Leaderboards/Glycogen Storage Diseases and Myoclonus

Glycogen Storage Diseases and Myoclonus

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Ian R. Kelsall
MRC Protein Phosphorylation and Ubiquitylation Unit
2
Kajananan Sivagurunathan
Jaffna Teaching Hospital
3
Zhanyi Xia
Chinese Academy of Sciences
4
Traci E. LaMoia
Yale University
5
Luis Zafra‐Puerta
Hospital Universitario Fundación Jiménez Díaz
6
Emrah Gumusgoz
The University of Texas Southwestern Medical Center
7
Jiaxi Yu
Peking University
8
Carolina Courage
Folkhälsans Forskningscentrum
9
Ria Thomas
Structural Analytics (United States)
10
Silvia Nitschke
The University of Texas Southwestern Medical Center

Papers

1
Cytosolic calcium regulates hepatic mitochondrial oxidation, intrahepatic lipolysis, and gluconeogenesis via CAMKII activation
Cell Metabolism|2024
22 cit.
2
Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity
Gene Therapy|2025
6 cit.
3
Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease
The EMBO Journal|2025
4 cit.
4
Publication in Laboratory Investigation (2025) [W4408796869]
Laboratory Investigation|2025
0 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Jane Thurston
Burke Foundation
2
Jordi Díaz‐Manera
Newcastle upon Tyne Hospitals NHS Foundation Trust
3
Felix Nitschké
The University of Texas Southwestern Medical Center
4
Varote Shotelersuk
Texas Tech University
5
Wouter Vervecken
Vlaams Instituut voor Biotechnologie
6
on behalf of the Pompe Registry Sit
Unknown
7
Ramon C. Sun
University of Florida
8
Bin Deng
Northern Jiangsu People's Hospital
9
Hossein Ghahvehchian
Iran University of Medical Sciences
10
Lishu Li
Zhejiang A & F University

Papers

1
Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis
Nature Communications|2023
67 cit.
2
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Journal of Neurology Neurosurgery & Psychiatry|2022
41 cit.
3
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
Cell Death and Disease|2023
39 cit.
4
Spatial mapping of the brain metabolome lipidome and glycome
Nature Communications|2025
26 cit.
5
RhoA/ROCK2 signalling is enhanced by PDGF‐AA in fibro‐adipogenic progenitor cells: implications for Duchenne muscular dystrophy
Journal of Cachexia Sarcopenia and Muscle|2022
24 cit.
6
Water T2 could predict functional decline in patients with dysferlinopathy
Journal of Cachexia Sarcopenia and Muscle|2022
21 cit.
7
Glycogen drives tumour initiation and progression in lung adenocarcinoma
Nature Metabolism|2025
19 cit.
8
In situ microwave fixation provides an instantaneous snapshot of the brain metabolome
Cell Reports Methods|2023
17 cit.
9
Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy
Frontiers in Cell and Developmental Biology|2024
15 cit.
10
AI-driven framework to map the brain metabolome in three dimensions
Nature Metabolism|2025
14 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
Philip Cohen
MRC Protein Phosphorylation and Ubiquitylation Unit
2
Janice Y. Chou
Eunice Kennedy Shriver National Institute of Child Health and Human Development
3
Gerald I. Shulman
Howard Hughes Medical Institute
4
Peter J. Roach
Indiana University School of Medicine
5
Joan J. Guinovart
Institute for Research in Biomedicine
6
Berge A. Minassian
Southwestern Medical Center
7
Robert J. Desnick
Icahn School of Medicine at Mount Sinai
8
Priya S. Kishnani
Duke Medical Center
9
Joseph Jankovic
Baylor College of Medicine
10
Ans T. van der Ploeg
Erasmus MC

Papers

1
Specificity and mechanism of action of some commonly used protein kinase inhibitors
Biochemical Journal|2000
4.1k cit.
2
Specificity and mechanism of action of some commonly used protein kinase inhibitors
Biochemical Journal|2000
3.1k cit.
3
The selectivity of protein kinase inhibitors: a further update
Biochemical Journal|2007
2.5k cit.
4
Impaired Mitochondrial Activity in the Insulin-Resistant Offspring of Patients with Type 2 Diabetes
New England Journal of Medicine|2004
2.2k cit.
5
Mitochondrial Dysfunction in the Elderly: Possible Role in Insulin Resistance
Science|2003
2.1k cit.
6
Mitochondrial Dysfunction and Type 2 Diabetes
Science|2005
2.1k cit.
7
Mechanism by Which Fatty Acids Inhibit Insulin Activation of Insulin Receptor Substrate-1 (IRS-1)-associated Phosphatidylinositol 3-Kinase Activity in Muscle
Journal of Biological Chemistry|2002
1.5k cit.
8
Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
New England Journal of Medicine|2001
1.5k cit.
9
Mechanism of free fatty acid-induced insulin resistance in humans.
Journal of Clinical Investigation|1996
1.5k cit.
10
The specificities of protein kinase inhibitors: an update
Biochemical Journal|2003
1.4k cit.

Reagents for Glycogen Storage Diseases and Myoclonus

Citation-validated products used in this field

🔥 Trending

Gaining adoption fast

⭐ Top Rated

Best all-around

Cell Signaling Technology

Phospho-C/EBPbeta (Ser105) Antibody (Rat Specific)

#3081
View Evidence →
Cell Signaling Technology

Phospho-Stat3 (Ser727) (D4X3C) Rabbit Monoclonal Antibody (InTraSeq™ 3' Conjugate 3031)

#34774$434
View Evidence →
Cell Signaling TechnologyEvidence 63

Rap1A/Rap1B (26B4) Rabbit Monoclonal Antibody

#2399$157,348
View Evidence →

🌟 All-Time

Most validated

Cell Signaling TechnologyEvidence 65

USP10 (D7A5) Rabbit Monoclonal Antibody

Cited in 7 papers
#8501$149,348
View Evidence →
Cell Signaling Technology

GEF-H1 (55B6) Rabbit Monoclonal Antibody

Cited in 5 papers
#4076$158,348
View Evidence →
Cell Signaling TechnologyEvidence 60

Glycogen Synthase (GYS1/GYS2) (15B1) Rabbit Monoclonal Antibody

#3886$161,351
View Evidence →