Publications by authors named "Lorena Heil"

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Sudden cardiac death, arrhythmogenic cardiomyopathy and intercalated disc pathology due to reduced filamin C protein levels: a matter of life and death.
Christian Holtzhausen, Lorena Heil, Karin Klingel, Henrik Fox, Jan Gummert

Hum Mol Genet· April 2025

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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Andreas Roos, Peter F M van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil

Brain· October 2023

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Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Dominik Sellung, Lorena Heil, Nassam Daya, Frank Jacobsen, Janine Mertens-Rill

Cells· May 2023

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Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Andrea Gangfuß, Andreas Hentschel, Lorena Heil, Maria Gonzalez, Anne Schönecker

Mol Genet Metab· July 2022

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Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Julia Schuld, Zacharias Orfanos, Frédéric Chevessier, Britta Eggers, Lorena Heil

Acta Neuropathol Commun· September 2020

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