Martin Fleger

Bregenz, Austria

Last Updated: 09/26/2026

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Found 8 publications

Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi-Goutières syndrome.

Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi-Goutières syndrome.

Journal: Frontiers in immunology

Published: January 06, 2026

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Journal: Journal of neuromuscular diseases

Published: September 12, 2025

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Journal: JAMA pediatrics

Published: April 08, 2024

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: January 28, 2021

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics

Published: December 01, 2020

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

Journal: JIMD reports

Published: November 30, 2016

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Journal: JIMD reports

Published: October 14, 2015

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies: first experiences.

Journal: Neuropediatrics

Published: March 03, 2015

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Last Updated: 09/26/2026