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Topic · Cellular and Molecular Neuroscience

Hereditary Neurological Disorders

Hereditary Neurological Disorders is a research topic within Cellular and Molecular Neuroscience. Science Explorer counts 15k research works in it since 1950. 10.2% of them reached the world's top 10% most cited for their field and year.

This cluster of papers explores the genetic basis and molecular mechanisms underlying various neuropathies, including Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and related disorders. It covers topics such as genetic mutations, axonal degeneration, nerve growth factor, mitochondrial dysfunction, and microtubule dynamics. The research also delves into the role of neurofilament mutations and ganglioside-induced differentiation in these neuropathies.

  • Charcot-Marie-Tooth Disease
  • Hereditary Spastic Paraplegia
  • Peripheral Neuropathy
  • Genetic Mutations
  • Axonal Degeneration
  • Nerve Growth Factor
  • Mitochondrial Dysfunction
  • Microtubule Dynamics
  • Neurofilament Mutations
  • Ganglioside-Induced Differentiation
Research works
15k
fractional, since 1950
In the world top 10%
1.5k
per year above
Top-10% rate
10.2%
share of its works in the world top 10%
Growth, 2018-21 → 2022-25
+10%
the tick is no change
Largest producer
United States
29% of the 10 largest, 2022-now
Hereditary Neurological Disorders

Which countries lead Hereditary Neurological Disorders research?

By volume, the United States and China publish the most (579 and 370 works in 2022-now).

By volume, 2022-now

  1. 1 United States 579 works
  2. 2 China 370 works
  3. 3 India 180 works
  4. 4 Italy 174 works
  5. 5 Germany 154 works
  6. 6 France 142 works
  7. 7 United Kingdom 142 works
  8. 8 Japan 131 works
  9. 9 Spain 75 works
  10. 10 Brazil 70 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: 28.7%China: 18.4%India: 8.9%Italy: 8.6%6 others listed: 35.4%29%largest
United States579 · 28.7%China370 · 18.4%India180 · 8.9%Italy174 · 8.6%6 others listed714 · 35.4%

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

Which institutions lead Hereditary Neurological Disorders research?

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

By volume, 2022-now

  1. 1 University College LondonUnited Kingdom 34 works
  2. 2 Harvard UniversityUnited States 27 works
  3. 3 Centre National de la Recherche ScientifiqueFrance 20 works
  4. 4 InsermFrance 19 works
  5. 5 All India Institute of Medical SciencesIndia 19 works
  6. 6 Mayo ClinicUnited States 18 works
  7. 7 Johns Hopkins UniversityUnited States 15 works
  8. 8 Zhengzhou UniversityChina 12 works
  9. 9 The University of SydneyAustralia 12 works
  10. 10 Peking UniversityChina 12 works

Who are the leading researchers in Hereditary Neurological Disorders?

The most-cited researchers publishing on Hereditary Neurological Disorders include Mark J. Daly, Stacey L. Gabriel and Peer Bork.

  1. 1 Mark J. Daly United States 403k citations
  2. 2 Stacey L. Gabriel United States 402k citations
  3. 3 Peer Bork Germany 396k citations
  4. 4 Guido Kroemer France 386k citations
  5. 5 Jun Wang China 340k citations
  6. 6 Graeme J. Hankey Australia 316k citations
  7. 7 Dan J. Stein South Africa 306k citations
  8. 8 Richard A. Gibbs United States 292k citations
  9. 9 John Q. Trojanowski United States 286k 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 Hereditary Neurological Disorders?

The most cited paper in Hereditary Neurological Disorders is "The Calpain System" (Darrel E. Goll, Valery F. Thompson, Hongqi Li et al., 2003), with 2,837 citations. Next come "Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy" (2,411) and "Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders" (2,024).

Most cited papers
#PaperReleasedCitations
1 The Calpain System Darrel E. Goll, Valery F. Thompson, Hongqi Li et al. · Physiological Reviews Review Jul 2003 2,837
2 Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy Jerry R. Mendell et al. · New England Journal of Medicine Open access Nov 2017 2,411
3 Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders Yaping Yang et al. · New England Journal of Medicine Open access 2 Oct 2013 2,024
4 Assessment of current diagnostic criteria for Guillain-Barr� syndrome Arthur K. Asbury, David R. Cornblath · Annals of Neurology 1990 1,921
5 Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System Nicole Baumann, Danielle Pham-Dinh · Physiological Reviews Review Apr 2001 1,815
All 100 most cited papers, with filters and sorting

Where is Hereditary Neurological Disorders research done?

The largest centres of Hereditary Neurological Disorders research in 2022-now are London (United Kingdom), Beijing (China), Paris (France) and Tokyo (Japan).

Largest cities, 2022-now

  1. 1 LondonUnited Kingdom 58 works
  2. 2 BeijingChina 56 works
  3. 3 ParisFrance 56 works
  4. 4 TokyoJapan 33 works
  5. 5 SeoulSouth Korea 31 works
  6. 6 MilanItaly 28 works
  7. 7 RomeItaly 28 works
  8. 8 ShanghaiChina 28 works
  9. 9 MoscowRussia 27 works
  10. 10 New YorkUnited States 27 works
See Hereditary Neurological Disorders on the map

Where is the best place to study Hereditary Neurological Disorders?

Among universities, judged by research, University College London, Harvard University and Johns Hopkins University score highest, combining 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%mean 13.21%fractional works in this field (log) →share of work in the world top 10% →University College L…McGill UniversityHarvard UniversityJohns Hopkins Univer…
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.

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 98.319.8%8.6×34 +13.2%
2Harvard UniversityUnited States 76.715.9%3.5×27 +3.8%
3Johns Hopkins UniversityUnited States 66.012.8%3.9×15 +2.4%
4McGill UniversityCanada 51.117.1%3.8×9 -18.0%
5University of PennsylvaniaUnited States 50.814.5%3.3×9 +7.4%
6The University of SydneyAustralia 48.717.1%3.9×12 -22.6%
7Yale UniversityUnited States 43.39.5%3.4×9 +115.6%
8All India Institute of Medical SciencesIndia 39.85.3%6.8×19 +199.0%
9Sichuan UniversityChina 39.313.1%2.0×11 +102.7%
10Sorbonne UniversitéFrance 38.77.0%6.0×10 -22.5%

Universities only. The score blends 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 Hereditary Neurological Disorders, country by country

Is Hereditary Neurological Disorders research growing?

Output in 2022-2025 was 10% higher than in 2018-2021, peaking in 2025. The fastest-growing topics are Hereditary Neurological Disorders.

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 Hereditary Neurological Disorders as a percentage of every work published that year, 0.011% in 2024.

still counting0.010%0.020%0.030%Hereditary Neurological Disorders0.013% in 202519801990200020102020

Fractional works of Hereditary Neurological Disorders 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%Hereditary Neurological Disorders10.1% 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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