Publications by authors named "Martin Preisel"

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A20 (TNFAIP3) Distinguishes Attack From Remission in Pediatric Patients With Monophasic MOGAD.
Christian Lechner, Shrishti Saxena, Hrishikesh A Lokhande, Markus Breu, Astrid Eisenkölbl, Martin Preisel

Neurol Neuroimmunol Neuroinflamm· September 2025

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Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.
Sigrid Disse, Georgia Ramantani, Hanna Küpper, Annette Bock, Georg-Christoph Korenke, Martin Preisel

Orphanet J Rare Dis· July 2025

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The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.
Sigrid Claudia Disse, Hanna Küpper, Annette Bock, Georg-Christoph Korenke, Georgia Ramantani, Martin Preisel

Eur J Paediatr Neurol· January 2025

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Cerebrospinal Fluid Cytology in Lyme Neuroborreliosis Revisited-Role of Neutrophilic Granulocytes: A Retrospective Single-Center Study.
Ferdinand Otto, Peter Wipfler, Wolfgang Hitzl, Martin Preisel, Andrea Harrer

J Clin Med· December 2024

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Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.
Alina Peternell, Christian Lechner, Markus Breu, Martin Preisel, Mareike Schimmel

Eur J Paediatr Neurol· May 2024

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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in .
Kim M Thalwitzer, Jan H Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Martin Preisel

Neurology· August 2023

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Case Report-An Inherited Loss-of-Function Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.
René G Feichtinger, Martin Preisel, Karin Brugger, Saskia B Wortmann, Johannes A Mayr

Genes (Basel)· June 2023

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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Martin Preisel

Sci Transl Med· May 2023

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A Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.
René G Feichtinger, Martin Preisel, Katja Steinbrücker, Karin Brugger, Alexandra Radda

Genes (Basel)· November 2022

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Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. . 2021, , 32.
Johannes Spenger, Esther M Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Martin Preisel

Int J Neonatal Screen· December 2021

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Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Johannes Spenger, Esther M Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Martin Preisel

Int J Neonatal Screen· June 2021

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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Simone Schröder, Yun Li, Gökhan Yigit, Janine Altmüller, Ingrid Bader, Martin Preisel

Genet Med· February 2021

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Positive troponin T without cardiac involvement in inclusion body myositis.
Josef D Schwarzmeier, Ahmad Hamwi, Martin Preisel, Christoph Resl, Matthias Preusser

Hum Pathol· August 2005

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