Michael Sacher
Concordia University
H-index: 34
North America-Canada
Top articles of Michael Sacher
Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease
bioRxiv
2024
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Brain
2024/1
Natural history of TANGO2 deficiency disorder: baseline assessment of 73 patients
2023/4/1
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells
Journal of Inherited Metabolic Disease
2023/3
Chiara Gamberi
H-Index: 12
Michael Sacher
H-Index: 21
Haem’s relevance genuine? Re-visiting the roles of TANGO2 homologues including HRG-9 and HRG-10 in C. elegans
bioRxiv
2023/11/30
Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset
Elife
2023/7/11
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice
PLoS Genetics
2022/3/17
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain
Neuropathology and Applied Neurobiology
2022/2
Michael Sacher
H-Index: 21
Biallelic TRAPPC10 variants are associated with a microcephalic TRAPPopathy disorder in humans and mice
2022
Shazia Khan
H-Index: 5
Michael Sacher
H-Index: 21
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
Journal of medical genetics
2021/9/1
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria
Journal of Inherited Metabolic Disease
2021/3
Khashayar Zardoui
H-Index: 2
Thomas Klopstock
H-Index: 52
Christopher Law
H-Index: 15
Michael Sacher
H-Index: 21
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
2021/1/2
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
2020/10/12
Michael Sacher
H-Index: 21
CONGENITAL MUSCULAR DYSTROPHIES: P. 198 TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain
Neuromuscular Disorders
2020/10/1
TRAPPing a neurological disorder: from yeast to humans
Autophagy
2020/5/3
Michael Sacher
H-Index: 21
John Christodoulou
H-Index: 28
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
Scientific Reports
2020
Katherine Johnson
H-Index: 13
Volker Straub
H-Index: 56
Andreas Hahn
H-Index: 28
Michael Sacher
H-Index: 21
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
Brain
2020/1/1
