Martin Preisel

Ignaz Harrer Str. 79
Salzburg, 5020, Austria

Last Updated: 09/26/2026

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Found 11 publications

A20 (TNFAIP3) Distinguishes Attack From Remission in Pediatric Patients With Monophasic MOGAD.

A20 (TNFAIP3) Distinguishes Attack From Remission in Pediatric Patients With Monophasic MOGAD.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: August 18, 2025

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.

Journal: Orphanet journal of rare diseases

Published: January 24, 2025

Cerebrospinal Fluid Cytology in Lyme Neuroborreliosis Revisited-Role of Neutrophilic Granulocytes: A Retrospective Single-Center Study.

Cerebrospinal Fluid Cytology in Lyme Neuroborreliosis Revisited-Role of Neutrophilic Granulocytes: A Retrospective Single-Center Study.

Journal: Journal of clinical medicine

Published: October 23, 2024

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 02, 2024

Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.

Blood parameters in pediatric myelin oligodendrocyte glycoprotein antibody-associated disorders.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 25, 2023

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Journal: Science translational medicine

Published: May 31, 2023

Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.

Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.

Journal: Genes

Published: April 12, 2023

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.

Journal: Genes

Published: October 03, 2022

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32.

Journal: International journal of neonatal screening

Published: December 14, 2021

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Journal: International journal of neonatal screening

Published: April 18, 2021

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

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

Published: June 24, 2020

Showing 1-11 of 11

Last Updated: 09/26/2026