Sandra Pohl
11PUBLICATIONS
23CO-AUTHORS
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Publications (11)
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|Jun 28, 2023
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.Luise Sophie Ammer, Karolin Täuber, Anna Perez
|Mar 10, 2022
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.Tess Holling, Gandham S Bhavani, Leonie von Elsner
|Aug 03, 2021
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.Giorgia Di Lorenzo, Lena M Westermann, Timur A Yorgan
|Oct 07, 2020
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel
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Frequent Collaborators
2 joint publications
Kerstin Kutsche
2 joint publications
Thorsten Schinke
1 joint publications
Kim M Walter
1 joint publications
Leon Grahn
1 joint publications
Wenbo Zhao
1 joint publications
Kenneth Schöneck
1 joint publications
Julia Luther
1 joint publications
Mubashir Ahmad
1 joint publications
Melanie Haffner-Luntzer
1 joint publications
Anita Ignatius