| # | Title | Journal | Year | Citations |
|---|
| 1 | Movement Disorder Society‐sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS‐UPDRS): Scale presentation and clinimetric testing results | Movement Disorders | 2008 | 4,796 |
| 2 | Mediation of Poly(ADP-Ribose) Polymerase-1-Dependent Cell Death by Apoptosis-Inducing Factor | Science | 2002 | 1,671 |
| 3 | Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management | Lancet Neurology, The | 2010 | 1,605 |
| 4 | PINK1-dependent recruitment of Parkin to mitochondria in mitophagy | Proceedings of the National Academy of Sciences of the United States of America | 2010 | 1,415 |
| 5 | Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Process, format, and clinimetric testing plan | Movement Disorders | 2007 | 1,097 |
| 6 | Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care | Lancet Neurology, The | 2010 | 975 |
| 7 | Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy | EMBO Journal | 2000 | 802 |
| 8 | Inclusion body myositis and myopathies | Annals of Neurology | 1995 | 785 |
| 9 | Neuron numbers and dendritic extent in normal aging and Alzheimer's disease | Neurobiology of Aging | 1987 | 746 |
| 10 | Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat | Science | 2000 | 664 |
| 11 | Identification of preclinical Alzheimer's disease by a profile of pathogenic proteins in neurally derived blood exosomes: A case‐control study | Alzheimer's and Dementia | 2015 | 656 |
| 12 | Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy | Molecular Cell | 2002 | 611 |
| 13 | Gene delivery of AAV2-neurturin for Parkinson's disease: a double-blind, randomised, controlled trial | Lancet Neurology, The | 2010 | 589 |
| 14 | IL-12– and IL-23–modulated T cells induce distinct types of EAE based on histology, CNS chemokine profile, and response to cytokine inhibition | Journal of Experimental Medicine | 2008 | 528 |
| 15 | Clinical trial in duchenne dystrophy. I. The design of the protocol | Muscle and Nerve | 1981 | 485 |
| 16 | Diagnostic criteria for psychosis in Parkinson's disease: Report of an NINDS, NIMH work group | Movement Disorders | 2007 | 474 |
| 17 | Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons | Human Molecular Genetics | 2004 | 471 |
| 18 | Pramipexole vs Levodopa as Initial Treatment for Parkinson Disease | Archives of Neurology | 2004 | 446 |
| 19 | Targeting nuclear RNA for in vivo correction of myotonic dystrophy | Nature | 2012 | 435 |
| 20 | Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids | Nature Genetics | 2012 | 428 |
| 21 | At the interface of sensory and motor dysfunctions and Alzheimer's disease | Alzheimer's and Dementia | 2015 | 420 |
| 22 | The role of interleukin-1 in neuroinflammation and Alzheimer disease: an evolving perspective | Journal of Neuroinflammation | 2008 | 418 |
| 23 | Effect of testosterone on muscle mass and muscle protein synthesis | Journal of Applied Physiology | 1989 | 404 |
| 24 | Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene | PLoS Genetics | 2010 | 394 |
| 25 | DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy | Developmental Cell | 2012 | 384 |
| 26 | Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2 | Human Molecular Genetics | 2001 | 381 |
| 27 | NMDA receptor losses in putamen from patients with Huntington's disease | Science | 1988 | 380 |
| 28 | Human immunodeficiency virus type 1 infection of the nervous system: Pathogenetic mechanisms | Annals of Neurology | 1993 | 377 |
| 29 | Cyclooxygenase-2: Molecular Biology, Pharmacology, and Neurobiology | Critical Reviews in Neurobiology | 1999 | 373 |
| 30 | Circulating Ly-6C+ myeloid precursors migrate to the CNS and play a pathogenic role during autoimmune demyelinating disease | Blood | 2009 | 369 |
| 31 | Insulin receptors in the central nervous system: Localization, signalling mechanisms and functional aspects | Progress in Neurobiology | 1991 | 363 |
| 32 | Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history | Muscle and Nerve | 1983 | 347 |
| 33 | Quantifying the Independence of Human Finger Movements: Comparisons of Digits, Hands, and Movement Frequencies | Journal of Neuroscience | 2000 | 343 |
| 34 | Photic- and Pattern-induced Seizures: A Review for the Epilepsy Foundation of America Working Group | Epilepsia | 2005 | 332 |
| 35 | Homozygotes for Huntington's disease | Nature | 1987 | 331 |
| 36 | Directed Differentiation of Human-Induced Pluripotent Stem Cells Generates Active Motor Neurons | Stem Cells | 2009 | 331 |
| 37 | Initiating levodopa/carbidopa therapy with and without entacapone in early Parkinson disease: The STRIDE‐PD study | Annals of Neurology | 2010 | 330 |
| 38 | Clinical research for rare disease: Opportunities, challenges, and solutions | Molecular Genetics and Metabolism | 2009 | 320 |
| 39 | Provisional diagnostic criteria for depression in Parkinson's disease: Report of an NINDS/NIMH Work Group | Movement Disorders | 2006 | 312 |
| 40 | Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy | Proceedings of the National Academy of Sciences of the United States of America | 2006 | 312 |
| 41 | A Randomized Clinical Trial of High-Dosage Coenzyme Q10 in Early Parkinson Disease | JAMA Neurology | 2014 | 312 |
| 42 | Dementia care: mental health effects, intervention strategies, and clinical implications | Lancet Neurology, The | 2006 | 309 |
| 43 | Global cognitive function in children with epilepsy: A community‐based study | Epilepsia | 2008 | 305 |
| 44 | Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features | Annals of Neurology | 1994 | 302 |
| 45 | Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy | Nature Structural and Molecular Biology | 2010 | 301 |
| 46 | The montreal cognitive assessment as a screening tool for cognitive impairment in Parkinson's disease | Movement Disorders | 2008 | 299 |
| 47 | Detecting and monitoring the symptoms of Parkinson's disease using smartphones: A pilot study | Parkinsonism and Related Disorders | 2015 | 285 |
| 48 | Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development | Neuron | 1996 | 280 |
| 49 | Practice Parameter: Corticosteroid treatment of Duchenne dystrophy | Neurology | 2005 | 279 |
| 50 | The impact of depressive symptoms in early Parkinson disease | Neurology | 2007 | 278 |
