |
| 35 | Neurosphere-Derived Cells Exert a Neuroprotective Action by Changing the Ischemic Microenvironment | PLoS ONE | 2007 | 113 |
| 36 | Electroclinical, MRI and surgical outcomes in 100 epileptic patients with type II FCD | Epileptic Disorders | 2012 | 110 |
| 37 | Randomized, Double-Blind, Placebo-Controlled, Multicenter Phase II Study of Onartuzumab Plus Bevacizumab Versus Placebo Plus Bevacizumab in Patients With Recurrent Glioblastoma: Efficacy, Safety, and Hepatocyte Growth Factor and O6-Methylguanine–DNA Methyltransferase Biomarker Analyses | Journal of Clinical Oncology | 2017 | 110 |
| 38 | Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial | Annals of Neurology | 2014 | 109 |
| 39 | The contribution of neuropsychology to diagnostic assessment in epilepsy | Epilepsy and Behavior | 2010 | 108 |
| 40 | Cerebrospinal fluid real‐time quaking‐induced conversion is a robust and reliable test for sporadic creutzfeldt–jakob disease: An international study | Annals of Neurology | 2016 | 107 |
| 41 | Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy | JAMA Neurology | 2015 | 106 |
| 42 | Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia | Journal of Neurology, Neurosurgery and Psychiatry | 2020 | 106 |
| 43 | Progressive dysfunction of the cholesterol biosynthesis pathway in the R6/2 mouse model of Huntington’s disease | Neurobiology of Disease | 2007 | 104 |
| 44 | Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly | Brain | 2017 | 102 |
| 45 | Small fibre neuropathy | Current Opinion in Neurology | 2012 | 94 |
| 46 | Biomarkers of epileptogenic zone defined by quantified stereo‐EEG analysis | Epilepsia | 2014 | 94 |
| 47 | Human Fetal Aorta Contains Vascular Progenitor Cells Capable of Inducing Vasculogenesis, Angiogenesis, and Myogenesis in Vitro and in a Murine Model of Peripheral Ischemia | American Journal of Pathology | 2007 | 93 |
| 48 | Isolated limb dystonia as presenting feature of Parkin disease | Journal of Neurology, Neurosurgery and Psychiatry | 2014 | 91 |
| 49 | A soluble form of prion protein in human cerebrospinal fluid: Implications for prion-related encephalopathies | Biochemical and Biophysical Research Communications | 1992 | 90 |
| 50 | Cerebral preamyloid deposits and congophilic angiopathy in aged dogs | Neuroscience Letters | 1990 | 89 |
