Genetic Neurodegenerative Diseases

TopicLeading institutions, researchers & key papers

This cluster of papers explores the molecular mechanisms underlying neurodegenerative diseases such as Huntington's disease, myotonic dystrophy, and ataxias. It focuses on protein aggregation, polyglutamine toxicity, mitochondrial dysfunction, RNA-mediated disorders, chaperone function, gene expression dysregulation, and the role of trinucleotide repeats in neuronal degeneration.

311

Works

IDs:OpenAlex

How has Genetic Neurodegenerative Diseases's publication output changed over time?

ScholarIQpublication output · 1996–2017

Output grew100% over the shown period — from 1 works in 1996 to 2 in 2017.

1996199819992001200220062007200820132017

What are the most-cited papers on Genetic Neurodegenerative Diseases?

ScholarIQmost cited works

Multiple Wearable Sensors in Parkinson and Huntington Disease Individuals: A Pilot Study in Clinic and at Home

Jamie Adams, Karthik Dinesh, Mulin Xiong, Christopher G. Tarolli, Saloni Sharma, Nirav Sheth, Alexander J. Aranyosi, William Zhu, Steven Goldenthal, Kevin Biglan, E. Ray Dorsey, Gaurav Sharma

S4210219431. 20173,186 CitationsOPEN ACCESS

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi, VP Stanton, Marcy E. MacDonald, Marc W. Allard, S Youngman, Frischauf Am, Richard Mott, KM Draths, G. Zehetner, Claire O’Donovan, T Fielder, Bruce G. Jenkins, Manju Swaroop, Scott A. Taylor, L. Doucette-Stamm, H MacFarlane, SA Strobel, H. E. McFarlane, Buckler Aj, Nicolet Groot, Holger Hummerich, Deanna M. Church, Marilyn A. Anderson, Marianne F. James, Glenn Barnes, M. Carle Christine, FS Collins, MP Duyao, Peter B. Dervan, Gillian P. Bates, Tracey Holloway, P S Harper, TW Mcdonald, Michael North, K Blanchard, J.J. Wasmuth, Duncan Shaw, Hans Lehrach, Danilo A. Tagle, A. Poustka, Housman De, T. Huntington, Zdeněk Sedláček, Laura Riba, Suzanne L. Kirby, Carol Sze Ki Lin, RH Myers, Larry H. Thompson, Russell G. Snell, Michael O'Donovan, Kathleen M. Gillespie, Rita Shiang, NS Wexler, CM Ambrose, J.F. Gusella, Sarah Baxendale, N. Groat, John Valdes

S110447773. 19933,069 Citations

A polymorphic DNA marker genetically linked to Huntington's disease

James F. Gusella, Nancy S. Wexler, P. Michael Conneally, Susan L. Naylor, Mary Anne Anderson, Rudolph E. Tanzi, Paul C. Watkins, Kathleen Ottina, Margaret R. Wallace, Alan Y. Sakaguchi, Anne B. Young, Ira Shoulson, Ernesto Bonilla, Joseph B. Martin

Nature. 19832,346 Citations

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe, Ronald van Eijk, Peter J. Oefner, Susan M.G. Hoffman, Jane E. Lamerdin, Harvey W. Mohrenweiser, Dennis E. Bulman, Maurizio Ferrari, Joost Haan, Dick Lindhout, Gert‐Jan B. van Ommen, Marten H. Hofker, Michel D. Ferrari, Rune R. Frants

S110447773. 19962,343 CitationsOPEN ACCESS

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

Andreas Bender, Kim J. Krishnan, Christopher M. Morris, Geoffrey A. Taylor, Amy K. Reeve, Robert H. Perry, Evelyn Jaros, Joshua Hersheson, Joanne Betts, Thomas Klopstock, Robert W. Taylor, Douglass M. Turnbull

S137905309. 20061,591 Citations