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Ana Töpf

13PUBLICATIONS

120CO-AUTHORS

Neurology and neuromuscular diseasesGene mappingCancer geneticsEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)

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Publications (13)

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|Dec 24, 2025

A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.

John Vissing, Ana Töpf, Volker Straub

|Jun 04, 2025

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.

Barbara Tedesco, Stojan Peric, Goknur Selen Kocak

|Dec 10, 2024

Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Berta Estévez-Arias, Leslie Matalonga, Delia Yubero

|Oct 08, 2024

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.

Kristl G Claeys, Marco Savarese, Per Harald Jonson

|Sep 27, 2024

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Berta Estévez-Arias, Leslie Matalonga, Delia Yubero

|Mar 01, 2024

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Ana Töpf, Dan Cox, Irina T Zaharieva

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Frequent Collaborators

6 joint publications

Volker Straub

6 joint publications

Hanns Lochmüller

5 joint publications

Steven Laurie

4 joint publications

German Demidov

3 joint publications

Erik-Jan Kamsteeg

2 joint publications

Luke O'Gorman

2 joint publications

Wouter Steyaert

2 joint publications

Richarda M de Voer

2 joint publications

Sergi Beltran

2 joint publications

Peter A C 't Hoen

Frequent Collaborators

6 joint publications

Volker Straub

6 joint publications

Hanns Lochmüller

5 joint publications

Steven Laurie

4 joint publications

German Demidov

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