Most cited papers in Genetic Neurodegenerative Diseases
What are the most cited papers in Genetic Neurodegenerative Diseases?
The most cited paper in Genetic Neurodegenerative Diseases is "Tandem repeats finder: a program to analyze DNA sequences" (Gary Benson, 1999), with 10,129 citations. Next come "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes" (8,489) and "Parkinson's disease" (6,244).
Showing 50 of 100 papers. Every paper with more than 1,334 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Tandem repeats finder: a program to analyze DNA sequences Gary Benson · Nucleic Acids Research | 1999 | 10,129 |
| 2 | A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Marcy E. MacDonald · Cell | Mar 1993 | 8,489 |
| 3 | Parkinson's disease Lorraine V. Kalia, Anthony E. Lang · The Lancet | 19 Apr 2015 | 6,244 |
| 4 | Parkinson's Disease William T. Dauer, Serge Przedborski · Neuron | Sep 2003 | 5,518 |
| 5 | The functional anatomy of basal ganglia disorders Roger L. Albin, Anne B. Young, John B. Penney · Trends in Neurosciences | 1989 | 5,435 |
| 6 | Dystrophin: The protein product of the duchenne muscular dystrophy locus Eric P. Hoffman, Robert H. Brown, Louis M. Kunkel · Cell | Dec 1987 | 4,742 |
| 7 | Primate models of movement disorders of basal ganglia origin Mahlon R. DeLong · Trends in Neurosciences | Jul 1990 | 3,891 |
| 8 | AGEING AND PARKINSON'S DISEASE: SUBSTANTIA NIGRA REGIONAL SELECTIVITY Julian Fearnley, Andrew John Lees · Brain | 1991 | 3,553 |
| 9 | Protein aggregation and neurodegenerative disease Christopher A. Ross, Michelle A. Poirier · Nature Medicine | Jul 2004 | 3,526 |
| 10 | p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death Geir Bjørkøy, Trond Lamark, Andreas Brech et al. · The Journal of Cell Biology | 14 Nov 2005 | 3,321 |
| 11 | A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation Avinash Patel, Hyun O. Lee, Louise M. Jawerth et al. · Cell | Aug 2015 | 3,277 |
| 12 | Second consensus statement on the diagnosis of multiple system atrophy Sid Gilman, Gregor Karl Wenning, Phillip A. Low et al. · Neurology | 25 Aug 2008 | 3,194 |
| 13 | Multiple Wearable Sensors in Parkinson and Huntington Disease Individuals: A Pilot Study in Clinic and at Home Jamie Adams, Karthik Dinesh, Mulin Xiong et al. · Digital Biomarkers | 17 Aug 2017 | 3,186 |
| 14 | CNS stem cells express a new class of intermediate filament protein Urban Lendahl, Lyle B. Zimmerman, Ronald D.G. McKay · Cell | Feb 1990 | 3,172 |
| 15 | Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice Laura Mangiarini, Kirupa Sathasivam, Mary J. Seller et al. · Cell | Nov 1996 | 3,116 |
| 16 | Fiber Types in Mammalian Skeletal Muscles Stefano Schiaffino, Carlo Reggiani · Physiological Reviews | Oct 2011 | 3,050 |
| 17 | Foxo Transcription Factors Induce the Atrophy-Related Ubiquitin Ligase Atrogin-1 and Cause Skeletal Muscle Atrophy Marco Sandri, Claudia Sandri, Alex Gilbert et al. · Cell | Apr 2004 | 3,035 |
| 18 | Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain Marian DiFiglia, Ellen Sapp, Kathryn O. Chase et al. · Science | 26 Sep 1997 | 2,937 |
| 19 | Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy Albert R. La Spada, Elizabeth M. Wilson, Dennis B. Lubahn et al. · Nature | Jul 1991 | 2,824 |
| 20 | Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion Victoria Campuzano et al. · Science | 8 Mar 1996 | 2,812 |
| 21 | Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member J. David Brook et al. · Cell | Feb 1992 | 2,808 |
| 22 | Sensing DNA Damage Through ATRIP Recognition of RPA-ssDNA Complexes Lee Zou, Stephen J. Elledge · Science | 6 Jun 2003 | 2,737 |
| 23 | Excitatory Amino Acids as a Final Common Pathway for Neurologic Disorders Franklin H. Epstein, Stuart A. Lipton, Paul A. Rosenberg · New England Journal of Medicine | 3 Mar 1994 | 2,679 |
| 24 | Brain dopamine and the syndromes of Parkinson and Huntington Clinical, morphological and neurochemical correlations H. Bernheimer, Walther Birkmayer, Oleh Hornykiewicz et al. · Journal of the Neurological Sciences | Dec 1973 | 2,677 |
| 25 | Neuropathological Classification of Huntingtonʼs Disease Jean‐Paul Vonsattel, Richard H. Myers, Thomas J. Stevens et al. · Journal of Neuropathology & Experimental Neurology | Nov 1985 | 2,637 |
| 26 | Huntington's disease Francis O. Walker · The Lancet | 2007 | 2,630 |
| 27 | THE BASAL GANGLIA: FOCUSED SELECTION AND INHIBITION OF COMPETING MOTOR PROGRAMS Jonathan W. Mink · Progress in Neurobiology | Nov 1996 | 2,539 |
| 28 | Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) Irene Litvan, Yves Agid, Donald B. Calne et al. · Neurology | Jul 1996 | 2,532 |
| 29 | Amyotrophic lateral sclerosis Matthew C. Kiernan, Steve Vucic, Benjamin C. Cheah et al. · The Lancet | 5 Feb 2011 | 2,529 |
| 30 | Cas-OFFinder: a fast and versatile algorithm that searches for potential off-target sites of Cas9 RNA-guided endonucleases Sangsu Bae, Jeongbin Park, Jin‐Soo Kim · Bioinformatics | 24 Jan 2014 | 2,519 |
| 31 | Polymyositis and Dermatomyositis Anthony Bohan, James B. Peter · New England Journal of Medicine | 20 Feb 1975 | 2,473 |
| 32 | Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease Coro Paisán-Ruı́z et al. · Neuron | Nov 2004 | 2,463 |
| 33 | Mitofusin 2 tethers endoplasmic reticulum to mitochondria Olga Martins de Brito, Luca Scorrano · Nature | Dec 2008 | 2,449 |
| 34 | Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria Günter U. Höglinger et al. · Movement Disorders | 3 May 2017 | 2,430 |
| 35 | A positive selection for mutants lacking orotidine-5′-phosphate decarboxylase activity in yeast: 5-fluoro-orotic acid resistance Jef D. Boeke, Francois La Croute, Gerald R. Fink · Molecular and General Genetics MGG | Nov 1984 | 2,385 |
| 36 | De novo identification of repeat families in large genomes Alkes L. Price, Natalie C. Jones, Pavel A. Pevzner · Computer applications in the biosciences | Jun 2005 | 2,356 |
| 37 | A polymorphic DNA marker genetically linked to Huntington's disease James F. Gusella, Nancy Sabin Wexler, P. Michael Conneally et al. · Nature | Nov 1983 | 2,356 |
| 38 | Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease Brinda Ravikumar, Corinne Vacher, Zdenek Berger et al. · Nature Genetics | 16 May 2004 | 2,354 |
| 39 | Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 Roel A. Ophoff, Gisela Marie Terwindt, Monique N. Vergouwe et al. · Cell | Nov 1996 | 2,351 |
| 40 | α-Synuclein is phosphorylated in synucleinopathy lesions Hideo Fujiwara, Masato Hasegawa, Naoshi Dohmae et al. · Nature Cell Biology | 28 Jan 2002 | 2,243 |
| 41 | A Controlled Trial of Riluzole in Amyotrophic Lateral Sclerosis Gilbert Bensimon, Lucette Lacomblez, Vincent Meininger · New England Journal of Medicine | 3 Mar 1994 | 2,231 |
| 42 | Data on the distribution of fibre types in thirty-six human muscles Mark A. Johnson, József Péter Polgár, Andrew Weightman et al. · Journal of the Neurological Sciences | 1973 | 2,214 |
| 43 | Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation Stephen W. Davies, Mark Turmaine, Barbara A. Cozens et al. · Cell | Aug 1997 | 2,212 |
| 44 | Impairment of the Ubiquitin-Proteasome System by Protein Aggregation Neil Bence, Roopal M. Sampat, Ron R. Kopito · Science | 25 May 2001 | 2,211 |
| 45 | A Drosophila model of Parkinson's disease Mel Β. Feany, Welcome W. Bender · Nature | Mar 2000 | 2,156 |
| 46 | Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management Katharine M. D. Bushby, Richard S. Finkel, David J. Birnkrant et al. · The Lancet Neurology | 28 Nov 2009 | 2,072 |
| 47 | Prevalence of Muscular Dystrophies: A Systematic Literature Review Alice Theadom, Miriam Rodrigues, Richard H Roxburgh et al. · Neuroepidemiology | 2014 | 2,060 |
| 48 | Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the ‘phosphocreatine circuit’ for cellular energy homeostasis Theo Wallimann, Markus Wyss, Dieter G. Brdiczka et al. · Biochemical Journal | 1992 | 2,033 |
| 49 | Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death Montserrat Arrasate, Siddhartha S. Mitra, Erik S. Schweitzer et al. · Nature | Oct 2004 | 2,024 |
| 50 | Parkinson's Disease Anthony E. Lang, Andrés M. Lozano · New England Journal of Medicine | 8 Oct 1998 | 2,019 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.