Results 141 to 147 of about 954 (147)

Une nouvelle étiologie complexe d’insuffisance surrénale : le NGLY1 CDDG

Annales d'Endocrinologie, 2022
C. Lefèvre, A. Lavillaureix, M. Faoucher, I. Abeille, M.A. Maubert, I. Plotton, F. Roucher-Boulez   +6 more
openaire   +1 more source

Clarifying the mitochondrial phenotype of NGLY1 deficiency

Mitochondrion, 2015
Lea Latham, Christina Lam, Carlos Ferreira, Donna Krasnewich, William Gahl, Lynne Wolfe   +5 more
openaire   +1 more source

Natural SEL1L variants modify ERAD, proteasome function, and survival in a Drosophila model of NGLY1 deficiency

bioRxiv
Travis K Tu'ifua, Clement Y. Chow
semanticscholar   +1 more source

NGLY1-CDDG: report of two cases from India and brief review of literature

Journal Genetika
M. Dave, V. Udani, Anaita U. Hegde, T. Ashavaid, A. Dherai   +4 more
semanticscholar   +1 more source

Using Linear and Non-Linear Techniques to Characterize Gait Coordination Patterns of Two Individuals with NGLY1 Deficiency

Case Reports in Clinical Medicine
Charles S. Layne, Dacia Martínez Díaz, C. Malaya, Brock Futrell, Christian Alfaro, Hannah E. Gustafson, Bernhard Suter   +6 more
semanticscholar   +1 more source

. Nadir Bir Hücresel Trafik Bozukluğu: NGLY1 Eksikliği

2023
TEKE KISA, PELİN, ER, ESRA
openaire   +1 more source

Mouse Models Reveal the Physiological Functions of Cytosolic Peptide:N-Glycanase, NGLY1

Trends in glycoscience and glycotechnology
Haruhiko Fujihira
semanticscholar   +1 more source