Search

Author/Creator Sacher, Michael

11. 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. Issue 2 (21st September 2020)

Authors:
Milev, Miroslav P.; Saint‐Dic, Djenann; Zardoui, Khashayar; Klopstock, Thomas; Law, Christopher; Distelmaier, Felix; Sacher, Michael
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 2(2021)
Page Start:
426
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

14. TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain. (11th November 2021)

Authors:
Munot, Pinki; McCrea, Nadine; Torelli, Silvia; Manzur, Adnan; Sewry, Caroline; Chambers, Darren; Feng, Lucy; Ala, Pierpaolo; Zaharieva, Irina; Ragge, Nicola; Roper, Helen; Marton, Tamas; Cox, Phil; Milev, Miroslav P.; Liang, Wen‐Chen; Maruyama, Shinsuke; Nishino, Ichizo; Sacher, Michael; Phadke, ...
Journal:
Neuropathology & applied neurobiology
Issue:
Volume 48:Number 2(2022)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗