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Topic · Cellular and Molecular Neuroscience

Genetic Neurodegenerative Diseases

Genetic Neurodegenerative Diseases is a research topic within Cellular and Molecular Neuroscience. Science Explorer counts 39k research works in it since 1950. 10.0% of them reached the world's top 10% most cited for their field and year.

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.

  • Huntington's Disease
  • Protein Aggregation
  • Polyglutamine
  • Mitochondrial Dysfunction
  • RNA-Mediated Disorders
  • Ataxia
  • Chaperones
  • Gene Expression Dysregulation
  • Trinucleotide Repeats
  • Neuronal Degeneration
Research works
39k
fractional, since 1950
In the world top 10%
3.9k
per year above
Top-10% rate
10.0%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
+13%
the tick is no change
Largest producer
United States
36% of the 10 largest, 2022-now
Genetic Neurodegenerative Diseases

Which countries lead Genetic Neurodegenerative Diseases research?

By volume, the United States and China publish the most (1.9k and 707 works in 2022-now).

By volume, 2022-now

  1. 1 United States 1.9k works
  2. 2 China 707 works
  3. 3 United Kingdom 492 works
  4. 4 Italy 389 works
  5. 5 Germany 386 works
  6. 6 India 383 works
  7. 7 Japan 357 works
  8. 8 France 312 works
  9. 9 Canada 243 works
  10. 10 Spain 241 works

How concentrated that is

The same countries as shares of everything the list above accounts for. A node where two countries do two thirds of the work and one spread evenly across twelve read alike as a ranking and not at all alike here.

United States: 35.6%China: 13.0%United Kingdom: 9.0%Italy: 7.1%6 others listed: 35.3%36%largest
United States1,937 · 35.6%China707 · 13.0%United Kingdom492 · 9.0%Italy389 · 7.1%6 others listed1,922 · 35.3%

Shares of the rows listed above, not of the whole node.

Which institutions lead Genetic Neurodegenerative Diseases research?

By volume in 2022-now, Harvard University publishes the most Genetic Neurodegenerative Diseases research, followed by University College London and Centre National de la Recherche Scientifique.

By volume, 2022-now

  1. 1 Harvard UniversityUnited States 92 works
  2. 2 University College LondonUnited Kingdom 92 works
  3. 3 Centre National de la Recherche ScientifiqueFrance 74 works
  4. 4 InsermFrance 62 works
  5. 5 Johns Hopkins UniversityUnited States 47 works
  6. 6 Radboud University NijmegenNetherlands 40 works
  7. 7 Russian Academy of SciencesRussia 38 works
  8. 8 Mayo ClinicUnited States 38 works
  9. 9 National Institutes of HealthUnited States 35 works
  10. 10 Helmholtz Association of German Research CentresGermany 33 works

Who are the leading researchers in Genetic Neurodegenerative Diseases?

The most-cited researchers publishing on Genetic Neurodegenerative Diseases include Eric S. Lander, Richard M. Durbin and Mark J. Daly.

  1. 1 Eric S. Lander United States 524k citations
  2. 2 Richard M. Durbin United Kingdom 410k citations
  3. 3 Mark J. Daly United States 403k citations
  4. 4 Guido Kroemer France 386k citations
  5. 5 Ronald C. Kessler United States 360k citations
  6. 6 Valery L. Feigin New Zealand 341k citations
  7. 7 Jun Wang China 340k citations
  8. 8 Graeme J. Hankey Australia 316k citations
  9. 9 Gregory Y.H. Lip United Kingdom 311k citations
  10. 10 Karl John Friston United Kingdom 310k citations

Ranked by citations received across their whole record, among researchers with at least three works on this topic.

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).

Most cited papers
#PaperReleasedCitations
1 Tandem repeats finder: a program to analyze DNA sequences Gary Benson · Nucleic Acids Research Open access 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 Open access 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 Open access Sep 2003 5,518
5 The functional anatomy of basal ganglia disorders Roger L. Albin, Anne B. Young, John B. Penney · Trends in Neurosciences ReviewOpen access 1989 5,435
All 100 most cited papers, with filters and sorting

Where is Genetic Neurodegenerative Diseases research done?

The largest centres of Genetic Neurodegenerative Diseases research in 2022-now are London (United Kingdom), Paris (France), Beijing (China) and New York (United States). Among places with at least 20 works in it, it is an unusually large share of all research in Nijmegen and Cardiff.

Largest cities, 2022-now

  1. 1 LondonUnited Kingdom 191 works
  2. 2 ParisFrance 153 works
  3. 3 BeijingChina 129 works
  4. 4 New YorkUnited States 115 works
  5. 5 TokyoJapan 97 works
  6. 6 RomeItaly 83 works
  7. 7 MilanItaly 78 works
  8. 8 BostonUnited States 73 works
  9. 9 MadridSpain 67 works
  10. 10 PhiladelphiaUnited States 66 works

Where it is the local speciality

  1. NijmegenNL · 41.6 works8.9×
  2. CardiffGB · 31.7 works7.8×
← less than its size predicts1×more →

Location quotient: how much more of its research is in Genetic Neurodegenerative Diseases than the world average.

See Genetic Neurodegenerative Diseases on the map

Where is the best place to study Genetic Neurodegenerative Diseases?

Among universities, judged by research, University College London, Harvard University and Johns Hopkins University score highest, combining citation excellence, specialisation, size, growth and international reach. Research strength is one signal when choosing where to study; it does not measure teaching.

0%10%20%30%mean 16.26%fractional works in this field (log) →share of work in the world top 10% →Utrecht UniversityUniversity College L…Johns Hopkins Univer…Harvard University
above the meannear itbelow it

One dot per university in the first ten of the table below, at the default weights. The upper left is the interesting corner: small places doing unusually strong work.

Citation excellenceshare of its work in the world top 10%, 2022-now and all time averaged
40%
Specialisationhow much of its work is in this field, counted up to 10× the world share
10%
Sizeits output in this field, on a log scale
30%
Growthoutput growth, counted from -20% to +20%
10%
Internationalshare of its work with a co-author abroad
10%
Each slider sets a weight; the share it gets of the score is beside it.
#UniversityScoreTop 10%SpecialisationWorksGrowth
1University College LondonUnited Kingdom 80.018.4%9.1×92 +5.7%
2Harvard UniversityUnited States 79.914.3%4.5×92 +32.4%
3Johns Hopkins UniversityUnited States 68.514.6%4.8×47 +25.5%
4Utrecht UniversityNetherlands 63.828.1%2.2×10 +22.9%
5University of British ColumbiaCanada 61.914.9%3.6×28 +18.6%
6Radboud University NijmegenNetherlands 61.112.4%10.4×40 +5.4%
7McGill UniversityCanada 60.415.8%4.5×29 +34.2%
8University of PennsylvaniaUnited States 58.013.8%4.3×29 +27.1%
9Stanford UniversityUnited States 58.010.9%2.9×28 +77.6%
10Cornell UniversityUnited States 56.819.4%1.9×16 +19.0%

Universities only. The score blends citation excellence (40%), size (30%), specialisation (10%), growth (10%), international reach (10%), 2022-now; growth compares 2018-21 with 2022-25 and counts up to +20%, since a jump from a small base is mostly noise.

Every institution in Genetic Neurodegenerative Diseases, country by country

Is Genetic Neurodegenerative Diseases research growing?

Output in 2022-2025 was 13% higher than in 2018-2021, peaking in 2025. The fastest-growing topics are Genetic Neurodegenerative Diseases.

still counting19801990200020102020
grewheldshrank

The same series as a ribbon: one cell per year, darker for more. The line above answers how much; this answers when.

Its share of all research

Growing output can still be a shrinking share: all of science grows. This is Genetic Neurodegenerative Diseases as a percentage of every work published that year, 0.032% in 2024.

still counting0.020%0.040%0.060%Genetic Neurodegenerative Diseases0.031% in 202519801990200020102020

Fractional works of Genetic Neurodegenerative Diseases over all fractional works that year. How the balance of science has shifted.

How much of it reaches the world top 10%

Year by year.

still counting5%10%15%Genetic Neurodegenerative Diseases9.9% in 2025200020102020

Of each year's works in it, the share that reached the world's 10% most cited for their field and year. A field is the world for its own topics, so there is no other line to hold it against.

Which topics inside it are moving

Growth and decline on one axis around a shared zero. Two lists side by side hide the thing that matters: whether the growth dwarfs the decline, or the other way round.

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