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Annette E Bley

4PUBLICATIONS

72CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Youth justiceNeurology and neuromuscular diseases

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Publications (4)

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|Aug 02, 2025

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli

|Apr 16, 2025

De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|May 20, 2021

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Annette Bley, Jonas Denecke, Alfried Kohlschütter

|Jan 16, 2020

POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann

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Frequent Collaborators

2 joint publications

Nicole I Wolf

2 joint publications

Marjo S van der Knaap

1 joint publications

Inga Harting

1 joint publications

Murtadha Al-Saady

1 joint publications

Ingeborg Krägeloh-Mann

1 joint publications

Maja Hempel

1 joint publications

Tatjana Bierhals

1 joint publications

Stephanie Karch

1 joint publications

Konrad Platzer

1 joint publications

Geneviève Bernard

Frequent Collaborators

2 joint publications

Nicole I Wolf

2 joint publications

Marjo S van der Knaap

1 joint publications

Inga Harting

1 joint publications

Murtadha Al-Saady

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