Leaderboards/Genetic Neurodegenerative Diseases

Genetic Neurodegenerative Diseases

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Kristina Ibáñez
Queen Mary University of London
2
Sven Dorkenwald
McGovern Institute for Brain Research
3
Nanditha Rajamani
University of Würzburg
4
Debabrata Dutta
University of Massachusetts Chan Medical School
5
Manon Boivin
Centre National de la Recherche Scientifique
6
Igor Stevanovski
Garvan Institute of Medical Research
7
Phuong Thi Nguyen
Korea Institute of Brain Science
8
Branduff McAllister
Harvard University
9
Varvara Mathiopoulou
Humboldt-Universität zu Berlin
10
Federica Pilotto
Université Claude Bernard Lyon 1

Papers

1
Neuronal wiring diagram of an adult brain
Nature|2024
497 cit.
2
Deep brain stimulation of symptom-specific networks in Parkinson’s disease
Nature Communications|2024
107 cit.
3
Modulation of subthalamic beta oscillations by movement, dopamine, and deep brain stimulation in Parkinson’s disease
npj Parkinson s Disease|2024
90 cit.
4
Publication in Trends in Molecular Medicine (2024) [72 citations, W4391178900]
Trends in Molecular Medicine|2024
72 cit.
5
Increased frequency of repeat expansion mutations across different populations
Nature Medicine|2024
72 cit.
6
CAVE: Connectome Annotation Versioning Engine
Nature Methods|2025
40 cit.
7
Gamma entrainment induced by deep brain stimulation as a biomarker for motor improvement with neuromodulation
Nature Communications|2025
26 cit.
8
Kaempferol enhances ER-mitochondria coupling and protects motor neurons from mitochondrial dysfunction and ER stress in C9ORF72-ALS
Acta Neuropathologica Communications|2025
10 cit.
9
GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy
Nature Genetics|2026
5 cit.
10
Pathogenic cardiac thick filament variants: A structural perspective
Biophysical Journal|2024
2 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Francesca Cavalcanti
National Academies of Sciences, Engineering, and Medicine
2
Edward J. Wild
Huntington's Disease Association
3
Rubén Fernández‐Busnadiego
Biocompatibles (United Kingdom)
4
Justin K. Ichida
University of Southern California
5
Melissa Gymrek
University of California San Diego
6
Eric A. Gordon
Medical Research Associates
7
S. S. Scherer
University of Toronto
8
Ryan K. C. Yuen
Hospital for Sick Children
9
Mariacristina Capizzi
Institut du Cerveau
10
Thomas Champion
Hospital Central Militar

Papers

1
PIKFYVE inhibition mitigates disease in models of diverse forms of ALS
Cell|2023
98 cit.
2
A deep population reference panel of tandem repeat variation
Nature Communications|2023
76 cit.
3
Polymorphic short tandem repeats make widespread contributions to blood and serum traits
Cell Genomics|2023
52 cit.
4
Genome-wide tandem repeat expansions contribute to schizophrenia risk
Molecular Psychiatry|2022
43 cit.
5
KCNJ2 inhibition mitigates mechanical injury in a human brain organoid model of traumatic brain injury
Cell stem cell|2024
39 cit.
6
Huntington’s Disease Clinical Trials Corner: August 2023
Journal of Huntington s Disease|2023
37 cit.
7
Huntington’s Disease Clinical Trials Corner: March 2024
Journal of Huntington s Disease|2024
33 cit.
8
WebSTR: A Population-wide Database of Short Tandem Repeat Variation in Humans
Journal of Molecular Biology|2023
29 cit.
9
Huntington’s Disease Clinical Trials Corner: April 2022
Journal of Huntington s Disease|2022
28 cit.
10
SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS
Cell stem cell|2023
28 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Michael R. Hayden
University of British Columbia
2
Gillian P. Bates
Huntington's Disease Association
3
David C. Rubinsztein
UK Dementia Research Institute
4
Alfred L. Goldberg
Harvard University
5
Huda Y. Zoghbi
Howard Hughes Medical Institute
6
Louis M. Kunkel
Boston Children's Hospital
7
Christopher A. Ross
Johns Hopkins University
8
Gen Sobue
Aichi Medical University
9
Laura P.W. Ranum
Allen Institute for Brain Science
10
Sarah J. Tabrizi
Huntington's Disease Association

Papers

1
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Nature Genetics|1999
5k cit.
2
Dystrophin: The protein product of the duchenne muscular dystrophy locus
Cell|1987
4.7k cit.
3
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
Cell|1996
3.1k cit.
4
Foxo Transcription Factors Induce the Atrophy-Related Ubiquitin Ligase Atrogin-1 and Cause Skeletal Muscle Atrophy
Cell|2004
3k cit.
5
Inhibitors of the proteasome block the degradation of most cell proteins and the generation of peptides presented on MHC class I molecules
Cell|1994
2.5k cit.
6
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
Cell|1987
2.4k cit.
7
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
Nature Genetics|2004
2.3k cit.
8
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
Cell|1997
2.2k cit.
9
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Science|2008
1.8k cit.
10
Atrogin-1, a muscle-specific F-box protein highly expressed during muscle atrophy
Proceedings of the National Academy of Sciences|2001
1.8k cit.

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