Publications by authors named "Axel Panzer"

8Publications

SIGLEC1 (CD169) as a potential diagnostical screening marker for monogenic interferonopathies.

Pediatr Allergy Immunol 2020 Oct 25. Epub 2020 Oct 25.

Pediatric Pneumology, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1111/pai.13400DOI Listing
October 2020

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.

Eur J Paediatr Neurol 2020 Sep 4;28:81-88. Epub 2020 Aug 4.

Department of Paediatric Neurology, Charles University, Second Faculty of Medicine and Motol University Hospital, Member of the ERN EpiCARE Motol Epilepsy Center, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.07.010DOI Listing
September 2020

Severity Assessment in CDKL5 Deficiency Disorder.

Pediatr Neurol 2019 08 27;97:38-42. Epub 2019 Mar 27.

Children's Hospital Colorado and University of Colorado School of Medicine Aurora, Colorado; Department of Pediatrics, Aurora, Colorado; Department of Pharmacology, Aurora, Colorado; Department of Neurology, Aurora, Colorado; Department of Otolaryngology, Aurora, Colorado. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659999PMC
August 2019

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood.

Epilepsia 2010 Jul 18;51(7):1323-8. Epub 2010 Mar 18.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-Universität zu Kiel, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02535.xDOI Listing
July 2010