Leaderboards/glycogen storage diseases and myoclonus

glycogen storage diseases and myoclonus

Last updated June 11, 2026

Rising Stars

New and hot

Rising Stars Researchers

1
Meredith I. Williams
Baylor College of Medicine
99
2
Matthew S. Gentry
Project HOPE
50

Rising Stars Papers

Insufficient data

Emerging Leaders

Gaining momentum

Emerging Leaders Researchers

Insufficient data

Emerging Leaders Papers

Insufficient data

All-Time Leaders

The canon

All-Time Leaders Researchers

1
Berge A. Minassian
Hospital for Sick Children
99
2
Mitchell S. Cairo
Columbia University Irving Medical Center
90
3
José M. Serratosa
Hospital Universitario La Paz
80
4
Elsebet Østergaard
Copenhagen University Hospital
70
5
Jay H. Lefkowitch
NewYork–Presbyterian Hospital
60
6
John Hart
Memorial Regional Hospital
50
7
Seymour Packman
University of California, San Francisco
40
8
P. James B. Dyck
Mayo Clinic in Arizona
30
9
J Roger
Universidad de La Laguna
20

All-Time Leaders Papers

1
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
Acta Neuropathologica Communications|2015
60 cit.
2
<i>Gys1</i> antisense therapy rescues neuropathological bases of murine Lafora disease
Brain|2021
51 cit.
3
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency
Brain|2022
25 cit.
4
Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom
Canine Genetics and Epidemiology|2018
17 cit.
5
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
Disease Models & Mechanisms|2022
16 cit.
6
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
European Journal of Human Genetics|2018
15 cit.
7
Gene therapy for Lafora disease in the Epm2a mouse model
Molecular Therapy|2024
14 cit.
8
Obinutuzumab (GA101) vs. rituximab significantly enhances cell death, antibody-dependent cytotoxicity and improves overall survival against CD20+ primary mediastinal B-cell lymphoma (PMBL) in a xenograft NOD-scid IL2Rgnull (NSG) mouse model: a potential targeted agent in the treatment of PMBL
Oncotarget|2020
10 cit.
9
<i>Gys1</i> antisense therapy rescues neuropathological bases of murine Lafora disease
bioRxiv (Cold Spring Harbor Laboratory)|2021
7 cit.

Reagents for glycogen storage diseases and myoclonus

Citation-validated products used in this field

🔥 Trending

Gaining adoption fast

Cell Signaling Technology

GCKR (D1W9P) Rabbit Monoclonal Antibody

#14328$161
View Evidence →

⭐ Recommended

Best all-around

Cell Signaling Technology

Rap1A/Rap1B (26B4) Rabbit Monoclonal Antibody

#2399$157
View Evidence →Cell Signaling Technology

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

#3081
View Evidence →Cell Signaling Technology

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

#3886$161
View Evidence →

🌟 All-Time

Most validated

Cell Signaling Technology

USP10 (D7A5) Rabbit Monoclonal Antibody

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

GEF-H1 (55B6) Rabbit Monoclonal Antibody

Cited in 5 papers
#4076$158
View Evidence →Cell Signaling Technology

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

#34774$434
View Evidence →