Sandra Pohl

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 10

Top Venues

Journal of clinical medicine

Human mutation

EMBO reports

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Sandra Pohl, Thorsten Schinke
O-GlcNAcylation in the osteoblast lineage-boosting the complexity of Wnt-stimulated bone formation. EMBO reports (2024)
Luise Sophie Ammer, Karolin Täuber, Anna Perez, Thorsten Dohrmann, Jonas Denecke, René Santer, Ulrike Blümlein, Ann-Kathrin Ozga, Sandra Pohl, Nicole Maria Muschol
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients. Journal of clinical medicine 12 (12) (2023)
Luise Sophie Ammer, Karolin Täuber, Anna Perez, Thorsten Dohrmann, Jonas Denecke, René Santer, Ulrike Blümlein, Ann-Kathrin Ozga, Sandra Pohl, Nicole Maria Muschol
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients. Journal of clinical medicine 12 (12) (2023)
Tess Holling, Gandham S Bhavani, Leonie von Elsner, Hitesh Shah, Neethukrishna Kausthubham, Shaila S Bhattacharyya, Anju Shukla, Geert R Mortier, Thorsten Schinke, Tatyana Danyukova, Sandra Pohl, Kerstin Kutsche, Katta M Girisha
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia. Human mutation 43 (5) (2022)
Giorgia Di Lorenzo, Lena M Westermann, Timur A Yorgan, Julian Stürznickel, Nataniel F Ludwig, Luise S Ammer, Anke Baranowsky, Shiva Ahmadi, Elham Pourbarkhordariesfandabadi, Sandra R Breyer, Tim N Board, Anne Foster, Jean Mercer, Karen Tylee, Renata Voltolini Velho, Michaela Schweizer, Thomas Renné, Thomas Braulke, Dévora N Randon, Fernanda Sperb-Ludwig, Louise Lapagesse de Camargo Pinto, Carolina Araujo Moreno, Denise P Cavalcanti, Michael Amling, Kerstin Kutsche, Dominic Winter, Nicole M Muschol, Ida V D Schwartz, Tim Rolvien, Tatyana Danyukova, Thorsten Schinke, Sandra Pohl
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. Genetics in medicine : official journal of the American College of Medical Genetics 23 (12) (2021)
Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J Simon Wiegert, Ida V D Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova
Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma. Disease models & mechanisms 13 (11) (2020)
Luise Sophie Ammer, Esmeralda Oussoren, Nicole Maria Muschol, Sandra Pohl, Maria Estela Rubio-Gozalbo, René Santer, Ralf Stuecker, Eik Vettorazzi, Sandra Rafaela Breyer
Hip Morphology in Mucolipidosis Type II. Journal of clinical medicine 9 (3) (2020)
Tatyana Danyukova, Nataniel F Ludwig, Renata V Velho, Frederike L Harms, Nilay Güneş, Henning Tidow, Ida V Schwartz, Beyhan Tüysüz, Sandra Pohl
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta. Human mutation 41 (1) (2019)
Ying Zeng, Xu He, Tatyana Danyukova, Sandra Pohl, Allison R Kermode
Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders. Journal of clinical medicine 8 (12) (2019)
Renata Voltolini Velho, Frederike L Harms, Tatyana Danyukova, Nataniel F Ludwig, Michael J Friez, Sara S Cathey, Mirella Filocamo, Barbara Tappino, Nilay Güneş, Beyhan Tüysüz, Karen L Tylee, Kathryn L Brammeier, Lesley Heptinstall, Esmee Oussoren, Ans T van der Ploeg, Christine Petersen, Sandra Alves, Gloria Durán Saavedra, Ida V Schwartz, Nicole Muschol, Kerstin Kutsche, Sandra Pohl
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Human mutation 40 (7) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Sandra Pohl