Product
Help
Pricing
About
Jobs
Log in
Get started
Institution
Add to collection
Grace Science Foundation
Homepage:
gracescience.org
ROR:
007hzb147
OpenAlex ID:
I4405270196
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
2022
·
Caroline R. Stanclift
, Selina S. Dwight
, et al.
·
Orphanet Journal of Rare Diseases
·
28
PDF
NGLY1 mutations cause protein aggregation in human neurons
2023
·
Andreea Manole
, Thomas Wong
, et al.
·
Cell Reports
·
21
NGLY1 deficiency: a prospective natural history study
2023
·
Sandra Tong
, Pamela Ventola
, et al.
·
Human Molecular Genetics
·
17
PDF
Patient-derived gene and protein expression signatures of NGLY1 deficiency
2021
·
Benedikt Rauscher
, William F Mueller
, et al.
·
The Journal of Biochemistry
·
13
PDF
The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency
2025
·
Kun Yang
, Gustavo Torres-Ramirez
, et al.
·
The Journal of Experimental Medicine
·
10
Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats
2026
·
Lei Zhu
, Selina Dwight
, et al.
·
Orphanet Journal of Rare Diseases
·
1
Natural history of NGLY1 deficiency: motor function & clinical features
2026
·
Grace Morrison
, Selina Dwight
, et al.
·
Human Molecular Genetics
·
1
MRI Characterization of Structural Brain Abnormalities in NGLY1 Deficiency
2026
·
Emily L. Dennis
, Lei Zhu
, et al.
·
International Journal of Developmental Neuroscience
NGLY1 deficiency natural history study
2024
·
Bernhard Suter
, Julie Thompson
, et al.
·
Molecular Genetics and Metabolism
Show more works
View as search
Works count:
9
Citation count:
355
Year
Topic
Type
