Ana Töpf

13PUBLICATIONS
120CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingCancer geneticsGene expression (incl. microarray and other genome-wide approaches)Soft condensed matter
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Publications (13)

|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

|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

|Feb 28, 2024
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.

Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio

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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