Katja Von Au

Landsberger Allee 49
Friedrichshain Bezirk, BE 10249, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 15 publications

Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.

Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.

Journal: Orphanet journal of rare diseases

Published: August 05, 2025

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis.

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: September 20, 2022

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.

Journal: Orphanet journal of rare diseases

Published: July 02, 2018

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Journal: Nature genetics

Published: July 30, 2015

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Journal: Neurology. Genetics

Published: July 11, 2015

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Journal: Clinical genetics

Published: February 17, 2015

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Journal: Neurology

Published: January 09, 2015

Transcriptional regulator PRDM12 is essential for human pain perception.

Transcriptional regulator PRDM12 is essential for human pain perception.

Journal: Nature genetics

Published: September 29, 2014

Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in Kearns-Sayre syndrome.

Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in Kearns-Sayre syndrome.

Journal: Cornea

Published: September 12, 2014

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Journal: American journal of human genetics

Published: July 31, 2014

A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.

A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.

Journal: Journal of child neurology

Published: December 17, 2013

190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands.

190 th ENMC international workshop: Spinal muscular atrophy with respiratory distress/distal spinal muscular atrophy type 1: 11-13 May 2012, Naarden, The Netherlands.

Journal: Neuromuscular disorders : NMD

Published: April 08, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026