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Author/Creator von Elsner, Leonie

1. A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia. Issue 5 (21st March 2022)

Authors:
Holling, Tess; Bhavani, Gandham S.; von Elsner, Leonie; Shah, Hitesh; Kausthubham, Neethukrishna; Bhattacharyya, Shaila S.; Shukla, Anju; Mortier, Geert R.; Schinke, Thorsten; Danyukova, Tatyana; Pohl, Sandra; Kutsche, Kerstin; Girisha, Katta M.
Journal:
Human mutation
Issue:
Volume 43:Issue 5(2022)
Page Start:
625
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Development of an online-SPE-LC-MS method for the investigation of the intestinal absorption of 2-amino-1-methyl-6-phenylimidazo[4, 5-b]pyridine (PHIP) and its bacterial metabolite PHIP-M1 in a Caco-2 Transwell system. (1st January 2015)

Authors:
Willenberg, Ina; von Elsner, Leonie; Steinberg, Pablo; Schebb, Nils Helge
Journal:
Food chemistry
Issue:
Volume 166(2015)
Page Start:
537
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Development of an online-SPE-LC-MS method for the investigation of the intestinal absorption of 2-amino-1-methyl-6-phenylimidazo[4, 5-b]pyridine (PHIP) and its bacterial metabolite PHIP-M1 in a Caco-2 Transwell system. (1st January 2015)

Authors:
Willenberg, Ina; von Elsner, Leonie; Steinberg, Pablo; Schebb, Nils Helge
Journal:
Food chemistry
Issue:
Volume 166(2015)
Page Start:
537
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. Issue 3 (21st December 2018)

Authors:
Girisha, Katta M.; von Elsner, Leonie; Neethukrishna, Kausthubham; Muranjan, Mamta; Shukla, Anju; Bhavani, Gandham SriLakshmi; Nishimura, Gen; Kutsche, Kerstin; Mortier, Geert
Journal:
Human mutation
Issue:
Volume 40:Issue 3(2019)
Page Start:
299
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗