Leaderboards/Amyotrophic Lateral Sclerosis Research

Amyotrophic Lateral Sclerosis Research

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
X. Rosa
Lucile Packard Children's Hospital
2
Madelyn Klemmensen
University of Iowa
3
Michael W. Baughn
University of California San Diego
4
Sahba Seddighi
University of Oxford
5
Miriam Linsenmeier
California University of Pennsylvania
6
Sien Hilde Van Daele
Valve (United States)
7
Manuel Schweighauser
MRC Laboratory of Molecular Biology
8
Eveljn Scarian
Foundation Center
9
Sarnai Amartumur
Sungkyunkwan University
10
S. Sebastian Pineda
Broad Institute

Papers

1
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
Science Translational Medicine|2024
158 cit.
2
Publication in Nature Communications (2024) [92 citations, W4392683747]
Nature Communications|2024
92 cit.
3
Publication in Trends in Molecular Medicine (2024) [50 citations, W4390805874]
Trends in Molecular Medicine|2024
50 cit.
4
Distinct tau filament folds in human MAPT mutants P301L and P301T
Nature Structural & Molecular Biology|2025
14 cit.
5
Fast-track to a Huntington disease diagnosis – I saw the “boxcar” sign
Clinical Imaging|2025
2 cit.
6
Publication in Biophysical Journal (2024) [W4391641815]
Biophysical Journal|2024
0 cit.
7
Publication in Biophysical Journal (2025) [W4407493855]
Biophysical Journal|2025
0 cit.
8
P033: Mitochondrial copy number in undiagnosed and rare monogenic diseases
Genetics in Medicine Open|2025
0 cit.
9
P082: Proteomics of diffuse intrinsic pontine glioma (DIPG) and induced pluripotent stem cell (iPSC) derived cerebral organoid co-culture: Mechanistic insights on tumor microinvasion
Genetics in Medicine Open|2026
0 cit.
10
P041: A personalized medicine paradigm using clinical, biochemical, multiomics and cell based functional assays for delineating undiagnosed primary mitochondrial diseases
Genetics in Medicine Open|2026
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
Stephanie Fradette
Biogen (United States)
4
Pietro Fratta
Queen Mary University of London
5
Sandrine Da Cruz
VIB-KU Leuven Center for Brain & Disease Research
6
Magdalini Polymenidou
University of Zurich
7
Justin K. Ichida
University of Southern California
8
Sami J. Barmada
University of Michigan
9
Benjamin Falcon
MRC Laboratory of Molecular Biology
10
Yong‐Jie Zhang
Jacksonville College

Papers

1
Trial of Antisense Oligonucleotide Tofersen for <i>SOD1</i> ALS
New England Journal of Medicine|2022
850 cit.
2
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Nature|2022
514 cit.
3
Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study
Neurotherapeutics|2022
166 cit.
4
TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP
Nature|2023
162 cit.
5
RNA methylation influences TDP43 binding and disease pathogenesis in models of amyotrophic lateral sclerosis and frontotemporal dementia
Molecular Cell|2023
107 cit.
6
PIKFYVE inhibition mitigates disease in models of diverse forms of ALS
Cell|2023
98 cit.
7
Loss of TDP‐43 oligomerization or RNA binding elicits distinct aggregation patterns
The EMBO Journal|2023
91 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
Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study
The Lancet Neurology|2024
70 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Don W. Cleveland
University of California San Diego
2
Virginia M.‐Y. Lee
Institute for Neurodegenerative Disorders
3
Rosa Rademakers
Indiana University – Purdue University Indianapolis
4
Stanley H. Appel
Houston Methodist
5
Leonard Petrucelli
Jacksonville College
6
Bryan J. Traynor
National Institutes of Health
7
Christopher E. Shaw
King's College London
8
Ian R. Mackenzie
University of British Columbia
9
Robert H. Brown
University of Massachusetts Chan Medical School
10
Orla Hardiman
Trinity College

Papers

1
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Science|2006
6.6k 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
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Science|2008
2.6k cit.
6
Pathological α-Synuclein Transmission Initiates Parkinson-like Neurodegeneration in Nontransgenic Mice
Science|2012
2.6k cit.
7
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Science|2009
2.6k cit.
8
Mutations in the <i>FUS/TLS</i> Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Science|2009
2.6k cit.
9
Neurodegenerative Tauopathies
Annual Review of Neuroscience|2001
2.4k cit.
10
Synapse Loss and Microglial Activation Precede Tangles in a P301S Tauopathy Mouse Model
Neuron|2007
2.3k cit.

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