Leaderboards/Neurogenetic and Muscular Disorders Research

Neurogenetic and Muscular Disorders Research

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
X. Rosa
Lucile Packard Children's Hospital
2
Marlen C. Lauffer
Leiden University Medical Center
3
Michael W. Baughn
University of California San Diego
4
Sahba Seddighi
University of Oxford
5
Crystal M. Proud
Children's Hospital of The King's Daughters
6
Sien Hilde Van Daele
Valve (United States)
7
Igor Stevanovski
Garvan Institute of Medical Research
8
Mandana Arbab
Broad Institute
9
S. Sebastian Pineda
Broad Institute
10
Jacob A. Blum
Stanford University

Papers

1
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders
Communications Medicine|2024
246 cit.
2
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
Science Translational Medicine|2024
158 cit.
3
Publication in Trends in Molecular Medicine (2024) [50 citations, W4390805874]
Trends in Molecular Medicine|2024
50 cit.
4
Publication in Nature Medicine (2025) [11 citations, W4417123247]
Nature Medicine|2025
11 cit.
5
Publication in Journal of Clinical Investigation (2025) [6 citations, W4414240149]
Journal of Clinical Investigation|2025
6 cit.
6
Fast-track to a Huntington disease diagnosis – I saw the “boxcar” sign
Clinical Imaging|2025
2 cit.
7
Publication in Neuromuscular Disorders (2024) [W4403135952]
Neuromuscular Disorders|2024
0 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Clotilde Lagier‐Tourenne
Massachusetts General Hospital
2
Rickie Patani
National Hospital for Neurology and Neurosurgery
3
Timothy W. Yu
Boston Children's Hospital
4
Sami J. Barmada
University of Michigan
5
Pietro Fratta
Queen Mary University of London
6
Benjamin Falcon
MRC Laboratory of Molecular Biology
7
Tarmo Äijö
University of North Carolina at Chapel Hill
8
Hemali Phatnani
New York Genome Center
9
Sanja Vicković
Science for Life Laboratory
10
Yong‐Jie Zhang
Jacksonville College

Papers

1
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Nature|2022
514 cit.
2
SM-Omics is an automated platform for high-throughput spatial multi-omics
Nature Communications|2022
193 cit.
3
TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP
Nature|2023
162 cit.
4
A framework for individualized splice-switching oligonucleotide therapy
Nature|2023
154 cit.
5
Spatial host–microbiome sequencing reveals niches in the mouse gut
Nature Biotechnology|2023
117 cit.
6
RNA methylation influences TDP43 binding and disease pathogenesis in models of amyotrophic lateral sclerosis and frontotemporal dementia
Molecular Cell|2023
107 cit.
7
Three-dimensional spatial transcriptomics uncovers cell type localizations in the human rheumatoid arthritis synovium
Communications Biology|2022
80 cit.
8
Heteromeric amyloid filaments of ANXA11 and TDP-43 in FTLD-TDP type C
Nature|2024
78 cit.
9
Tau filaments are tethered within brain extracellular vesicles in Alzheimer’s disease
Nature Neuroscience|2024
75 cit.
10
Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer’s disease
Acta Neuropathologica|2024
64 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Don W. Cleveland
University of California San Diego
2
Gideon Dreyfuss
University of Pennsylvania
3
Christopher E. Shaw
King's College London
4
Judith Melki
Inserm
5
Leonard Petrucelli
Jacksonville College
6
Rosa Rademakers
Indiana University – Purdue University Indianapolis
7
Robert H. Brown
University of Massachusetts Chan Medical School
8
Bryan J. Traynor
National Institutes of Health
9
Ian R. Mackenzie
University of British Columbia
10
David J. Glass
Regeneron (United States)

Papers

1
U1 snRNP regulates cancer cell migration and invasion in vitro
Nature Communications|2020
7.2k cit.
2
Peptide mapping by limited proteolysis in sodium dodecyl sulfate and analysis by gel electrophoresis.
Journal of Biological Chemistry|1977
5.6k cit.
3
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Neuron|2011
5k cit.
4
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Neuron|2011
4.5k cit.
5
Identification and characterization of a spinal muscular atrophy-determining gene
Cell|1995
4k cit.
6
Identification of Ubiquitin Ligases Required for Skeletal Muscle Atrophy
Science|2001
3.5k cit.
7
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Science|2008
2.6k cit.
8
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Science|2009
2.6k cit.
9
Mutations in the <i>FUS/TLS</i> Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Science|2009
2.6k cit.
10
The IGF-1/PI3K/Akt Pathway Prevents Expression of Muscle Atrophy-Induced Ubiquitin Ligases by Inhibiting FOXO Transcription Factors
Molecular Cell|2004
1.9k cit.

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